E. P. Williams, M. Mesidor, K. Winters, P. W. Dubbert, and B. , Overweight and obesity: prevalence,consequences, and causes of a growing public healthproblem, Curr Obes Rep, vol.4, pp.363-370, 2015.

K. G. Alberti, Harmonizing the metabolicsyndrome: a joint interim statement of theInternational Diabetes Federation Task Force onEpidemiology and Prevention; National Heart, Lung,and Blood

, World Heart Federation; International AtherosclerosisSociety; and International Association for the Studyof Obesity Circulation, American Heart Association, vol.120, pp.1640-1645, 2009.

D. Sellayah, F. R. Cagampang, and R. D. Cox, On theevolutionary origins of obesity: a new hypothesis, Endocrinology, vol.155, 2014.

J. A. Martinez, Body-weight regulation: causes ofobesity, Proc Nutr Soc, vol.59, pp.337-345, 2000.

E. J. Mcallister, Ten putative contributors tothe obesity epidemic, Crit. Rev. Food Sci. Nutr, vol.49, pp.868-913, 2009.

M. O. Fosbol and B. Zerahn, Contemporary methods ofbody composition measurement, Clin. Physiol FunctImaging, vol.35, pp.81-97, 2015.

A. Javed, M. Jumean, M. H. Murad, D. Okorodudu, S. Kumar et al., Diagnostic performance of body mass index to identify obesity as defined by body adiposity in children and adolescents: a systematic review and meta-analysis, Pediatr Obes. juin, vol.10, issue.3, pp.234-278, 2015.

P. González-muniesa, M. Mártinez-gonzález, F. B. Hu, J. Després, Y. Matsuzawa et al., Nature Reviews Disease Primers. 15 juin, vol.3, p.17034, 2017.

A. Urdampilleta, P. González-muniesa, M. P. Portillo, and J. A. Martínez, Usefulness of combining intermittent hypoxia and physical exercise in the treatment of obesity, J Physiol Biochem. juin, vol.68, issue.2, pp.289-304, 2012.

R. Dobbs, How the world could better fightobesity. McKinsey: Global Institute, 2014.

V. S. Malik, W. C. Willett, and F. B. Hu, Global obesity:trends, risk factors and policy implications, Nat RevEndocrinol, vol.9, pp.13-27, 2013.

, a pooled analysis of 1698 population-based measurement studies with 19·2 million participants. The Lancet. 2 avr, Trends in adult body-mass index in 200 countries from, vol.387, pp.1377-96, 1975.

M. Ng, T. Fleming, M. Robinson, B. Thomson, N. Graetz et al., Global, regional, and national prevalence of overweight and obesity in children and adults during 1980-2013: a systematic analysis for the Global Burden of Disease Study, Lancet. 30 août, vol.384, issue.9945, pp.766-81, 2013.

J. Nazare, J. D. Smith, A. Borel, S. M. Haffner, B. Balkau et al., Ethnic influences on the relations between abdominal subcutaneous and visceral adiposity, liver fat, and cardiometabolic risk profile: the International Study of Prediction of Intra-Abdominal Adiposity and Its Relationship With Cardiometabolic Risk/Intra-Abdominal Adiposity, Am J Clin Nutr, vol.96, issue.4, pp.714-740, 2012.

E. A. Finkelstein, O. A. Khavjou, H. Thompson, J. G. Trogdon, L. Pan et al., Obesity and severe obesity forecasts through 2030, Am J Prev Med. juin, vol.42, issue.6, pp.563-70, 2012.

S. N. Bhupathiraju and F. B. Hu, Epidemiology ofobesity and diabetes and their cardiovascularcomplications, Circ Res, vol.118, pp.1723-1735, 2016.

N. Ahluwalia, P. Dalmasso, M. Rasmussen, L. Lipsky, C. Currie et al., Trends in overweight prevalence among 11-, 13-and 15-year-olds in 25 countries in Europe, Canada and USA from, 2002.

, Eur J Public Health. avr, vol.25, issue.2, pp.28-32, 2015.

K. D. Hall, G. Sacks, D. Chandramohan, C. C. Chow, Y. C. Wang et al., Quantification of the effect of energy imbalance on bodyweight, Lancet. 27 août, vol.378, issue.9793, pp.826-863, 2011.

J. Vague, The degree of masculine differentiation of obesities: a factor determining predisposition to diabetes, atherosclerosis, gout, and uric calculous disease, Am J Clin Nutr. févr, vol.4, issue.1, pp.20-34, 1956.

S. Saeed, A. Bonnefond, J. Manzoor, F. Shabbir, A. H. Philippe et al., Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population, Obesity (Silver Spring), vol.23, issue.8, pp.1687-95, 2015.

J. S. Flier, Obesity wars: molecular progress confronts an expanding epidemic, Cell. 23 janv, vol.116, issue.2, pp.337-50, 2004.

M. Bes-rastrollo, A prospective study of eatingaway-from-home meals and weight gain in aMediterranean population: the SUN (SeguimientoUniversidad de Navarra) cohort, Public Health, vol.13, pp.1356-1363, 2010.

S. Vandevijvere, C. C. Chow, K. D. Hall, and U. E. , Increased food energy supply as amajor driver of the obesity epidemic: a global analysis, Bull. World Health Organ, vol.93, pp.446-456, 2015.

C. Sayon-orea, Association between sleepinghours and siesta and the risk of obesity: the SUNMediterranean cohort, Obes. Facts, vol.6, pp.337-347

D. S. Ludwig, Lifespan weighed down by diet, vol.315, pp.2269-2270, 2016.

C. Razquin, A 3 years follow-up of aMediterranean diet rich in virgin olive oil isassociated with high plasma antioxidant capacityand reduced body weight gain, Eur J Clin Nutr, vol.63, pp.1387-1393, 2009.

R. Estruch, R. E. Salas-salvadó, J. Covas, M. , C. D. Arós et al., Retraction and Republication: Primary Prevention of Cardiovascular Disease with a Mediterranean Diet, N Engl J Med, vol.368, p.1279, 2013.

, N Engl J Med, vol.21, issue.25, pp.2441-2443, 2018.

J. D. Smith, Changes in intake of protein foods,carbohydrate amount and quality, and longtermweight change: results from 3 prospective cohorts.Am, J Clin Nutr, vol.101, pp.1216-1224, 2015.

D. K. Tobias, Effect of low-fat diet interventionsversus other diet interventions on long-term weightchange in adults: a systematic review and metaanalysis, Lancet Diabetes Endocrinol. Lancet Diabetes Endocrinol, vol.3

B. Hanley, J. Dijane, M. Fewtrell, A. Grynberg, S. Hummel et al., Metabolic imprinting, programming and epigenetics -a review of present priorities and future opportunities, Br J Nutr. juill, vol.104, issue.1, pp.1-25, 2010.

X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen et al., Developmental pathways to adiposity begin before birth and are influenced by genotype, prenatal environment and epigenome, BMC Med, vol.07, issue.1, p.50, 2017.

Z. B. Yu, S. P. Han, G. Z. Zhu, C. Zhu, X. J. Wang et al., Birth weight and subsequent risk of obesity: a systematic review and meta-analysis, Obes Rev. juill, vol.12, issue.7, pp.525-567, 2011.

C. Druet, N. Stettler, S. Sharp, R. K. Simmons, C. Cooper et al., Prediction of childhood obesity by infancy weight gain: an individual-level meta-analysis, Paediatr Perinat Epidemiol. janv, vol.26, issue.1, pp.19-26, 2012.

S. Arenz, R. Rückerl, B. Koletzko, and R. Von-kries, Breast-feeding and childhood obesity--a systematic review, Int J Obes Relat Metab Disord, vol.28, issue.10, pp.1247-56, 2004.

M. Weber, V. Grote, R. Closa-monasterolo, J. Escribano, J. Langhendries et al., Lower protein content in infant formula reduces BMI and obesity risk at school age: follow-up of a randomized trial, Am J Clin Nutr. mai, vol.99, issue.5, pp.1041-51, 2014.

C. Ohlsson, M. Lorentzon, E. Norjavaara, and J. M. Kindblom, Age at adiposity rebound is associated with fat mass in young adult males-the GOOD study, PLoS ONE, vol.7, issue.11, p.49404, 2012.

P. Prentice and R. M. Viner, Pubertal timing and adult obesity and cardiometabolic risk in women and men: a systematic review and meta-analysis, Int J Obes (Lond). août, vol.37, issue.8, pp.1036-1079, 2013.

M. F. Rolland-cachera, M. Deheeger, M. B. Maillot, and F. , Early adiposity rebound: causes andconsequences for obesity in children and adults, Int. J Obes (Lond), vol.30, pp.11-17, 2006.

Y. C. Wang, K. Mcpherson, T. Marsh, S. L. Gortmaker, and M. Brown, Health and economicburden of the projected obesity trends in the USAand the UK, Lancet, pp.815-825, 2011.

K. Jauch-chara and K. M. Oltmanns, Obesity--a neuropsychological disease? Systematic review and neuropsychological model, Prog Neurobiol. mars, vol.114, pp.84-101, 2014.

D. Angelantonio, E. Bhupathiraju, S. Wormser, D. Gao, and P. , Global BMI Mortality Collaboration null

S. Kaptoge, Body-mass index and all-cause mortality: individual-participant-data meta-analysis of 239 prospective studies in four continents, Lancet, vol.20, pp.776-86, 2016.

K. M. Flegal, B. K. Kit, H. Orpana, and B. I. Graubard, Association of all-cause mortality with overweight and obesity using standard body mass index categories: a systematic review and meta-analysis, JAMA, vol.2, issue.2013

J. Després and I. Lemieux, Abdominal obesity and metabolic syndrome, Nature. 14 déc, vol.444, issue.7121, pp.881-888, 2006.

H. Sacks and M. E. Symonds, Anatomical locations of human brown adipose tissue: functional relevance and implications in obesity and type 2 diabetes, Diabetes. juin, vol.62, issue.6, pp.1783-90, 2013.

Y. Matsuzawa, The metabolic syndrome andadipocytokines, FEBS Lett, vol.580, pp.2917-2921, 2006.

S. Gesta, Y. Tseng, and C. R. Kahn, Developmental origin of fat: tracking obesity to its source, Cell, vol.131, issue.2, pp.242-56, 2007.

G. I. Shulman, Ectopic fat in insulin resistance, dyslipidemia, and cardiometabolic disease, N Engl J Med. 18 sept, vol.371, issue.12, pp.1131-1172, 2014.

F. Karpe and K. E. Pinnick, Biology of upper-body and lower-body adipose tissue--link to whole-body phenotypes, Nat Rev Endocrinol. févr, vol.11, issue.2, pp.90-100, 2015.

E. D. Rosen and B. M. Spiegelman, What we talk about when we talk about fat, Cell. 16 janv, vol.156, issue.1-2, pp.20-44, 2014.

R. Ross, T. Berentzen, A. J. Bradshaw, I. Janssen, H. S. Kahn et al., Does the relationship between waist circumference, morbidity and mortality depend on measurement protocol for waist circumference?, Obes Rev. juill, vol.9, issue.4, pp.312-337, 2008.

I. J. Neeland, A. T. Turer, C. R. Ayers, J. D. Berry, A. Rohatgi et al., Body fat distribution and incident cardiovascular disease in obese adults, J Am Coll Cardiol, vol.65, pp.2150-2151, 2015.

N. Patni and A. Garg, Congenital generalized lipodystrophies--new insights into metabolic dysfunction, Nat Rev Endocrinol. sept, vol.11, issue.9, pp.522-556, 2015.

M. Camilleri, Peripheral mechanisms in appetite regulation, Gastroenterology. mai, vol.148, issue.6, pp.1219-1252, 2015.

V. K. Ridaura, J. J. Faith, F. E. Rey, J. Cheng, A. E. Duncan et al., Gut microbiota from twins discordant for obesity modulate metabolism in mice, Science. 6 sept, vol.341, issue.6150, p.1241214, 2013.

C. E. Elks, M. Den-hoed, J. H. Zhao, S. J. Sharp, N. J. Wareham et al., Variability in the heritability of body mass index: a systematic review and meta-regression, Front Endocrinol (Lausanne), vol.3, p.29, 2012.

M. G. Myers, R. Leibel, L. J. Groot, G. Chrousos, K. Dungan et al., Lessons From Rodent Models of Obesity

, South Dartmouth (MA): MDText.com, Inc, 2000.

D. Sur, Farooqi IS. The hunger genes: pathways to obesity, Cell. 26 mars, vol.161, issue.1, pp.119-151, 2015.

T. M. Frayling, N. J. Timpson, M. N. Weedon, E. Zeggini, R. M. Freathy et al., A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity, Science, vol.11, 2007.

T. Gerken, C. A. Girard, Y. Tung, C. J. Webby, V. Saudek et al., The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase, Science, vol.318, issue.5855, pp.1469-72, 2007.

J. Fischer, L. Koch, C. Emmerling, J. Vierkotten, T. Peters et al., Inactivation of the Fto gene protects from obesity, Nature. 16 avr, vol.458, issue.7240, pp.894-902, 2009.

C. Church, L. Moir, F. Mcmurray, C. Girard, G. T. Banks et al., Overexpression of Fto leads to increased food intake and results in obesity, Nat Genet. déc, vol.42, issue.12, pp.1086-92, 2010.

M. Claussnitzer, C. Hui, and M. Kellis, FTO Obesity Variant and Adipocyte Browning in Humans, N Engl J Med, vol.14, issue.2, pp.192-195, 2016.

A. E. Locke, B. Kahali, S. I. Berndt, A. E. Justice, T. H. Pers et al., Genetic studies of body mass index yield new insights for obesity biology, Nature. 12 févr, vol.518, issue.7538, pp.197-206, 2015.

D. Shungin, T. W. Winkler, D. C. Croteau-chonka, T. Ferreira, A. E. Locke et al., New genetic loci link adipose and insulin biology to body fat distribution, Nature. 12 févr, vol.518, issue.7538, pp.187-96, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01132692

G. P. Ravelli, Z. A. Stein, and M. W. Susser, Obesity in young men after famine exposure in utero and early infancy, N Engl J Med. 12 août, vol.295, issue.7, pp.349-53, 1976.

K. J. Dick, C. P. Nelson, L. Tsaprouni, J. K. Sandling, D. Aïssi et al., DNA methylation and bodymass index: a genome-wide analysis, Lancet. 7 juin, vol.383, issue.9933, pp.1990-1998, 2014.

X. Jiang, M. Xue, Z. Fu, C. Ji, X. Guo et al., Insight into the Effects of Adipose Tissue Inflammation Factors on miR-378 Expression and the Underlying Mechanism, Cellular Physiology and Biochemistry, vol.33, issue.6, pp.1778-88, 2014.

S. Wahl, A. Drong, B. Lehne, M. Loh, W. R. Scott et al., Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity, Nature. 05, vol.541, issue.7635, pp.81-87, 2017.

M. M. Mendelson, R. E. Marioni, R. Joehanes, C. Liu, Å. K. Hedman et al., Association of Body Mass Index with DNA Methylation and Gene Expression in Blood Cells and Relations to Cardiometabolic Disease: A Mendelian Randomization Approach, PLoS Med. janv, vol.14, issue.1, p.1002215, 2017.

M. Pigeyre and M. Romon,

, Ann Endocrinol (Paris). déc, vol.68, issue.6, pp.430-437, 2007.

D. L. Coleman and K. P. Hummel, Effects of parabiosis of normal with genetically diabetic mice, Am J Physiol. nov, vol.217, issue.5, pp.1298-304, 1969.

R. V. Considine, M. K. Sinha, M. L. Heiman, A. Kriauciunas, T. W. Stephens et al., Serum immunoreactive-leptin concentrations in normal-weight and obese humans, N Engl J Med. 1 févr, vol.334, issue.5, pp.292-297, 1996.

R. S. Ahima, D. Prabakaran, C. Mantzoros, D. Qu, B. Lowell et al., Role of leptin in the neuroendocrine response to fasting, Nature. 18 juill, vol.382, issue.6588, pp.250-252, 1996.

J. K. Elmquist, C. Bjørbaek, R. S. Ahima, J. S. Flier, and C. B. Saper, Distributions of leptin receptor mRNA isoforms in the rat brain, J Comp Neurol. 15 juin, vol.395, issue.4, pp.535-582, 1998.

R. D. Cone, Anatomy and regulation of the central melanocortin system, Nat Neurosci. mai, vol.8, issue.5, pp.571-579, 2005.

D. Huszar, C. A. Lynch, V. Fairchild-huntress, J. H. Dunmore, Q. Fang et al., Targeted disruption of the melanocortin-4 receptor results in obesity in mice, Cell. 10 janv, vol.88, issue.1, pp.131-172, 1997.

C. T. Montague, I. S. Farooqi, J. P. Whitehead, M. A. Soos, H. Rau et al., Congenital leptin deficiency is associated with severe early-onset obesity in humans, Nature. 26 juin, vol.387, issue.6636, pp.903-911, 1997.

I. S. Farooqi, T. Wangensteen, S. Collins, W. Kimber, G. Matarese et al., Clinical and Molecular Genetic Spectrum of Congenital Deficiency of the Leptin Receptor, N Engl J Med. 18 janv, vol.356, issue.3, pp.237-284, 2007.

K. Clément, H. Biebermann, I. S. Farooqi, L. Van-der-ploeg, B. Wolters et al., MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency, Nat Med. mai, vol.24, issue.5, pp.551-556, 2018.

I. S. Farooqi, G. Matarese, G. M. Lord, J. M. Keogh, E. Lawrence et al., Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency, J Clin Invest, vol.110, issue.8, pp.1093-103, 2002.

I. S. Farooqi, E. Bullmore, J. Keogh, J. Gillard, S. O'rahilly et al., Leptin regulates striatal regions and human eating behavior, Science. 7 sept, vol.317, issue.5843, p.1355, 2007.

M. Rosenbaum, M. Sy, K. Pavlovich, R. L. Leibel, and J. Hirsch, Leptin reverses weight loss-induced changes in regional neural activity responses to visual food stimuli, J Clin Invest. 1 juill, vol.118, issue.7, pp.2583-91, 2008.

J. D. Hommel, R. Trinko, R. M. Sears, D. Georgescu, Z. Liu et al., Leptin receptor signaling in midbrain dopamine neurons regulates feeding, Neuron. 21 sept, vol.51, issue.6, pp.801-811, 2006.

M. Rosenbaum, R. Goldsmith, D. Bloomfield, A. Magnano, L. Weimer et al., Low-dose leptin reverses skeletal muscle, autonomic, and neuroendocrine adaptations to maintenance of reduced weight, J Clin Invest. déc, vol.115, issue.12, pp.3579-86, 2005.

Y. Minokoshi, Y. Kim, O. D. Peroni, L. Fryer, C. Müller et al., Leptin stimulates fatty-acid oxidation by activating AMP-activated protein kinase, Nature. 17 janv, vol.415, issue.6869, pp.339-382, 2002.

J. E. Galgani, F. L. Greenway, S. Caglayan, M. Wong, J. Licinio et al., Leptin replacement prevents weight loss-induced metabolic adaptation in congenital leptin-deficient patients, J Clin Endocrinol Metab. févr, vol.95, issue.2, pp.851-856, 2010.

M. Ozata, I. C. Ozdemir, and J. Licinio, Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin, and spontaneous correction of leptin-mediated defects, J Clin Endocrinol Metab, vol.84, issue.10, pp.3686-95, 1999.

W. T. Gibson, I. S. Farooqi, M. Moreau, A. M. Depaoli, E. Lawrence et al., Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy, J Clin Endocrinol Metab, vol.89, issue.10, pp.4821-4827, 2004.

M. Rosenbaum, E. M. Murphy, S. B. Heymsfield, D. E. Matthews, and R. L. Leibel, Low dose leptin administration reverses effects of sustained weight-reduction on energy expenditure and circulating concentrations of thyroid hormones, J Clin Endocrinol Metab. mai, vol.87, issue.5, pp.2391-2395, 2002.

H. Huvenne, L. Beyec, J. Pépin, D. Alili, R. Kherchiche et al., Seven novel deleterious LEPR mutations found in early-onset obesity: a ?Exon6-8 shared by subjects from Reunion Island, France, suggests a founder effect, J Clin Endocrinol Metab. mai, vol.100, issue.5, pp.757-766, 2015.

A. Strobel, T. Issad, L. Camoin, M. Ozata, and A. D. Strosberg, A leptin missense mutation associated with hypogonadism and morbid obesity, Nat Genet. mars, vol.18, issue.3, pp.213-218, 1998.

Y. Chan, S. Broder-fingert, and S. B. Seminara, Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men, Peptides. janv, vol.30, issue.1, pp.42-50, 2009.

J. Tschöp, R. Nogueiras, S. Haas-lockie, K. R. Kasten, T. R. Castañeda et al., CNS leptin action modulates immune response and survival in sepsis, J Neurosci. 28 avr, vol.30, issue.17, pp.6036-6083, 2010.

S. Saeed, A. Bonnefond, F. Tamanini, M. U. Mirza, J. Manzoor et al., Loss-of-function mutations in ADCY3 cause monogenic severe obesity, Nat Genet. févr, vol.50, issue.2, pp.175-184, 2018.

D. Albuquerque, E. Stice, R. Rodríguez-lópez, L. Manco, and C. Nóbrega, Current review of genetics of human obesity: from molecular mechanisms to an evolutionary perspective, Molecular Genetics and Genomics. août, vol.290, issue.4, pp.1191-221, 2015.

H. Krude, H. Biebermann, W. Luck, R. Horn, G. Brabant et al., Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans, Nat Genet. juin, vol.19, issue.2, pp.155-162, 1998.

Y. S. Lee, B. G. Challis, D. A. Thompson, G. Yeo, J. M. Keogh et al., A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance, Cell Metab. févr, vol.3, issue.2, pp.135-175, 2006.
URL : https://hal.archives-ouvertes.fr/hal-00174463

J. Creemers, Y. S. Lee, R. L. Oliver, M. Bahceci, A. Tuzcu et al., Mutations in the aminoterminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway, J Clin Endocrinol Metab, vol.93, issue.11, pp.4494-4503, 2008.

P. Kühnen, K. Clément, S. Wiegand, O. Blankenstein, K. Gottesdiener et al., Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist, N Engl J Med. 21 juill, vol.375, issue.3, pp.240-246, 2016.

R. S. Jackson, J. W. Creemers, S. Ohagi, M. L. Raffin-sanson, L. Sanders et al., Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene, Nat Genet. juill, 1997.

R. S. Jackson, J. Creemers, I. S. Farooqi, M. Raffin-sanson, A. Varro et al., Smallintestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency, J Clin Invest, vol.112, issue.10, pp.1550-60, 2003.

C. Vaisse, K. Clement, E. Durand, S. Hercberg, B. Guy-grand et al., Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity, J Clin Invest. juill, vol.106, issue.2, pp.253-62, 2000.

B. Dubern, S. Bisbis, H. Talbaoui, L. Beyec, J. Tounian et al., Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity, J Pediatr. juin, vol.150, issue.6, p.1, 2007.

F. Santini, M. Maffei, C. Pelosini, G. Salvetti, G. Scartabelli et al., Melanocortin-4 receptor mutations in obesity, Adv Clin Chem, vol.48, pp.95-109, 2009.

I. S. Farooqi, J. M. Keogh, G. Yeo, E. J. Lank, T. Cheetham et al., Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene, N Engl J Med. 20 mars, vol.348, issue.12, pp.1085-95, 2003.

H. Biebermann, T. R. Castañeda, F. Van-landeghem, V. Deimling, A. Escher et al., A role for beta-melanocyte-stimulating hormone in human body-weight regulation, Cell Metab. févr, vol.3, issue.2, pp.141-147, 2006.

R. Nogueiras, P. Wiedmer, D. Perez-tilve, C. Veyrat-durebex, J. M. Keogh et al., The central melanocortin system directly controls peripheral lipid metabolism, J Clin Invest, vol.117, issue.11, pp.3475-88, 2007.

C. E. Martinelli, J. M. Keogh, J. R. Greenfield, E. Henning, A. A. Van-der-klaauw et al., Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion, J Clin Endocrinol Metab. janv, vol.96, issue.1, pp.181-188, 2011.

N. M. Martin, P. A. Houston, M. Patterson, A. Sajedi, D. F. Carmignac et al., Abnormalities of the somatotrophic axis in the obese agouti mouse, Int J Obes, vol.30, issue.3, pp.430-438, 2006.

B. Xu, E. H. Goulding, K. Zang, D. Cepoi, R. D. Cone et al., Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor, Nat Neurosci. juill, vol.6, issue.7, pp.736-778, 2003.

A. Bonnefond, A. Raimondo, F. Stutzmann, M. Ghoussaini, S. Ramachandrappa et al., Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features, J Clin Invest. juill, vol.123, issue.7, pp.3037-3078, 2013.

S. Ramachandrappa, A. Raimondo, A. Cali, J. M. Keogh, E. Henning et al., Rare variants in single-minded 1 (SIM1) are associated with severe obesity, J Clin Invest. 1 juill, vol.123, issue.7, pp.3042-50, 2013.

B. M. Kublaoui, T. Gemelli, K. P. Tolson, Y. Wang, and A. R. Zinn, Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice, Mol Endocrinol. juill, vol.22, issue.7, pp.1723-1757, 2008.

A. Ullah, M. Umair, M. Yousaf, S. A. Khan, M. Nazim-ud-din et al., Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families, Mol Vis, vol.23, pp.482-94, 2017.

S. J. Ansley, J. L. Badano, O. E. Blacque, J. Hill, B. E. Hoskins et al., Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome, Nature, vol.425, issue.6958, pp.628-661, 2003.

C. Ainsworth, Cilia: tails of the unexpected, Nature. 9 août, vol.448, issue.7154, pp.638-679, 2007.

J. R. Davenport, A. J. Watts, V. C. Roper, M. J. Croyle, T. Van-groen et al., Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease, Curr Biol. 18 sept, vol.17, issue.18, pp.1586-94, 2007.

D. E. Cummings, K. Clement, J. Q. Purnell, C. Vaisse, K. E. Foster et al., Elevated plasma ghrelin levels in Prader Willi syndrome, Nat Med. juill, vol.8, issue.7, pp.643-647, 2002.

D. F. Swaab, J. S. Purba, and M. A. Hofman, Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases, J Clin Endocrinol Metab. févr, vol.80, issue.2, pp.573-582, 1995.

L. S. Weinstein, M. Chen, and J. Liu, Gs(alpha) mutations and imprinting defects in human disease, Ann N Y Acad Sci. juin, vol.968, pp.173-97, 2002.

M. Chen, J. Wang, K. E. Dickerson, J. Kelleher, T. Xie et al., Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation, Cell Metab. juin, vol.9, issue.6, pp.548-55, 2009.

R. Redon, S. Ishikawa, K. R. Fitch, L. Feuk, G. H. Perry et al., Global variation in copy number in the human genome, Nature, vol.444, issue.7118, pp.444-54, 2006.

P. Hastings, J. R. Lupski, S. M. Rosenberg, and G. Ira, Mechanisms of change in gene copy number, Nat Rev Genet. août, vol.10, issue.8, pp.551-64, 2009.

R. G. Walters, S. Jacquemont, A. Valsesia, A. J. De-smith, D. Martinet et al., A new highly

E. G. Bochukova, N. Huang, J. Keogh, E. Henning, C. Purmann et al., rare chromosomal deletions associated with severe early-onset obesity, Nature. févr, vol.463, issue.7281, pp.666-70, 2010.

D. Ren, M. Li, C. Duan, and L. Rui, Identification of SH2-B as a key regulator of leptin sensitivity, energy balance, and body weight in mice, Cell Metab. août, vol.2, issue.2, pp.95-104, 2005.

B. Dong, Z. Wang, H. Wang, and J. Ma, Associations between adiposity indicators and elevated blood pressure among Chinese children and adolescents, Journal of Human Hypertension. avr, vol.29, issue.4, pp.236-276, 2015.

F. Guo, D. R. Moellering, and W. T. Garvey, The progression of cardiometabolic disease: validation of a new cardiometabolic disease staging system applicable to obesity, Obesity (Silver Spring). janv, vol.22, issue.1, pp.110-118, 2014.

L. A. Seabolt, E. B. Welch, and H. J. Silver, Imaging methods for analyzing body composition in human obesity and cardiometabolic disease, Ann N Y Acad Sci. sept, vol.1353, pp.41-59, 2015.
DOI : 10.1111/nyas.12842
URL : https://nyaspubs.onlinelibrary.wiley.com/doi/pdf/10.1111/nyas.12842

T. L. Blake-lamb, L. M. Locks, M. E. Perkins, W. Baidal, J. A. Cheng et al., Interventions for Childhood Obesity in the First 1,000 Days A Systematic Review, Am J Prev Med, vol.50, issue.6, pp.780-789, 2016.

M. W. Gillman, H. Oakey, P. A. Baghurst, R. E. Volkmer, J. S. Robinson et al., Effect of Treatment of Gestational Diabetes Mellitus on Obesity in the Next Generation, Diabetes Care. mai, vol.33, issue.5, pp.964-972, 2010.

L. M. Wen, L. A. Baur, J. M. Simpson, C. Rissel, K. Wardle et al., Effectiveness of home based early intervention on children's BMI at age 2: randomised controlled trial, BMJ. 26 juin, vol.344, p.3732, 2012.
DOI : 10.1136/bmj.e3732
URL : https://www.bmj.com/content/344/bmj.e3732.full.pdf

J. I. Navarro, D. M. Sigulem, A. A. Ferraro, J. J. Polanco, and A. Barros, The double task of preventing malnutrition and overweight: a quasi-experimental community-based trial, BMC Public Health. 9 mars, vol.13, p.212, 2013.

P. J. Ciampa, D. Kumar, S. L. Barkin, L. M. Sanders, H. S. Yin et al., Interventions aimed at decreasing obesity in children younger than 2 years: a systematic review, Arch Pediatr Adolesc Med. déc, vol.164, issue.12, pp.1098-104, 2010.
DOI : 10.1001/archpediatrics.2010.232
URL : https://jamanetwork.com/journals/jamapediatrics/articlepdf/384105/pra05003_1098_1104.pdf

C. D. Summerbell, Evidence-basedrecommendations for the development of obesityprevention programs targeted at preschool children, Obes. Rev 13, vol.1, pp.129-132, 2012.

P. Gluckman, S. Nishtar, and T. Armstrong, Ending childhood obesity: a multidimensional challenge, Lancet. 21 mars, vol.385, issue.9973, pp.1048-50, 2015.
DOI : 10.1016/s0140-6736(15)60509-8

L. E. Burke, J. Wang, and M. A. Sevick, Self-monitoring in weight loss: a systematic review of the literature, J Am Diet Assoc. janv, vol.111, issue.1, pp.92-102, 2011.

, Executive summary: Guidelines (2013) for the management of overweight and obesity in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the Obesity Society published by the Obesity Society and American College of Cardiology/American Heart Association Task Force on Practice Guidelines. Based on a systematic review from the The Obesity Expert Panel, Obesity (Silver Spring). juill, vol.22, issue.2, pp.5-39, 2013.

C. M. Apovian, L. J. Aronne, D. H. Bessesen, M. E. Mcdonnell, M. H. Murad et al., Pharmacological management of obesity: an endocrine Society clinical practice guideline, J Clin Endocrinol Metab. févr, vol.100, issue.2, pp.342-62, 2015.

E. S. Leblanc, E. O'connor, E. P. Whitlock, C. D. Patnode, and T. Kapka, Effectiveness of primary care-relevant treatments for obesity in adults: a systematic evidence review for the U.S. Preventive Services Task Force, Ann Intern Med, vol.155, issue.7, pp.434-481, 2011.

D. F. Tate, A series of studies examining Internet treatment of obesity to inform Internet interventions for substance use and misuse, Subst Use Misuse, vol.46, issue.1, pp.57-65, 2011.

D. Mozaffarian, Food and weight gain: time to end our fear of fat, Lancet Diabetes Endocrinol

B. C. Johnston, S. Kanters, K. Bandayrel, P. Wu, F. Naji et al., Comparison of weight loss among named diet programs in overweight and obese adults: a meta-analysis, JAMA. 3 sept, vol.312, issue.9, pp.923-956, 2014.

G. A. Bray and P. W. Siri-tarino, The Role of Macronutrient Content in the Diet for Weight Management

, Endocrinol Metab Clin North Am, vol.45, issue.3, pp.581-604, 2016.

J. A. Martinez, S. Navas-carretero, W. Saris, and A. Astrup, Personalized weight loss strategies-the role of macronutrient distribution, Nat Rev Endocrinol. déc, vol.10, issue.12, pp.749-60, 2014.

G. A. Bray and P. W. Siri-tarino, The Role of Macronutrient Content in the Diet for Weight Management

, Endocrinol Metab Clin North Am, vol.45, issue.3, pp.581-604, 2016.

R. De-la-iglesia, V. Loria-kohen, M. A. Zulet, J. A. Martinez, G. Reglero et al., Dietary Strategies Implicated in the Prevention and Treatment of Metabolic Syndrome, Int J Mol Sci, vol.17, issue.11, 2016.

, Geneva: World Health Organization, Global Recommendations on Physical Activity for Health, 2010.

D. Sur,

J. Després, Body fat distribution and risk of cardiovascular disease: an update. Circulation. 4 sept, vol.126, pp.1301-1314, 2012.

T. Wu, X. Gao, M. Chen, and R. M. Van-dam, Long-term effectiveness of diet-plus-exercise interventions vs. diet-only interventions for weight loss: a meta-analysis, Obes Rev. mai, vol.10, issue.3, pp.313-336, 2009.

J. M. Jakicic, B. H. Marcus, W. Lang, and C. Janney, Effect of exercise on 24-month weight loss maintenance in overweight women, Arch Intern Med. 28 juill, vol.168, issue.14, pp.1559-1560, 2008.

. Look-ahead-research and . Group, Eight-year weight losses with an intensive lifestyle intervention: the look AHEAD study, Obesity (Silver Spring). janv, vol.22, issue.1, pp.5-13, 2014.

E. Rampersaud, B. D. Mitchell, T. I. Pollin, M. Fu, H. Shen et al., Physical Activity and the Association of Common FTO Gene Variants With Body Mass Index and Obesity, Arch Intern Med. 8 sept, vol.168, issue.16, pp.1791-1798, 2008.

, Quelle place pour la chirurgie de l'estomac ? -EurekaSanté par VIDAL

. Eurekasanté,

D. Sur,

P. R. Schauer, D. L. Bhatt, J. P. Kirwan, K. Wolski, A. Aminian et al., Bariatric Surgery versus Intensive Medical Therapy for Diabetes -5-Year Outcomes, N Engl J Med, vol.16, issue.7, pp.641-51, 2017.

G. A. Bray, G. Frühbeck, D. H. Ryan, and J. Wilding, Management of obesity, Lancet. 7 mai, vol.387, pp.1947-56, 2016.

T. H. Inge, A. P. Courcoulas, T. M. Jenkins, M. P. Michalsky, M. A. Helmrath et al., Weight Loss and Health Status 3 Years after Bariatric Surgery in Adolescents, N Engl J Med. 14 janv, vol.374, issue.2, pp.113-136, 2016.

L. Sjöström, Review of the key results from the Swedish Obese Subjects (SOS) trial -a prospective controlled intervention study of bariatric surgery, J Intern Med. mars, vol.273, issue.3, pp.219-253, 2013.

S. Ikramuddin, J. Korner, W. Lee, J. E. Connett, W. B. Inabnet et al., Roux-en-Y gastric bypass vs intensive medical management for the control of type 2 diabetes, hypertension, and hyperlipidemia: the Diabetes Surgery Study randomized clinical trial, JAMA. 5 juin, vol.309, issue.21, pp.2240-2249, 2013.

L. Sjöström, M. Peltonen, P. Jacobson, S. Ahlin, J. Andersson-assarsson et al., Association of bariatric surgery with long-term remission of type 2 diabetes and with microvascular and macrovascular complications, JAMA. 11 juin, vol.311, issue.22, pp.2297-304, 2014.

K. T. Nguyen and J. Korner, The sum of many parts: potential mechanisms for improvement in glucose homeostasis after bariatric surgery, Curr Diab Rep, vol.14, issue.5, p.481, 2014.

J. L. Colquitt, K. Pickett, E. Loveman, and G. K. Frampton, Surgery for weight loss in adults, Cochrane Database Syst Rev. 8 août, issue.8, p.3641, 2014.

S. Chang, C. Stoll, J. Song, J. E. Varela, C. J. Eagon et al., The effectiveness and risks of bariatric surgery: an updated systematic review and meta-analysis, JAMA Surg. mars, vol.149, issue.3, pp.275-87, 2003.

A. Bonnefond, R. Keller, D. Meyre, F. Stutzmann, D. Thuillier et al., Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study, Diabetes Care, vol.39, issue.8, pp.1384-92, 2016.

A. Perez-cornago, R. De-la-iglesia, P. Lopez-legarrea, I. Abete, S. Navas-carretero et al., A decline in inflammation is associated with less depressive symptoms after a dietary intervention in metabolic syndrome patients: a longitudinal study, Nutr J. 24 avr, vol.13, p.36, 2014.

M. Vallis, Quality of life and psychological well-being in obesity management: improving the odds of success by managing distress, Int J Clin Pract. mars, vol.70, issue.3, pp.196-205, 2016.

E. J. Groessl, R. M. Kaplan, E. Barrett-connor, and T. G. Ganiats, Body mass index and quality of well-being in a community of older adults, Am J Prev Med. févr, vol.26, issue.2, pp.126-135, 2004.

P. Muennig, E. Lubetkin, H. Jia, and P. Franks, Gender and the burden of disease attributable to obesity, Am J Public Health. sept, vol.96, issue.9, pp.1662-1670, 2006.

R. L. Kolotkin, R. D. Crosby, G. R. Williams, G. G. Hartley, and S. Nicol, The relationship between healthrelated quality of life and weight loss, Obes Res. sept, vol.9, issue.9, pp.564-71, 2001.

A. Pan, I. Kawachi, N. Luo, J. E. Manson, W. C. Willett et al., Changes in body weight and healthrelated quality of life: 2 cohorts of US women, Am J Epidemiol. 1 août, vol.180, issue.3, pp.254-62, 2014.

L. M. Warkentin, S. R. Majumdar, J. A. Johnson, C. B. Agborsangaya, C. F. Rueda-clausen et al., Weight loss required by the severely obese to achieve clinically important differences in healthrelated quality of life: two-year prospective cohort study, BMC Med, vol.12, p.175, 2014.

M. Kroes, G. Osei-assibey, R. Baker-searle, and J. Huang, Impact of weight change on quality of life in adults with overweight/obesity in the United States: a systematic review, Curr Med Res Opin, vol.32, issue.3, pp.485-508, 2016.

M. De-beer, G. H. Hofsteenge, H. M. Koot, R. A. Hirasing, H. A. Delemarre-van-de-waal et al., Health-related-quality-of-life in obese adolescents is decreased and inversely related to BMI, Acta Paediatr. mai, vol.96, issue.5, pp.710-714, 2007.

L. R. Ferguson, D. Caterina, R. Görman, U. Allayee, H. Kohlmeier et al., Guide and Position of the International Society of Nutrigenetics/Nutrigenomics on Personalised Nutrition: Part 1 -Fields of Precision Nutrition, J Nutrigenet Nutrigenomics, vol.9, issue.1, pp.12-27, 2016.

L. Goni, M. Cuervo, F. I. Milagro, and J. A. Martínez, Future Perspectives of Personalized Weight Loss Interventions Based on Nutrigenetic, Epigenetic, and Metagenomic Data, J Nutr. 9 mars, 2016.

J. Wu, P. Cohen, and B. M. Spiegelman, Adaptive thermogenesis in adipocytes: is beige the new brown?, Genes Dev. 1 févr, vol.27, issue.3, pp.234-50, 2013.

B. Giles-corti, A. Vernez-moudon, R. Reis, G. Turrell, A. L. Dannenberg et al., City planning and population health: a global challenge, Lancet, vol.10, pp.2912-2936, 2016.

J. Díaz-gutiérrez, M. Á. Martínez-gonzález, P. Izquierdo, J. J. González-muniesa, P. Martínez et al., Living at Higher Altitude and Incidence of Overweight/Obesity: Prospective Analysis of the SUN Cohort, PLoS ONE, vol.11, issue.11, p.164483, 2016.

C. P. Kelley, G. Sbrocco, and T. Sbrocco, Behavioral Modification for the Management of Obesity, Prim Care. mars, vol.43, issue.1, pp.159-75, 2016.

H. Huvenne, B. Dubern, K. Clément, and C. Poitou, Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016, Obes Facts. juin, vol.9, issue.3, pp.158-73, 2016.

F. Sanger, Sequences, sequences, and sequences, Annu Rev Biochem, vol.57, pp.1-28, 1988.

F. Sanger--nobel-lecture, The Chemistry of Insulin

. Nobelprize and . Org,

D. Sur,

P. Edman, A method for the determination of amino acid sequence in peptides, Arch Biochem. juill, vol.22, issue.3, p.475, 1949.

R. W. Holley, J. Apgar, G. A. Everett, J. T. Madison, M. Marquisee et al., STRUCTURE OF A RIBONUCLEIC ACID. Science. 19 mars, vol.147, issue.3664, pp.1462-1467, 1965.

F. Sanger, G. G. Brownlee, and B. G. Barrell, A two-dimensional fractionation procedure for radioactive nucleotides, J Mol Biol. sept, vol.13, issue.2, pp.373-98, 1965.

R. Wu and A. D. Kaiser, Structure and base sequence in the cohesive ends of bacteriophage lambda DNA, J Mol Biol. 14 août, vol.35, issue.3, pp.523-560, 1968.

W. Gilbert and A. Maxam, The Nucleotide Sequence of the lac Operator, Proc Natl Acad Sci U S A. déc, vol.70, issue.12, pp.3581-3585, 1973.

F. Sanger, S. Nicklen, and A. R. Coulson, DNA sequencing with chain-terminating inhibitors, Proc Natl Acad Sci USA. déc, vol.74, issue.12, pp.5463-5470, 1977.

A. M. Maxam and W. Gilbert, A new method for sequencing DNA, Proc Natl Acad Sci USA. févr, vol.74, issue.2, pp.560-564, 1977.

|. Sequencing and . Bioninja,

D. Sur, Maxam-Gilbert sequencing, Wikipedia [Internet, 2018.

D. Sur,

R. Staden, A strategy of DNA sequencing employing computer programs, Nucleic Acids Res. 11 juin, vol.6, issue.7, pp.2601-2611, 1979.

F. Sanger, A. R. Coulson, G. F. Hong, D. F. Hill, and G. B. Petersen, Nucleotide sequence of bacteriophage lambda DNA, J Mol Biol. 25 déc, vol.162, issue.4, pp.729-73, 1982.

L. M. Smith, J. Z. Sanders, R. J. Kaiser, P. Hughes, C. Dodd et al., Fluorescence detection in automated DNA sequence analysis, Nature. 12 juin, vol.321, issue.6071, pp.674-683, 1986.

S. F. Altschul, W. Gish, W. Miller, E. W. Myers, and D. J. Lipman, Basic local alignment search tool, J Mol Biol, vol.215, issue.3, pp.403-413, 1990.

J. M. Prober, G. L. Trainor, R. J. Dam, F. W. Hobbs, C. W. Robertson et al., A system for rapid DNA sequencing with fluorescent chain-terminating dideoxynucleotides, Science, vol.238, issue.4825, pp.336-377, 1987.

S. Tabor and C. C. Richardson, DNA sequence analysis with a modified bacteriophage T7 DNA polymerase, Proc Natl Acad Sci USA. juill, vol.84, issue.14, pp.4767-71, 1987.

M. Craxton, Linear amplification sequencing, a powerful method for sequencing DNA, Methods. 1 août, vol.3, issue.1, pp.20-26, 1991.

M. M. Deangelis, D. G. Wang, and T. L. Hawkins, Solid-phase reversible immobilization for the isolation of PCR products, Nucleic Acids Res, vol.23, issue.22, pp.4742-4745, 1995.

P. Phred and C. ,

D. Sur,

E. W. Myers, G. G. Sutton, A. L. Delcher, I. M. Dew, D. P. Fasulo et al., A whole-genome assembly of Drosophila, Science. 24 mars, vol.287, issue.5461, pp.2196-204, 2000.

C. Elegans-sequencing and . Consortium, International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome, Science. 11 déc, vol.282, issue.5396, pp.931-976, 1998.

J. C. Venter, M. D. Adams, E. W. Myers, P. W. Li, R. J. Mural et al., The sequence of the human genome, Science. 16 févr, vol.291, issue.5507, pp.1304-51, 2001.
URL : https://hal.archives-ouvertes.fr/hal-00465088

J. Shendure, S. Balasubramanian, G. M. Church, W. Gilbert, J. Rogers et al., DNA sequencing at 40: past, present and future, Nature, vol.550, issue.7676, pp.345-53, 2017.

T. D. Harris, P. R. Buzby, H. Babcock, E. Beer, J. Bowers et al., Single-molecule DNA sequencing of a viral genome, Science. 4 avr, vol.320, issue.5872, pp.106-115, 2008.

R. D. Mitra and G. M. Church, In situ localized amplification and contact replication of many individual DNA molecules, Nucleic Acids Res. 15 déc, vol.27, issue.24, p.34, 1999.

M. Margulies, M. Egholm, W. E. Altman, S. Attiya, J. S. Bader et al., Genome sequencing in microfabricated high-density picolitre reactors, Nature. 15 sept, vol.437, issue.7057, pp.376-80, 2005.

R. Drmanac, A. B. Sparks, M. J. Callow, A. L. Halpern, N. L. Burns et al., Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays, Science. 1 janv, vol.327, issue.5961, pp.78-81, 2010.

M. Ronaghi, S. Karamohamed, B. Pettersson, M. Uhlén, and P. Nyrén, Real-time DNA sequencing using detection of pyrophosphate release, Anal Biochem, vol.242, issue.1, pp.84-93, 1996.

R. D. Mitra, J. Shendure, J. Olejnik, E. Null, and G. M. Church, Fluorescent in situ sequencing on polymerase colonies, Anal Biochem. 1 sept, vol.320, issue.1, pp.55-65, 2003.

T. S. Seo, X. Bai, D. H. Kim, Q. Meng, S. Shi et al., Four-color DNA sequencing by synthesis on a chip using photocleavable fluorescent nucleotides, Proc Natl Acad Sci, vol.102, issue.17, pp.5926-5957, 2005.

D. R. Bentley, S. Balasubramanian, H. P. Swerdlow, G. P. Smith, J. Milton et al., Accurate whole human genome sequencing using reversible terminator chemistry, Nature, vol.456, issue.7218, pp.53-62, 2008.

, DNA Sequencing Costs: Data [Internet]. National Human Genome Research Institute (NHGRI)

M. J. Levene, J. Korlach, S. W. Turner, M. Foquet, H. G. Craighead et al., Zero-mode waveguides for single-molecule analysis at high concentrations, Science. 31 janv, vol.299, issue.5607, pp.682-688, 2003.

. Smrt-sequencing, Epigenetics

. Pacbio,

D. Sur,

D. Deamer, M. Akeson, and D. Branton, Three decades of nanopore sequencing, Nat Biotechnol, vol.06, issue.5, pp.518-542, 2016.

D. Branton, D. W. Deamer, A. Marziali, H. Bayley, S. A. Benner et al., The potential and challenges of nanopore sequencing, Nat Biotechnol, vol.26, issue.10, pp.1146-53, 2008.

M. Jain, S. Koren, K. H. Miga, J. Quick, A. C. Rand et al., Nanopore sequencing and assembly of a human genome with ultra-long reads, Nat Biotechnol. avr, vol.36, issue.4, pp.338-383, 2018.

, Decoding DNA with a pocket-sized sequencer | www.scienceinschool.org

D. Sur,

B. A. Flusberg, D. R. Webster, J. H. Lee, K. J. Travers, E. C. Olivares et al., Direct detection of DNA methylation during single-molecule, real-time sequencing, Nature Methods. juin, vol.7, issue.6, pp.461-466, 2010.

Y. Zhao, B. Ashcroft, P. Zhang, H. Liu, S. Sen et al., Single-molecule spectroscopy of amino acids and peptides by recognition tunnelling, Nat Nanotechnol. juin, vol.9, issue.6, pp.466-73, 2014.

R. Bumgarner, DNA microarrays: Types, Applications and their future, Curr Protoc Mol Biol. janv, 2013.

F. Sanger, G. M. Air, B. G. Barrell, N. L. Brown, A. R. Coulson et al., Nucleotide sequence of bacteriophage phi X174 DNA, Nature. 24 févr, vol.265, issue.5596, pp.687-95, 1977.

E. S. Lander, L. M. Linton, B. Birren, C. Nusbaum, M. C. Zody et al., Initial sequencing and analysis of the human genome, Nature. 15 févr, vol.409, issue.6822, pp.860-921, 2001.

A. Edwards, H. Voss, P. Rice, A. Civitello, J. Stegemann et al., Automated DNA sequencing of the human HPRT locus, Genomics. avr, vol.6, issue.4, pp.593-608, 1990.

V. A. Schneider, T. Graves-lindsay, K. Howe, N. Bouk, H. Chen et al., Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

, Genome Res, vol.27, issue.5, pp.849-64, 2017.

D. R. Zerbino and E. Birney, Velvet: algorithms for de novo short read assembly using de Bruijn graphs

, Genome Res. mai, vol.18, issue.5, pp.821-830, 2008.

A. Adey, J. O. Kitzman, J. N. Burton, R. Daza, A. Kumar et al., In vitro, long-range sequence information for de novo genome assembly via transposase contiguity, Genome Res. déc, vol.24, issue.12, pp.2041-2050, 2014.

J. N. Burton, A. Adey, R. P. Patwardhan, R. Qiu, J. O. Kitzman et al., Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions, Nat Biotechnol. déc, vol.31, issue.12, pp.1119-1144, 2013.

A. Mckenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis et al., The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data, Genome Res. sept, vol.20, issue.9, pp.1297-303, 2010.

M. Chaisson, J. Huddleston, M. Y. Dennis, P. H. Sudmant, M. Malig et al., Resolving the complexity of the human genome using single-molecule sequencing, Nature. 29 janv, vol.517, issue.7536, pp.608-619, 2015.

M. W. Snyder, A. Adey, J. O. Kitzman, and J. Shendure, Haplotype-resolved genome sequencing: experimental methods and applications, Nat Rev Genet. juin, vol.16, issue.6, pp.344-58, 2015.

J. Wang, W. Wang, R. Li, Y. Li, G. Tian et al., The diploid genome sequence of an Asian individual, Nature, vol.456, issue.7218, pp.60-65, 2008.

. Genomes-project-consortium, A. Auton, L. D. Brooks, R. M. Durbin, E. P. Garrison et al., A global reference for human genetic variation, Nature, vol.526, issue.7571, pp.68-74, 2015.

W. Fu, T. D. O'connor, G. Jun, H. M. Kang, G. Abecasis et al., Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants, Nature. 10 janv, vol.493, issue.7431, pp.216-236, 2013.

R. Chiu, K. Chan, Y. Gao, V. Lau, W. Zheng et al., Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

, Proc Natl Acad Sci USA. 23 déc, vol.105, issue.51, pp.20458-63, 2008.

L. Vissers, C. Gilissen, and J. A. Veltman, Genetic studies in intellectual disability and related disorders, Nat Rev Genet. janv, vol.17, issue.1, pp.9-18, 2016.

Y. Yang, D. M. Muzny, F. Xia, Z. Niu, R. Person et al., Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing, JAMA, vol.12, issue.18, pp.1870-1879, 2014.

L. D. Wood, D. W. Parsons, S. Jones, J. Lin, T. Sjöblom et al., The genomic landscapes of human breast and colorectal cancers, Science, vol.318, issue.5853, pp.1108-1121, 2007.

K. Buysse, B. Delle-chiaie, V. Coster, R. Loeys, B. De-paepe et al., Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience, Eur J Med Genet. déc, vol.52, issue.6, pp.398-403, 2009.

N. P. Carter, Methods and strategies for analyzing copy number variation using DNA microarrays, Nat Genet. juill, vol.39, issue.7, pp.16-21, 2007.

M. Zhao, Q. Wang, Q. Wang, P. Jia, and Z. Zhao, Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives, BMC Bioinformatics, vol.14, issue.11, p.1, 2013.

J. O. Korbel, A. E. Urban, J. P. Affourtit, B. Godwin, F. Grubert et al., Paired-end mapping reveals extensive structural variation in the human genome, Science, vol.318, issue.5849, pp.420-426, 2007.

P. Medvedev, M. Stanciu, and M. Brudno, Computational methods for discovering structural variation with next-generation sequencing, Nat Methods. nov, vol.6, issue.11, pp.13-20, 2009.

S. C. Shin, D. H. Ahn, S. J. Kim, H. Lee, T. Oh et al., Advantages of Single-Molecule Real-Time Sequencing in High-GC Content Genomes, PLoS ONE, vol.8, issue.7, p.68824, 2013.

H. Mason-suares, L. Landry, S. Lebo, and M. , Detecting Copy Number Variation via Next Generation Technology, Current Genetic Medicine Reports. sept, vol.4, issue.3, pp.74-85, 2016.

H. Nozaki, H. Takano, O. Misumi, K. Terasawa, M. Matsuzaki et al., A 100%-complete sequence reveals unusually simple genomic features in the hot-spring red alga Cyanidioschyzon merolae, BMC Biol. 10 juill, vol.5, p.28, 2007.

S. Ovchinnikov, H. Park, N. Varghese, P. Huang, G. A. Pavlopoulos et al., Protein Structure Determination using Metagenome sequence data, Science. 20 janv, vol.355, issue.6322, pp.294-302, 2017.

M. Gymrek, A. L. Mcguire, D. Golan, E. Halperin, and Y. Erlich, Identifying personal genomes by surname inference, Science. 18 janv, vol.339, issue.6117, pp.321-325, 2013.

J. H. Lee, E. R. Daugharthy, J. Scheiman, R. Kalhor, J. L. Yang et al., Highly multiplexed subcellular RNA sequencing in situ, Science. 21 mars, vol.343, issue.6177, pp.1360-1363, 2014.

I. D. Peikon, J. M. Kebschull, V. V. Vagin, D. I. Ravens, Y. Sun et al., Using high-throughput barcode sequencing to efficiently map connectomes, Nucleic Acids Res. 7 juill, vol.45, issue.12, p.115, 2017.

, Scaling up DNA data storage and random access retrieval | bioRxiv

D. Sur,

L. Montagne, M. Derhourhi, A. Piton, B. Toussaint, E. Durand et al., CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability, Molecular Metabolism. juill, vol.13, pp.1-9, 2018.

, Next-Generation Sequencing Library Preparation-Thermo Scientific -HK

D. Sur, thermo-scientific-specialized-molecular-biology-applications/sequencing-thermo-scientific/nextgeneration-sequencing-library-preparation-thermo-scientific.html 276. Sequencing Technology | Sequencing by synthesis

D. Sur,

, MiSeq Illumina sequencing system at Lyon

. Biofidal,

D. Sur,

H. Li and R. Durbin, Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics. 15 juill, vol.25, issue.14, pp.1754-60, 2009.

S. Richards, N. Aziz, S. Bale, D. Bick, S. Das et al., Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med. mai, vol.17, issue.5, pp.405-429, 2015.

M. Fromer, S. Purcell, J. L. Haines, B. R. Korf, C. C. Morton et al., Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data: Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data, Current Protocols in Human Genetics

N. J. Hoboken and . Usa, , 2014.

D. Backenroth, J. Homsy, L. R. Murillo, J. Glessner, E. Lin et al., CANOES: detecting rare copy number variants from whole exome sequencing data, Nucleic Acids Res. 1 août, vol.42, issue.12, p.97, 2014.

M. Krzywinski, J. Schein, ?. Birol, J. Connors, R. Gascoyne et al., Circos: An information aesthetic for comparative genomics, Genome Res. sept, vol.19, issue.9, pp.1639-1684, 2009.

S. Srinivasan, C. Lubrano-berthelier, C. Govaerts, F. Picard, P. Santiago et al., Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans, J Clin Invest, vol.114, issue.8, pp.1158-64, 2004.
URL : https://hal.archives-ouvertes.fr/hal-00427559

J. L. Crutchley, X. Wang, M. A. Ferraiuolo, and J. Dostie, Chromatin conformation signatures: ideal human disease biomarkers, Biomark Med. août, vol.4, issue.4, pp.611-640, 2010.

J. Dekker, K. Rippe, M. Dekker, and N. Kleckner, Capturing chromosome conformation, Science. 15 févr, vol.295, issue.5558, pp.1306-1317, 2002.

E. De-wit and W. De-laat, A decade of 3C technologies: insights into nuclear organization, Genes Dev. 1 janv, vol.26, issue.1, pp.11-24, 2012.

J. Davies, J. M. Telenius, S. Mcgowan, N. A. Roberts, S. Taylor et al., Multiplexed analysis of chromosome conformation at vastly improved sensitivity, Nat Methods. janv, vol.13, issue.1, pp.74-80, 2016.

M. Claussnitzer, S. N. Dankel, K. Kim, G. Quon, W. Meuleman et al., FTO Obesity Variant Circuitry and Adipocyte Browning in Humans, N Engl J Med. 3 sept, vol.373, issue.10, pp.895-907, 2015.

S. Smemo, J. J. Tena, K. Kim, E. R. Gamazon, N. J. Sakabe et al., Obesity-associated variants within FTO form long-range functional connections with IRX3, Nature. 12 mars, vol.507, issue.7492, pp.371-376, 2014.

M. Rask-andersen, M. S. Almén, and H. B. Schiöth, Scrutinizing the FTO locus: compelling evidence for a complex, long-range regulatory context. Hum Genet, vol.134, pp.1183-93, 2015.

M. Cai, F. Gao, W. Lu, and K. Wang, w4CSeq: software and web application to analyze 4C-seq data, Bioinformatics, vol.01, issue.21, pp.3333-3338, 2016.

, References Supplementary Data

A. Slavotinek, L. G. Shaffer, and S. K. Shapira, Monosomy 1p36, Journal of Medical Genetics, vol.36, issue.9, pp.657-63, 1999.

E. Knight-jones, S. Knight, H. Heussler, R. Regan, J. Flint et al., Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3. Developmental Medicine and, Child Neurology, vol.42, issue.3, pp.201-207, 2000.

M. Zenker, O. Rittinger, K. P. Grosse, M. R. Speicher, J. Kraus et al., Monosomy 1p36--a recently delineated, clinically recognizable syndrome, Clinical Dysmorphology, vol.11, issue.1, pp.43-51, 2002.

H. A. Heilstedt, B. C. Ballif, L. A. Howard, R. A. Lewis, S. Stal et al., Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome, The American Journal of Human Genetics, vol.72, issue.5, pp.1200-1212, 2003.

H. A. Heilstedt, B. C. Ballif, L. A. Howard, C. D. Kashork, and L. G. Shaffer, Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality, Clinical Genetics, vol.64, issue.4, pp.310-316, 2003.

M. Gajecka, K. L. Mackay, and L. G. Shaffer, Monosomy 1p36 deletion syndrome, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.145, issue.4, pp.346-56, 2007.

M. Jacquemont, D. Sanlaville, R. Redon, O. Raoul, V. Cormier-daire et al., Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders, Journal of Medical Genetics, vol.43, issue.11, pp.843-852, 2006.
URL : https://hal.archives-ouvertes.fr/hal-02087878

G. Kirov, A. J. Pocklington, P. Holmans, D. Ivanov, M. Ikeda et al., De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia, Molecular Psychiatry, vol.17, issue.2, pp.142-53, 2012.

E. Klopocki, H. Schulze, G. Strauß, C. Ott, J. Hall et al., Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia-Absent Radius Syndrome, The American Journal of Human Genetics, vol.80, issue.2, pp.232-272, 2007.

J. Christiansen, Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease, Circulation Research, vol.94, issue.11, pp.1429-1464, 2004.

A. J. Sharp, S. Hansen, R. R. Selzer, Z. Cheng, R. Regan et al., Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome, Nature Genetics, vol.38, issue.9, pp.1038-1080, 2006.

R. Redon, S. Ishikawa, K. R. Fitch, L. Feuk, G. H. Perry et al., Global variation in copy number in the human genome, Nature, vol.444, issue.7118, pp.444-54, 2006.

J. L. Stone, M. C. O'donovan, H. Gurling, G. K. Kirov, D. H. Blackwood et al., Rare chromosomal deletions and duplications increase risk of schizophrenia, Nature, vol.455, issue.7210, pp.237-278, 2008.

H. Stefansson, D. Rujescu, S. Cichon, O. P. Pietiläinen, A. Ingason et al., Large recurrent microdeletions associated with schizophrenia, Nature, vol.455, issue.7210, pp.232-238, 2008.

H. C. Mefford, A. J. Sharp, C. Baker, A. Itsara, Z. Jiang et al., Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes, New England Journal of Medicine, vol.359, issue.16, pp.1685-99, 2008.

N. Brunetti-pierri, J. S. Berg, F. Scaglia, J. Belmont, C. A. Bacino et al., Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities, Nature Genetics, vol.40, issue.12, pp.1466-71, 2008.

J. A. Rosenfeld, R. N. Traylor, G. B. Schaefer, E. W. Mcpherson, B. C. Ballif et al., Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes, European Journal of Human Genetics, vol.20, issue.7, pp.754-61, 2012.

P. Szatmari, A. D. Paterson, L. Zwaigenbaum, W. Roberts, J. Brian et al., Mapping autism risk loci using genetic linkage and chromosomal rearrangements, Nature Genetics, vol.39, issue.3, pp.319-347, 2007.
URL : https://hal.archives-ouvertes.fr/inserm-00937094

S. L. Christian, C. W. Brune, J. Sudi, R. A. Kumar, S. Liu et al., Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder, Biological Psychiatry, vol.63, issue.12, pp.1111-1118, 2008.

R. Parvari, I. Brodyansky, O. Elpeleg, S. Moses, D. Landau et al., A Recessive Contiguous Gene Deletion of Chromosome 2p16 Associated with Cystinuria and a Mitochondrial Disease, The American Journal of Human Genetics, vol.69, issue.4, pp.869-75, 2001.

R. Parvari, Y. Gonen, I. Alshafee, S. Buriakovsky, K. Regev et al., The 2p21 deletion syndrome: Characterization of the transcription content, Genomics, vol.86, issue.2, pp.195-211, 2005.

J. Jaeken, K. Martens, I. François, F. Eyskens, C. Lecointre et al., Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome, The American Journal of Human Genetics, vol.78, issue.1, pp.38-51, 2006.

B. Chabrol, K. Martens, S. Meulemans, A. Cano, J. Jaeken et al., Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome, Journal of Medical Genetics, vol.45, issue.5, pp.314-322, 2008.

K. Martens, J. Jaeken, G. Matthijs, and J. W. Creemers, Multi-system disorder syndromes associated with cystinuria type I, Current Molecular Medicine, vol.8, issue.6, pp.544-50, 2008.

E. Rajcan-separovic, C. Harvard, X. Liu, B. Mcgillivray, J. G. Hall et al., Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1, Journal of Medical Genetics, vol.44, issue.4, pp.269-76, 2007.

N. De-leeuw, R. Pfundt, D. A. Koolen, I. Neefs, I. Scheltinga et al., A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis, Journal of Medical Genetics, vol.45, issue.2, pp.122-126, 2007.

D. R. Fitzpatrick, Identification of SATB2 as the cleft palate gene on 2q32-q33, Human Molecular Genetics, vol.12, pp.2491-501, 2003.

G. Van-buggenhout, C. Van-ravenswaaij-arts, N. Mc-maas, R. Thoelen, A. Vogels et al., The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients, European Journal of Medical Genetics, vol.48, issue.3, pp.276-89, 2005.

M. A. Aldred, R. O. Sanford, N. S. Thomas, M. A. Barrow, L. C. Wilson et al., Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes, Journal of Medical Genetics, vol.41, issue.6, pp.433-442, 2004.

A. Shrimpton, B. Braddock, L. Thomson, C. Stein, and J. Hoo, Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype: Molecular delineation of deletions on 2q37.3, Clinical Genetics, vol.66, issue.6, pp.537-581, 2004.

J. Roohi, C. Montagna, D. H. Tegay, L. E. Palmer, C. Devincent et al., Disruption of contactin 4 in three subjects with autism spectrum disorder, Journal of Medical Genetics, vol.46, issue.3, pp.176-82, 2009.

L. Willatt, J. Cox, J. Barber, E. D. Cabanas, A. Collins et al., 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome, The American Journal of Human Genetics, vol.77, issue.1, pp.154-60, 2005.

B. C. Ballif, A. Theisen, J. Coppinger, G. C. Gowans, J. H. Hersh et al., Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication, Molecular Cytogenetics, vol.1, issue.1, 2008.

E. C. Lisi, A. Hamosh, K. F. Doheny, E. Squibb, B. Jackson et al., 3q29 interstitial microduplication: A new syndrome in a three-generation family, American Journal of Medical Genetics Part A, vol.146, issue.5, pp.601-610, 2008.

M. Zollino, C. Di-stefano, G. Zampino, P. Mastroiacovo, T. J. Wright et al., Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome, American Journal of Medical Genetics, vol.94, issue.3, pp.254-61, 2000.

C. Marcelis, C. Schrander-stumpel, J. Engelen, A. Schoonbrood-lenssen, A. Willemse et al., Wolf-Hirschhorn (4P-) syndrome in adults, Genetic Counseling, vol.12, issue.1, pp.35-48, 2001.

N. L. Shannon, E. L. Maltby, A. S. Rigby, and O. W. Quarrell, An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality, Journal of Medical Genetics, vol.38, issue.10, pp.674-683, 2001.

M. Zollino, R. Lecce, R. Fischetto, M. Murdolo, F. Faravelli et al., Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2, The American Journal of Human Genetics, vol.72, issue.3, pp.590-597, 2003.

M. Medina, R. C. Marinescu, J. Overhauser, and K. S. Kosik, Hemizygosity of ?-Catenin (CTNND2) Is Associated with Severe Mental Retardation in Cri-du-Chat Syndrome, Genomics, vol.63, issue.2, pp.157-64, 2000.

G. J. Van-buggenhout, E. Pijkels, M. Holvoet, C. Schaap, B. C. Hamel et al., Cri du chat syndrome: changing phenotype in older patients, American Journal of Medical Genetics, vol.90, issue.3, pp.203-218, 2000.

P. C. Mainardi, C. Perfumo, A. Calì, G. Coucourde, G. Pastore et al., Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation, Journal of Medical Genetics, vol.38, issue.3, pp.151-159, 2001.

A. Mosca-boidron, L. Gueneau, G. Huguet, A. Goldenberg, C. Henry et al., A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability, European Journal of Human Genetics, vol.24, issue.6, pp.838-881, 2016.
URL : https://hal.archives-ouvertes.fr/pasteur-01342825

O. M. Sieber, H. Lamlum, M. D. Crabtree, A. J. Rowan, E. Barclay et al., Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas, Proceedings of the National Academy of Sciences, vol.99, issue.5, pp.2954-2962, 2002.

G. Michils, S. Tejpar, R. Thoelen, E. V. Cutsem, J. R. Vermeesch et al., Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): A Belgian study, Human Mutation, vol.25, issue.2, pp.125-159, 2005.

N. Kurotaki, K. Imaizumi, N. Harada, M. Masuno, T. Kondoh et al., Haploinsufficiency of NSD1 causes Sotos syndrome, Nature Genetics, vol.30, issue.4, pp.365-371, 2002.

N. Kurotaki, N. Harada, O. Shimokawa, N. Miyake, H. Kawame et al., Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion, Human Mutation, vol.22, issue.5, pp.378-87, 2003.

N. Kurotaki, Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats, Human Molecular Genetics, vol.14, issue.4, pp.535-577, 2004.

K. Tatton-brown, Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome, Journal of Medical Genetics, vol.42, issue.4, pp.307-320, 2005.

K. Tatton-brown, J. Douglas, K. Coleman, G. Baujat, T. R. Cole et al., Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations, The American Journal of Human Genetics, vol.77, issue.2, pp.193-204, 2005.

K. Tatton-brown and N. Rahman, Sotos syndrome, European Journal of Human Genetics, vol.15, issue.3, pp.264-71, 2007.

C. Depienne, D. Heron, C. Betancur, B. Benyahia, O. Trouillard et al., Autism, language delay and mental retardation in a patient with 7q11 duplication, Journal of Medical Genetics, vol.44, issue.7, pp.452-460, 2007.
URL : https://hal.archives-ouvertes.fr/inserm-00166907

M. J. Somerville, C. B. Mervis, E. J. Young, E. Seo, M. Del-campo et al., Severe ExpressiveLanguage Delay Related to Duplication of the Williams-Beuren Locus, New England Journal of Medicine, vol.353, issue.16, pp.1694-701, 2005.

, American Academy of Pediatrics: Health care supervision for children with Williams syndrome, Pediatrics, vol.107, issue.5, pp.1192-204, 2001.

L. R. Osborne, M. Li, B. Pober, D. Chitayat, J. Bodurtha et al., A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome, Nature Genetics, vol.29, issue.3, pp.321-326, 2001.
URL : https://hal.archives-ouvertes.fr/hal-00982680

M. Eronen, M. Peippo, A. Hiippala, M. Raatikka, M. Arvio et al., Cardiovascular manifestations in 75 patients with Williams syndrome, Journal of Medical Genetics, vol.39, issue.8, pp.554-562, 2002.

M. Bayés, L. F. Magano, N. Rivera, R. Flores, and L. A. Pérez-jurado, Mutational mechanisms of Williams-Beuren syndrome deletions, American Journal of Human Genetics, vol.73, issue.1, pp.131-51, 2003.

M. Tassabehji, Williams-Beuren syndrome: a challenge for genotype-phenotype correlations, Human Molecular Genetics, vol.12, issue.2, pp.229-266, 2003.

C. A. Morris, C. B. Mervis, H. H. Hobart, R. G. Gregg, J. Bertrand et al., GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region, American Journal of Medical Genetics, vol.123, issue.1, pp.45-59, 2003.

M. Tassabehji, GTF2IRD1 in Craniofacial Development of Humans and Mice, Science, vol.310, issue.5751, pp.1184-1191, 2005.

M. Del-campo, A. Antonell, L. F. Magano, F. J. Muñoz, R. Flores et al., , p.1, 2006.

, Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension, The American Journal of Human Genetics, vol.78, issue.4, pp.533-575

A. Meyer-lindenberg, C. B. Mervis, F. Berman, and K. , Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour, Nature Reviews Neuroscience, vol.7, issue.5, pp.380-93, 2006.

S. J. Sanders, A. G. Ercan-sencicek, V. Hus, R. Luo, M. T. Murtha et al., Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism. Neuron, vol.70, issue.5, pp.863-85, 2011.

S. E. Palmer, S. W. Scherer, M. Kukolich, E. M. Wijsman, L. C. Tsui et al., Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation, American Journal of Human Genetics, vol.55, issue.1, pp.21-27, 1994.

G. P. Jarvik, M. A. Patton, T. Homfray, and J. P. Evans, Non-Mendelian transmission in a human developmental disorder: split hand/split foot, American Journal of Human Genetics, vol.55, issue.4, pp.710-713, 1994.

S. W. Scherer, P. Poorkaj, T. Allen, J. Kim, D. Geshuri et al., Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1, American Journal of Human Genetics, vol.55, issue.1, pp.12-20, 1994.

M. Genuardi, M. G. Pomponi, V. Sammito, A. Bellussi, M. Zollino et al., Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1, American Journal of Medical Genetics, vol.47, issue.6, pp.823-854, 1993.

M. A. Crackower, S. W. Scherer, J. M. Rommens, C. C. Hui, P. Poorkaj et al., Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development, Human Molecular Genetics, vol.5, issue.5, pp.571-580, 1996.

J. Ignatius, S. Knuutila, S. W. Scherer, B. Trask, and J. Kere, Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3, Journal of Medical Genetics, vol.33, issue.6, pp.507-517, 1996.

D. Tackels-horne, A. Toburen, E. Sangiorgi, F. Gurrieri, X. De-mollerat et al., Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21, Clinical Genetics, vol.59, issue.1, pp.28-36, 2001.

R. F. Robledo, The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development, Genes & Development, vol.16, issue.9, pp.1089-101, 2002.

L. Faivre, N. Morichon-delvallez, G. Viot, F. Narcy, S. Loison et al., Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature, Prenatal Diagnosis, vol.18, issue.10, pp.1055-60, 1998.

K. Devriendt, G. Matthijs, R. Van-dael, M. Gewillig, B. Eyskens et al., Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23, American Journal of Human Genetics, vol.1, issue.4, pp.1119-1145, 1999.

T. Pehlivan, B. R. Pober, M. Brueckner, S. Garrett, R. Slaugh et al., GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease, American Journal of Medical Genetics, vol.83, issue.3, pp.201-207, 1999.

O. Shimokawa, N. Miyake, T. Yoshimura, N. Sosonkina, N. Harada et al., Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia, American Journal of Medical Genetics Part A, vol.136, issue.1, pp.49-51, 2005.

A. Slavotinek, Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1, Journal of Medical Genetics, vol.42, issue.9, pp.730-736, 2005.

E. J. Hollox, J. C. Barber, A. J. Brookes, and J. A. Armour, Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23, Genome Research, vol.1, issue.11, pp.1686-97, 2008.

M. C. Aldhous, S. Bakar, N. J. Prescott, R. Palla, K. Soo et al., Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease, Human Molecular Genetics, vol.19, issue.24, pp.4930-4938, 2010.

L. Ballarati, A. Cereda, R. Caselli, A. Selicorni, M. P. Recalcati et al., Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature, European Journal of Medical Genetics, vol.54, issue.1, pp.55-64, 2011.

J. C. Barber, J. A. Rosenfeld, J. M. Graham, N. Kramer, K. L. Lachlan et al., Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance, American Journal of Medical Genetics Part A, vol.167, issue.9, pp.2052-64, 2015.

J. C. Barber, J. A. Rosenfeld, N. Foulds, S. Laird, M. S. Bateman et al., 1 duplication syndrome; common, confirmed, and novel features in six further patients, American Journal of Medical Genetics Part A, vol.161, issue.8p23, pp.487-500, 2013.

J. C. Barber, D. Bunyan, M. Curtis, D. Robinson, S. Morlot et al., 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families, Molecular Cytogenetics, vol.3, issue.1, p.3, 2010.

J. C. Barber, V. K. Maloney, S. Huang, D. J. Bunyan, L. Cresswell et al., 1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH, European Journal of Human Genetics, vol.8, issue.23, pp.18-27, 2008.

J. C. Barber, V. Maloney, E. J. Hollox, A. Stuke-sontheimer, G. Du-bois et al., Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level, European Journal of Human Genetics, vol.13, issue.10, pp.1131-1137, 2005.

K. Fellermann, D. E. Stange, E. Schaeffeler, H. Schmalzl, J. Wehkamp et al., , 2006.

. Gene-cluster, Polymorphism with Low Human Beta-Defensin 2 Gene Copy Number Predisposes to Crohn Disease of the Colon, The American Journal of Human Genetics, vol.79, issue.3, pp.439-487

S. Giglio, K. W. Broman, N. Matsumoto, V. Calvari, G. Gimelli et al., Olfactory Receptor-Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements, The American Journal of Human Genetics, vol.68, issue.4, pp.874-83, 2001.

E. J. Hollox, U. Huffmeier, P. L. Zeeuwen, R. Palla, J. Lascorz et al., Psoriasis is associated with increased ?-defensin genomic copy number, Nature Genetics, vol.40, issue.1, pp.23-28, 2008.

M. Longoni, K. Lage, M. K. Russell, M. Loscertales, O. A. Abdul-rahman et al., Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks, American Journal of Medical Genetics Part A, vol.158, issue.12, pp.3148-58, 2012.

M. T. Páez, T. Yamamoto, K. Hayashi, T. Yasuda, N. Harada et al., Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits, American Journal of Medical Genetics Part A, vol.146, issue.9, pp.1158-65, 2008.

P. E. Stuart, U. Hüffmeier, R. P. Nair, R. Palla, T. Tejasvi et al., Association of ?-Defensin Copy Number and Psoriasis in Three Cohorts of European Origin, Journal of Investigative Dermatology, vol.132, issue.10, pp.2407-2420, 2012.

M. J. Wat, O. A. Shchelochkov, A. M. Holder, A. M. Breman, A. Dagli et al., Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia, American Journal of Medical Genetics Part A, vol.149, issue.8, pp.1661-77, 2009.

S. Yu, X. Zhou, S. D. Fiedler, S. J. Brawner, J. M. Joyce et al., Cardiac Defects Are Infrequent Findings in Individuals With 8p23.1 Genomic Duplications Containing GATA4, Circulation: Cardiovascular Genetics, vol.4, issue.6, pp.620-625, 2011.

S. Yu, S. Fiedler, A. Stegner, and W. D. Graf, Genomic profile of copy number variants on the short arm of human chromosome 8, European Journal of Human Genetics, vol.18, issue.10, pp.1114-1134, 2010.

M. Palomares, A. Delicado, E. Mansilla, M. L. De-torres, E. Vallespín et al., Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype, The American Journal of Human Genetics, vol.89, issue.2, pp.295-301, 2011.

V. Cormier-daire, F. Molinari, M. Rio, O. Raoul, M. De-blois et al., Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood, Journal of Medical Genetics, vol.40, issue.4, pp.300-303, 2003.
URL : https://hal.archives-ouvertes.fr/hal-02090123

D. R. Stewart, A. Huang, F. Faravelli, B. Anderlid, L. Medne et al., Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome: Subtelomeric 9q Deletion Syndrome, American Journal of Medical Genetics Part A, vol.128, issue.4, pp.340-51, 2004.

K. R. Neas, J. M. Smith, N. Chia, S. Huseyin, L. S. Heaps et al., Three patients with terminal deletions within the subtelomeric region of chromosome 9q, American Journal of Medical Genetics Part A, vol.132, issue.4, pp.425-455, 2005.

S. A. Yatsenko, Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly, Journal of Medical Genetics, vol.42, issue.4, pp.328-363, 2005.

T. Kleefstra, D. A. Koolen, W. M. Nillesen, N. De-leeuw, B. C. Hamel et al., Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome, American Journal of Medical Genetics Part A, vol.140, issue.6, pp.618-641, 2006.

N. Harada, R. Visser, A. Dawson, M. Fukamachi, M. Iwakoshi et al., A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome, Journal of Human Genetics, vol.49, issue.8, pp.440-444, 2004.

J. Balciuniene, N. Feng, K. Iyadurai, B. Hirsch, L. Charnas et al., Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities, The American Journal of Human Genetics, vol.80, issue.5, pp.938-985, 2007.

J. A. Crolla, J. E. Cawdery, C. A. Oley, I. D. Young, J. Gray et al., A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus, Journal of Medical Genetics, vol.34, issue.3, pp.207-219, 1997.

J. A. Crolla and V. Van-heyningen, Frequent Chromosome Aberrations Revealed by Molecular Cytogenetic Studies in Patients with Aniridia, The American Journal of Human Genetics, vol.71, issue.5, pp.1138-1187, 2002.

D. A. Scott, M. L. Cooper, P. Stankiewicz, A. Patel, L. Potocki et al., Congenital diaphragmatic hernia in WAGR syndrome, American Journal of Medical Genetics Part A, vol.134, issue.4, pp.430-433, 2005.

J. Gray, G. S. Yeo, J. J. Cox, J. Morton, A. R. Adlam et al., Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene, Diabetes, vol.55, issue.12, pp.3366-71, 2006.

K. Wakui, G. Gregato, B. C. Ballif, C. D. Glotzbach, K. A. Bailey et al., Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome, European Journal of Human Genetics, vol.13, issue.5, pp.528-568, 2005.

J. Thevenon, P. Callier, J. Andrieux, B. Delobel, A. David et al., 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech, European Journal of Human Genetics, vol.21, issue.1, pp.82-90, 2013.

B. Menten, K. Buysse, F. Zahir, J. Hellemans, S. J. Hamilton et al., Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14, Journal of Medical Genetics, vol.44, issue.4, pp.264-272, 2007.

A. Moncla, P. Malzac, M. Voelckel, P. Auquier, L. Girardot et al., Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients, European Journal of Human Genetics, vol.7, issue.2, pp.131-140, 1999.

A. Moncla, P. Malzac, M. O. Livet, M. A. Voelckel, J. Mancini et al., Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling, Journal of Medical Genetics, vol.36, issue.7, pp.554-60, 1999.

C. C. Glenn, G. Deng, R. C. Michaelis, J. Tarleton, M. C. Phelan et al., DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting, Prenatal Diagnosis, vol.20, issue.4, pp.300-306, 2000.

H. Kokkonen and J. Leisti, An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family, Human Genetics, vol.107, issue.1, pp.83-88, 2000.

A. C. Lossie, M. M. Whitney, D. Amidon, H. J. Dong, P. Chen et al., Distinct phenotypes distinguish the molecular classes of Angelman syndrome, Journal of Medical Genetics, vol.38, issue.12, pp.834-879, 2001.

J. Clayton-smith and L. Laan, Angelman syndrome: a review of the clinical and genetic aspects, Journal of Medical Genetics, vol.40, issue.2, pp.87-95, 2003.

T. Sahoo, Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations, Journal of Medical Genetics, vol.43, issue.6, pp.512-518, 2006.

A. Schulze, H. Mogensen, B. Hamborg-petersen, N. Graem, J. R. Ostergaard et al., Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring, Acta Paediatrica, vol.90, issue.4, pp.455-464, 1992.

A. J. Holland, J. E. Whittington, J. Butler, T. Webb, H. Boer et al., Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome, Psychological Medicine, vol.33, issue.1, pp.141-53, 2003.

J. Chai, D. P. Locke, J. M. Greally, J. H. Knoll, T. Ohta et al., Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons, The American Journal of Human Genetics, vol.73, issue.4, pp.898-925, 2003.

A. P. Goldstone, Prader-Willi syndrome: advances in genetics, pathophysiology and treatment, Trends in Endocrinology and Metabolism: TEM, vol.15, issue.1, pp.12-20, 2004.

C. T. Schrander-stumpel, L. M. Curfs, P. Sastrowijoto, S. B. Cassidy, J. J. Schrander et al., Prader-Willi syndrome: Causes of death in an international series of 27 cases, American Journal of Medical Genetics, vol.124, issue.4, pp.333-341, 2004.

B. Kantor, Control elements within the PWS/AS imprinting box and their function in the imprinting process, Human Molecular Genetics, vol.13, issue.7, pp.751-62, 2004.

M. W. Veltman, R. J. Thompson, S. E. Roberts, N. S. Thomas, J. Whittington et al., Prader-Willi syndrome, European Child & Adolescent Psychiatry, vol.13, issue.1, pp.42-50, 2004.

M. G. Butler, D. C. Bittel, N. Kibiryeva, Z. Talebizadeh, and T. Thompson, Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy, Pediatrics, vol.113, pp.565-73, 2004.

A. J. Sharp, R. R. Selzer, J. A. Veltman, S. Gimelli, G. Gimelli et al., Characterization of a recurrent 15q24 microdeletion syndrome, Human Molecular Genetics, vol.16, issue.5, pp.567-72, 2007.

E. Klopocki, L. M. Graul-neumann, U. Grieben, H. Tönnies, H. Ropers et al., A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH, European Journal of Pediatrics, vol.167, issue.8, pp.903-911, 2008.

H. C. Mefford, J. A. Rosenfeld, N. Shur, A. M. Slavotinek, V. A. Cox et al., Further clinical and molecular delineation of the 15q24 microdeletion syndrome, Journal of Medical Genetics, vol.49, issue.2, pp.110-118, 2012.

Y. Okubo, K. Siddle, H. Firth, S. O'rahilly, L. C. Wilson et al., Cell Proliferation Activities on Skin Fibroblasts from a Short Child with Absence of One Copy of the Type 1 Insulin-Like Growth Factor Receptor (IGF1R) Gene and a Tall Child with Three Copies of the IGF1R Gene, The Journal of Clinical Endocrinology & Metabolism, vol.88, issue.12, pp.5981-5989, 2003.

K. Tatton-brown, D. T. Pilz, K. H. Örstavik, M. Patton, J. C. Barber et al., 15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q, American Journal of Medical Genetics Part A, vol.149, issue.2, pp.147-54, 2009.

J. Lamb, P. C. Harris, A. O. Wilkie, W. G. Wood, J. G. Dauwerse et al., De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16), American Journal of Human Genetics, vol.52, issue.4, pp.668-76, 1993.

N. M. Lindor, M. G. Valdes, M. Wick, S. N. Thibodeau, and S. Jalal, De novo 16p deletion: ATR-16 syndrome, American Journal of Medical Genetics, vol.72, issue.4, pp.451-455, 1997.

R. J. Daniels, J. F. Peden, C. Lloyd, S. W. Horsley, K. Clark et al., Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16, Human Molecular Genetics, vol.10, issue.4, pp.339-52, 2001.

S. Aradhya, R. Lewis, T. Bonaga, N. Nwokekeh, A. Stafford et al., Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders, Genetics in Medicine: Official Journal of the American College of Medical Genetics, vol.14, issue.6, pp.594-603, 2012.

D. Rusconi, G. Negri, P. Colapietro, C. Picinelli, D. Milani et al., Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire, Human Genetics, vol.134, issue.6, pp.613-639, 2015.

R. Ullmann, G. Turner, M. Kirchhoff, W. Chen, B. Tonge et al., Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation, Human Mutation, vol.28, issue.7, pp.674-82, 2007.

F. D. Hannes, A. J. Sharp, H. C. Mefford, T. De-ravel, C. A. Ruivenkamp et al., Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant, Journal of Medical Genetics, vol.46, issue.4, pp.223-255, 2009.

C. G. De-kovel, H. Trucks, I. Helbig, H. C. Mefford, C. Baker et al., Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies, Brain, vol.133, issue.1, pp.23-32, 2010.

H. C. Mefford, G. M. Cooper, T. Zerr, J. D. Smith, C. Baker et al., A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease, Genome Research, vol.19, issue.9, pp.1579-85, 2009.

J. J. Engelen, C. E. De-die-smulders, R. Dirckx, W. M. Verhoeven, S. Tuinier et al., Duplication of chromosome region (16)(p11.2 ? p12.1) in a mother and daughter with mild mental retardation, American Journal of Medical Genetics, vol.109, issue.2, pp.149-53, 2002.

P. Finelli, F. Natacci, M. T. Bonati, G. Gottardi, J. J. Engelen et al., FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour, Journal of Medical Genetics, vol.41, issue.7, p.90, 2004.

B. C. Ballif, S. A. Hornor, E. Jenkins, S. Madan-khetarpal, U. Surti et al., Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2, Nature Genetics, vol.39, issue.9, pp.1071-1074, 2007.

S. Girirajan, J. A. Rosenfeld, G. M. Cooper, F. Antonacci, P. Siswara et al., A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay, Nature Genetics, vol.42, issue.3, pp.203-212, 2010.

A. Tabet, M. Pilorge, R. Delorme, F. Amsellem, J. Pinard et al., Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother, European Journal of Human Genetics, vol.20, issue.5, pp.540-546, 2012.
URL : https://hal.archives-ouvertes.fr/inserm-00661857

J. C. Barber, V. Hall, V. K. Maloney, S. Huang, A. M. Roberts et al., 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2, European Journal of Human Genetics, vol.21, issue.2, pp.182-191, 2013.

N. Okamoto, T. Fujii, J. Tanaka, K. Saito, T. Matsui et al., A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2, American Journal of Medical Genetics Part A, vol.164, issue.1, pp.213-222, 2014.

L. A. Weiss, Y. Shen, J. M. Korn, D. E. Arking, D. T. Miller et al., Association between Microdeletion and Microduplication at 16p11.2 and Autism, New England Journal of Medicine, vol.358, issue.7, pp.667-75, 2008.

S. E. Mccarthy, V. Makarov, G. Kirov, A. M. Addington, J. Mcclellan et al., Microduplications of 16p11.2 are associated with schizophrenia, Nature Genetics, vol.41, issue.11, pp.1223-1230, 2009.

M. Shinawi, P. Liu, S. H. Kang, J. Shen, J. W. Belmont et al., Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size, Journal of Medical Genetics, vol.47, issue.5, pp.332-373, 2010.

S. Jacquemont, A. Reymond, F. Zufferey, L. Harewood, R. G. Walters et al., Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus, Nature, vol.478, issue.7367, pp.97-102, 2011.
URL : https://hal.archives-ouvertes.fr/inserm-00619240

R. G. Walters, S. Jacquemont, A. Valsesia, A. J. De-smith, D. Martinet et al., A new highly penetrant form of obesity due to deletions on chromosome 16p11.2, Nature, vol.463, issue.7281, pp.671-676, 2010.

C. Cardoso, R. J. Leventer, H. L. Ward, K. Toyo-oka, J. Chung et al., Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3, The American Journal of Human Genetics, vol.72, issue.4, pp.918-948, 2003.

M. Kato and W. B. Dobyns, Lissencephaly and the molecular basis of neuronal migration, Human Molecular Genetics, vol.12, issue.1, pp.89-96, 2003.

K. Toyo-oka, A. Shionoya, M. J. Gambello, C. Cardoso, R. Leventer et al., 14-3-3? is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome, Nature Genetics, vol.34, issue.3, pp.274-85, 2003.

J. Yingling, K. Toyo-oka, and A. Wynshaw-boris, Miller-Dieker Syndrome: Analysis of a Human Contiguous Gene Syndrome in the Mouse, The American Journal of Human Genetics, vol.73, issue.3, pp.475-88, 2003.

C. F. Boerkoel, K. Inoue, L. T. Reiter, L. E. Warner, and J. R. Lupski, Molecular mechanisms for CMT1A duplication and HNPP deletion, Annals of the New York Academy of Sciences, vol.883, pp.22-35, 1999.

C. F. Boerkoel, H. Takashima, C. A. Garcia, R. K. Olney, J. Johnson et al., Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation, Annals of Neurology, vol.51, issue.2, pp.190-201, 2002.

K. Szigeti, C. A. Garcia, and J. R. Lupski, Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management, Genetics in Medicine: Official Journal of the American College of Medical Genetics, vol.8, issue.2, pp.86-92, 2006.

P. F. Chance, M. K. Alderson, K. A. Leppig, M. W. Lensch, N. Matsunami et al., DNA deletion associated with hereditary neuropathy with liability to pressure palsies, Cell, vol.72, issue.1, pp.143-51, 1993.

P. Mouton, S. Tardieu, R. Gouider, N. Birouk, T. Maisonobe et al., Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion, Neurology, vol.52, issue.7, pp.1440-1446, 1999.

J. Li, K. Krajewski, M. E. Shy, and R. A. Lewis, Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name, Neurology, vol.58, issue.12, pp.1769-73, 2002.

P. J. Koehler, Neurology, vol.60, issue.7, pp.1211-1214, 1947.

Y. Hong, M. Kim, H. Kim, J. Sung, S. H. Kim et al., Clinical and electrophysiologic features of HNPP patients with 17p11.2 deletion, Acta Neurologica Scandinavica, vol.108, issue.5, pp.352-360, 2003.

K. Chen, P. Manian, T. Koeuth, L. Potocki, Q. Zhao et al., Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome, Nature Genetics, vol.17, issue.2, pp.154-63, 1997.

O. Udwin, C. Webber, and I. Horn, Abilities and attainment in Smith-Magenis syndrome, Developmental Medicine and Child Neurology, vol.43, issue.12, pp.823-831, 2001.

C. J. Shaw, W. Bi, and J. R. Lupski, Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2, The American Journal of Human Genetics, vol.71, issue.5, pp.1072-81, 2002.

L. Potocki, C. J. Shaw, P. Stankiewicz, and J. R. Lupski, Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome, 2003.

, Genetics in Medicine: Official Journal of the American College of Medical Genetics, vol.5, issue.6, pp.430-434

R. E. Slager, T. L. Newton, C. N. Vlangos, B. Finucane, and S. H. Elsea, Mutations in RAI1 associated with SmithMagenis syndrome, Nature Genetics, vol.33, issue.4, pp.466-474, 2003.

K. Walz, Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2), Human Molecular Genetics, vol.13, issue.4, pp.367-78, 2003.

C. J. Shaw, C. A. Shaw, W. Yu, P. Stankiewicz, L. D. White et al., Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders, Journal of Medical Genetics, vol.41, issue.2, pp.113-122, 2004.

J. R. Lupski, Genomic rearrangements and sporadic disease, Nature Genetics, vol.39, issue.7s, pp.43-50, 2007.

L. Potocki, K. S. Chen, S. S. Park, D. E. Osterholm, M. A. Withers et al., Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion, Nature Genetics, vol.24, issue.1, pp.84-91, 2000.

L. Potocki, W. Bi, D. Treadwell-deering, C. M. Carvalho, A. Eifert et al., Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype, The American Journal of Human Genetics, vol.80, issue.4, pp.633-682, 2007.

M. O. Dorschner, V. P. Sybert, M. Weaver, B. A. Pletcher, and K. Stephens, NF1 microdeletion breakpoints are clustered at flanking repetitive sequences, Human Molecular Genetics, vol.9, issue.1, pp.35-46, 2000.

L. Kluwe, R. Siebert, S. Gesk, R. E. Friedrich, S. Tinschert et al., Screening 500 unselected neurofibromatosis 1 patients for deletions of theNF1 gene, Human Mutation, vol.23, issue.2, pp.111-117, 2004.

M. Venturin, P. Guarnieri, F. Natacci, M. Stabile, R. Tenconi et al., Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2, Journal of Medical Genetics, vol.41, issue.1, pp.35-41, 2004.

H. Kehrer-sawatzki, L. Kluwe, C. Sandig, M. Kohn, K. Wimmer et al., High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene, The American Journal of Human Genetics, vol.75, issue.3, pp.410-433, 2004.

C. Bellanne-chantelot, S. Clauin, D. Chauveau, P. Collin, M. Daumont et al., Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1 (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5, Diabetes, vol.54, issue.11, pp.3126-3158, 2005.

H. C. Mefford, S. Clauin, A. J. Sharp, R. S. Moller, R. Ullmann et al., Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy, The American Journal of Human Genetics, vol.81, issue.5, pp.1057-69, 2007.

C. Shaw-smith, A. M. Pittman, L. Willatt, H. Martin, L. Rickman et al., Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability, Nature Genetics, vol.38, issue.9, pp.1032-1039, 2006.

D. A. Koolen, L. E. Vissers, R. Pfundt, N. De-leeuw, S. J. Knight et al., A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism, Nature Genetics, vol.38, issue.9, pp.999-1001, 2006.

J. R. Lupski, Genome structural variation and sporadic disease traits, Nature Genetics, vol.38, issue.9, pp.974-980, 2006.

M. Kirchhoff, A. Bisgaard, M. Duno, F. J. Hansen, and M. Schwartz, A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features, European Journal of Medical Genetics, vol.50, issue.4, pp.256-63, 2007.

D. A. Koolen, A. J. Sharp, J. A. Hurst, H. V. Firth, S. J. Knight et al., Clinical and molecular delineation of the 17q21.31 microdeletion syndrome, Journal of Medical Genetics, vol.45, issue.11, pp.710-730, 2008.

D. A. Koolen, J. M. Kramer, K. Neveling, W. M. Nillesen, H. L. Moore-barton et al., Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome, Nature Genetics, vol.44, issue.6, pp.639-680, 2012.

M. Zollino, D. Orteschi, M. Murdolo, S. Lattante, D. Battaglia et al., Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype, Nature Genetics, vol.44, issue.6, pp.636-644, 2012.

T. K. Footz, Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A Search for Candidate Genes at or near the Human Chromosome 22 Pericentromere, Genome Research, vol.11, issue.6, pp.1053-70, 2001.

M. J. Berends, G. Tan-sindhunata, B. Leegte, and A. J. Van-essen, Phenotypic variability of Cat-Eye syndrome, Genetic Counseling, vol.12, issue.1, pp.23-34, 2001.

H. E. Mcdermid and B. E. Morrow, Genomic Disorders on 22q11, The American Journal of Human Genetics, vol.70, issue.5, pp.1077-88, 2002.

M. Gentile, S. De-sanctis, F. Cariola, T. Spezzi, A. Di-carlo et al., FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II, European Journal of Medical Genetics, vol.48, issue.1, pp.33-42, 2005.

A. K. Ryan, J. A. Goodship, D. I. Wilson, N. Philip, A. Levy et al., Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study, Journal of Medical Genetics, vol.34, issue.10, pp.798-804, 1997.

E. Perez and K. E. Sullivan, Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes), 2002.

, Current Opinion in Pediatrics, vol.14, issue.6, pp.678-83

K. L. Greenhalgh, I. A. Aligianis, G. Bromilow, H. Cox, C. Hill et al., 22q11 deletion: a multisystem disorder requiring multidisciplinary input, Archives of Disease in Childhood, vol.88, issue.6, pp.523-527, 2003.

A. Rauch, Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2, Journal of Medical Genetics, vol.42, issue.11, pp.871-877, 2005.

R. E. Ensenauer, A. Adeyinka, H. C. Flynn, V. V. Michels, N. M. Lindor et al., Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients, The American Journal of Human Genetics, vol.73, issue.5, pp.1027-1067, 2003.

T. M. Yobb, M. J. Somerville, L. Willatt, H. V. Firth, K. Harrison et al., Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome, The American Journal of Human Genetics, vol.76, issue.5, pp.865-76, 2005.

M. Portnoï, F. Lebas, N. Gruchy, A. Ardalan, V. Biran-mucignat et al., 2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes, American Journal of Medical Genetics Part A, vol.137, issue.1, pp.47-51, 2005.

A. Alberti, C. Romano, M. Falco, F. Calì, P. Schinocca et al., , 2007.

, microduplication in a patient with cognitive deficits and dysmorphic facial features, Clinical Genetics, vol.71, issue.2, pp.177-82

Z. Ou, J. S. Berg, H. Yonath, V. B. Enciso, D. T. Miller et al., Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes, Genetics in Medicine, vol.10, issue.4, pp.267-77, 2008.

C. Wentzel, M. Fernström, Y. Öhrner, G. Annerén, and A. Thuresson, Clinical variability of the 22q11.2 duplication syndrome, European Journal of Medical Genetics, vol.51, issue.6, pp.501-511, 2008.

S. Ben-shachar, Z. Ou, C. A. Shaw, J. W. Belmont, M. S. Patel et al., Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome, The American Journal of Human Genetics, vol.82, issue.1, pp.214-235, 2008.

M. A. Manning, S. B. Cassidy, C. Clericuzio, A. M. Cherry, S. Schwartz et al., Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum, Pediatrics, vol.114, issue.2, pp.451-458, 2004.

D. A. Koolen, W. Reardon, E. M. Rosser, D. Lacombe, J. A. Hurst et al., Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation, European Journal of Human Genetics, vol.13, issue.9, pp.1019-1043, 2005.

M. C. Bonaglia, R. Giorda, E. Mani, G. Aceti, B. Anderlid et al., Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome, Journal of Medical Genetics, vol.43, issue.10, pp.822-830, 2006.

A. L. Phelan, A. R. Kunselman, C. H. Chuang, N. T. Raja-khan, and R. S. Legro, Exclusion of Women of Childbearing Potential in Clinical Trials of Type 2 Diabetes Medications: A Review of Protocol-Based Barriers to Enrollment, Diabetes Care, p.152723, 2016.

M. Gómez-zaera, T. M. Strom, B. Rodríguez, X. Estivill, T. Meitinger et al., Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees, Molecular Genetics and Metabolism, vol.72, issue.1, pp.72-81, 2001.

R. R. Kapoor, S. E. Flanagan, V. B. Arya, J. P. Shield, S. Ellard et al., Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism, European Journal of Endocrinology, vol.168, issue.4, pp.557-64, 2013.

A. R. Majithia, J. Flannick, P. Shahinian, M. Guo, M. Bray et al., Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes, Proceedings of the National Academy of Sciences of the United States of America, vol.111, issue.36, pp.13127-13159, 2014.