A. W. Allen, . Jr, J. B. Moon, K. R. Hovland, and D. S. Minckler, Ocular Findings in Thoracic-Pelvic-Phalangeal Dystrophy, Archives of Ophthalmology, vol.97, issue.3, pp.489-492, 1979.
DOI : 10.1001/archopht.1979.01020010239010

L. A. Bard, P. A. Bard, G. W. Owens, and B. Hall, Retinal Involvement in Thoracic-Pelvic-Phalangeal Dystrophy, Archives of Ophthalmology, vol.96, issue.2, pp.278-281, 1978.
DOI : 10.1001/archopht.1978.03910050146008

P. L. Beales, E. Bland, J. L. Tobin, C. Bacchelli, B. Tuysuz et al., IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy, Nature Genetics, vol.287, issue.6, pp.727-729, 2007.
DOI : 10.1242/dev.02732

C. Bredrup, S. Saunier, M. Oud, T. Fiskerstrand, A. Hoischen et al., Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19, The American Journal of Human Genetics, vol.89, issue.5, pp.634-677, 2011.
DOI : 10.1016/j.ajhg.2011.10.001

N. Dagoneau, M. Goulet, D. Genevieve, Y. Sznajer, J. Martinovic et al., DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III, The American Journal of Human Genetics, vol.84, issue.5, pp.706-711, 2009.
DOI : 10.1016/j.ajhg.2009.04.016

URL : http://doi.org/10.1016/j.ajhg.2009.04.016

J. De-vries, J. L. Yntema, C. E. Van-die, N. Crama, E. A. Cornelissen et al., Jeune syndrome: description of 13 cases and a proposal for follow-up protocol, European Journal of Pediatrics, vol.12, issue.4, pp.77-88, 2010.
DOI : 10.1007/s00431-009-0991-3

N. C. Ho, C. A. Francomano, and M. Van-allen, Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder, American Journal of Medical Genetics, vol.3, issue.4, pp.310-314, 2000.
DOI : 10.1002/(SICI)1096-8628(20000214)90:4<310::AID-AJMG9>3.0.CO;2-N

M. Jeune, C. Beraud, and R. Carron, Asphyxiating thoracic dystrophy with familial characteristics], Arch Fr Pediatr, vol.12, pp.886-891, 1955.

K. M. Keppler-noreuil, M. P. Adam, J. Welch, A. Muilenburg, and M. C. Willing, Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy), American Journal of Medical Genetics Part A, vol.23, issue.5, pp.1021-1032, 2011.
DOI : 10.1002/ajmg.a.33892

P. Labrune, M. Fabre, P. Trioche, B. Estournet-mathiaud, M. C. Grangeponte et al., Jeune syndrome and liver disease: Report of three cases treated with ursodeoxycholic acid, American Journal of Medical Genetics, vol.105, issue.4, pp.324-328, 1999.
DOI : 10.1002/(SICI)1096-8628(19991203)87:4<324::AID-AJMG8>3.0.CO;2-U

A. Merrill, B. Merriman, C. Farrington-rock, N. Camacho, E. Sebald et al., Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome, The American Journal of Human Genetics, vol.84, issue.4, pp.542-591, 2009.
DOI : 10.1016/j.ajhg.2009.03.015

E. Ring, G. Zobel, M. Ratschek, M. Trop, and H. Wendler, Retrospective diagnosis of Jeune's syndrome in two patients with chronic renal failure, Child Nephrol Urol, vol.10, pp.88-91, 1990.

V. Bibliographie-absalon, S. Blisnick, T. Bonhivers, M. Kohl, L. Cayet et al., Flagellum elongation is required for correct structure, orientation and function of the flagellar pocket in Trypanosoma brucei, Journal of Cell Science, vol.121, issue.22, pp.3704-3716, 2008.
DOI : 10.1242/jcs.035626

L. Abu-safieh, S. Al-anazi, L. Al-abdi, M. Hashem, H. Alkuraya et al., In search of triallelism in Bardet???Biedl syndrome, European Journal of Human Genetics, vol.15, issue.4, pp.420-427, 2012.
DOI : 10.1007/s00439-010-0902-8

B. A. Afzelius, A human syndrome caused by immotile cilia, Science, vol.193, issue.4250, pp.317-319, 1976.
DOI : 10.1126/science.1084576

A. W. Allen, . Jr, J. B. Moon, K. R. Hovland, and D. S. Minckler, Ocular Findings in Thoracic-Pelvic-Phalangeal Dystrophy, Archives of Ophthalmology, vol.97, issue.3, pp.489-492, 1979.
DOI : 10.1001/archopht.1979.01020010239010

M. J. Amar, R. Sutphen, and B. G. Kousseff, Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome), American Journal of Medical Genetics, vol.26, issue.4, pp.349-352, 1997.
DOI : 10.1002/(SICI)1096-8628(19970627)70:4<349::AID-AJMG3>3.0.CO;2-O

H. H. Arts, E. M. Bongers, D. A. Mans, S. E. Van-beersum, M. M. Oud et al., C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome, Journal of Medical Genetics, vol.48, issue.6, pp.390-395, 2011.
DOI : 10.1136/jmg.2011.088864

URL : https://hal.archives-ouvertes.fr/hal-00613258

A. Ashe, N. C. Butterfield, L. Town, A. D. Courtney, A. N. Cooper et al., Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies, Human Molecular Genetics, vol.21, issue.8, pp.1808-1823, 2012.
DOI : 10.1093/hmg/ddr613

A. A. Aughsteen, The Ultrastructure of Primary Cilia in the Endocrine and Excretory Duct Cells of the Pancreas of Mice and Rats, European Journal of Morphology, vol.39, issue.5, pp.277-283, 2001.
DOI : 10.1076/ejom.39.5.277.7380

C. A. Bacino, S. U. Dhar, N. Brunetti-pierri, B. Lee, P. E. Bonnen et al., WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype The ciliopathies: an emerging class of human genetic disorders, Am J Med Genet A Annu Rev Genomics Hum Genet, vol.7, pp.125-148, 2006.

M. A. Baker, L. Hetherington, G. Reeves, J. Muller, and R. J. Aitken, The rat sperm proteome characterizedvia IPG strip prefractionation and LC-MS/MS identification, PROTEOMICS, vol.432, issue.11, pp.2312-2321, 2008.
DOI : 10.1002/pmic.200700876

L. A. Bard, P. A. Bard, G. W. Owens, and B. D. Hall, Retinal Involvement in Thoracic-Pelvic-Phalangeal Dystrophy, Archives of Ophthalmology, vol.96, issue.2, pp.278-281, 1978.
DOI : 10.1001/archopht.1978.03910050146008

G. Baujat, L. Merrer, M. Beales, P. L. Bland, E. Tobin et al., Ellis-van Creveld syndrome IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy, Orphanet J Rare Dis Nat Genet, vol.2, issue.39, pp.727-729, 2007.

F. A. Beemer, L. O. Langer, . Jr, J. M. Klep-de-pater, A. M. Hemmes et al., A new short rib syndrome: Report of two cases, American Journal of Medical Genetics, vol.7, issue.1, pp.3-115, 1983.
DOI : 10.1002/ajmg.1320140116

B. W. Bisgrove and H. J. Yost, The roles of cilia in developmental disorders and disease, Development, vol.133, issue.21, pp.4131-4143, 2006.
DOI : 10.1242/dev.02595

O. E. Blacque, E. A. Perens, K. A. Boroevich, P. N. Inglis, C. Li et al., Functional Genomics of the Cilium, a Sensory Organelle, Current Biology, vol.15, issue.10, pp.935-941, 2005.
DOI : 10.1016/j.cub.2005.04.059

H. J. Blair, S. Tompson, Y. N. Liu, J. Campbell, K. Macarthur et al., Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19, BMC Biol Am J Hum Genet, vol.9, issue.89, pp.634-643, 2011.

R. S. Cathcart, W. , and W. C. Jr, CILIARY MOVEMENT IN THE RAT CEREBRAL VENTRICLES, Journal of Neuropathology and Experimental Neurology, vol.23, issue.4, pp.609-618, 1964.
DOI : 10.1097/00005072-196410000-00002

D. P. Cavalcanti, C. Huber, K. H. Sang, G. Baujat, F. Collins et al., Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum, Journal of Medical Genetics, vol.48, issue.2, pp.88-92, 2011.
DOI : 10.1136/jmg.2009.069468

C. P. Chen, Y. N. Su, C. Y. Hsu, S. R. Chern, F. J. Tsai et al., Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling, Taiwanese Journal of Obstetrics and Gynecology, vol.49, issue.4, pp.481-486, 2010.
DOI : 10.1016/S1028-4559(10)60101-5

URL : http://doi.org/10.1016/s1028-4559(10)60101-5

S. T. Christensen, L. B. Pedersen, L. Schneider, and P. Satir, Sensory Cilia and Integration of Signal Transduction in Human Health and Disease, Traffic, vol.20, issue.2, pp.97-109, 2007.
DOI : 10.1111/j.1600-0854.2006.00516.x

D. Cideciyan, M. M. Rodriguez, R. L. Haun, G. E. Abdenour, and J. H. Bruce, New findings in short rib syndrome, American Journal of Medical Genetics, vol.39, issue.3, pp.255-259, 1993.
DOI : 10.1002/ajmg.1320460302

D. G. Cole, The Intraflagellar Transport Machinery of Chlamydomonas reinhardtii, Traffic, vol.116, issue.7, pp.435-442, 2003.
DOI : 10.1034/j.1600-0854.2003.t01-1-00103.x

D. G. Cole, W. J. Snell, K. C. Corbit, P. Aanstad, V. Singla et al., SnapShot: Intraflagellar transport Vertebrate Smoothened functions at the primary cilium, Cell Nature, vol.137, issue.437, pp.784-784, 2005.

N. Dagoneau, M. Goulet, D. Genevieve, Y. Sznajer, J. Martinovic et al., DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III, The American Journal of Human Genetics, vol.84, issue.5, pp.706-711, 2009.
DOI : 10.1016/j.ajhg.2009.04.016

URL : http://doi.org/10.1016/j.ajhg.2009.04.016

E. E. Davis, Q. Zhang, Q. Liu, B. H. Diplas, L. M. Davey et al., TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum, Nature Genetics, vol.36, issue.3, pp.189-196, 2011.
DOI : 10.1073/pnas.0610155104

J. De-vries, J. L. Yntema, C. E. Van-die, N. Crama, E. A. Cornelissen et al., Jeune syndrome: description of 13 cases and a proposal for follow-up protocol, European Journal of Pediatrics, vol.12, issue.4, pp.77-88, 2010.
DOI : 10.1007/s00431-009-0991-3

E. Hokayem, J. Huber, C. Couve, A. Aziza, J. Baujat et al., are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases, Journal of Medical Genetics, vol.49, issue.4, pp.227-233, 2012.
DOI : 10.1136/jmedgenet-2011-100717

N. H. Elcioglu and C. M. Hall, Diagnostic dilemmas in the short rib-polydactyly syndrome group, American Journal of Medical Genetics, vol.31, issue.11, 2002.
DOI : 10.1002/ajmg.10562

R. W. Ellis and S. Van-creveld, A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases, Archives of Disease in Childhood, vol.15, issue.82, pp.65-84, 1940.
DOI : 10.1136/adc.15.82.65

M. Galdzicka, S. Patnala, M. G. Hirshman, J. F. Cai, H. Nitowsky et al., A new gene, EVC2, is mutated in Ellis???van Creveld syndrome, Molecular Genetics and Metabolism, vol.77, issue.4, pp.291-295, 2002.
DOI : 10.1016/S1096-7192(02)00178-6

F. R. Garcia-gonzalo, K. C. Corbit, M. S. Sirerol-piquer, G. Ramaswami, E. A. Otto et al., A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition, Nature Genetics, vol.43, issue.8, pp.776-784, 2011.
DOI : 10.1038/ng.662

C. Gilissen, H. H. Arts, A. Hoischen, L. Spruijt, D. A. Mans et al., Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome, The American Journal of Human Genetics, vol.87, issue.3, pp.418-423, 2010.
DOI : 10.1016/j.ajhg.2010.08.004

A. Gnirke, A. Melnikov, J. Maguire, P. Rogov, E. M. Leproust et al., Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing, Nature Biotechnology, vol.13, issue.2, pp.182-189, 2009.
DOI : 10.1038/nbt.1523

S. C. Goetz, A. , and K. V. , The primary cilium: a signalling centre during vertebrate development, Nature Reviews Genetics, vol.18, issue.5, pp.331-344, 2010.
DOI : 10.1038/nrg2774

M. Handel, S. Schulz, A. Stanarius, M. Schreff, M. Erdtmann-vourliotis et al., Selective targeting of somatostatin receptor 3 to neuronal cilia, Neuroscience, vol.89, issue.3, pp.909-926, 1999.
DOI : 10.1016/S0306-4522(98)00354-6

C. J. Haycraft, B. Banizs, Y. Aydin-son, Q. Zhang, E. J. Michaud et al., Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function Intraflagellar transport is essential for endochondral bone formation, PLoS Genet Development, vol.1, issue.134, pp.307-316, 2005.

R. C. Hennekam, Short rib syndrome???Beemer type in sibs, American Journal of Medical Genetics, vol.3, issue.2, pp.230-233, 1991.
DOI : 10.1002/ajmg.1320400221

L. K. Hilton, M. C. White, and L. M. Quarmby, The NIMA-related kinase NEK1 cycles through the nucleus, Biochemical and Biophysical Research Communications, vol.389, issue.1, pp.52-56, 2009.
DOI : 10.1016/j.bbrc.2009.08.086

N. C. Ho, C. A. Francomano, and M. Van-allen, Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder, American Journal of Medical Genetics, vol.3, issue.4, pp.310-314, 2000.
DOI : 10.1002/(SICI)1096-8628(20000214)90:4<310::AID-AJMG9>3.0.CO;2-N

D. Huangfu, A. , and K. V. , Cilia and Hedgehog responsiveness in the mouse, Proceedings of the National Academy of Sciences, vol.102, issue.32, pp.11325-11330, 2005.
DOI : 10.1073/pnas.0505328102

D. Huangfu, A. Liu, A. S. Rakeman, N. S. Murcia, L. Niswander et al., Hedgehog signalling in the mouse requires intraflagellar transport proteins, Nature, vol.426, issue.6962, pp.83-87, 2003.
DOI : 10.1038/nature02061

L. M. Hudak, S. Lunt, C. H. Chang, E. Winkler, H. Flammer et al., The Intraflagellar Transport Protein Ift80 Is Essential for Photoreceptor Survival in a Zebrafish Model of Jeune Asphyxiating Thoracic Dystrophy, Investigative Ophthalmology & Visual Science, vol.51, issue.7, pp.3792-3799, 2010.
DOI : 10.1167/iovs.09-4312

C. C. Hui, D. Slusarski, K. A. Platt, R. Holmgren, and A. L. Joyner, Expression of Three Mouse Homologs of the Drosophila Segment Polarity Gene cubitus interruptus, Gli, Gli-2, and Gli-3, in Ectoderm- and Mesoderm-Derived Tissues Suggests Multiple Roles during Postimplantation Development, Developmental Biology, vol.162, issue.2, pp.402-413, 1994.
DOI : 10.1006/dbio.1994.1097

C. Iomini, L. Li, J. M. Esparza, and S. K. Dutcher, Retrograde Intraflagellar Transport Mutants Identify Complex A Proteins With Multiple Genetic Interactions in Chlamydomonas reinhardtii, Genetics, vol.183, issue.3, pp.885-896, 2009.
DOI : 10.1534/genetics.109.101915

H. Ishikawa, M. , and W. F. , Ciliogenesis: building the cell's antenna, Nature Reviews Molecular Cell Biology, vol.180, issue.4, pp.222-234, 2011.
DOI : 10.1038/nrm3085

P. M. Janaswami, E. H. Birkenmeier, S. A. Cook, L. B. Rowe, R. T. Bronson et al., Identification and Genetic Mapping of a New Polycystic Kidney Disease on Mouse Chromosome 8, Genomics, vol.40, issue.1, pp.101-107, 1997.
DOI : 10.1006/geno.1996.4567

. Ultrastructural, tomographic and confocal imaging of the chondrocyte primary cilium in situ, Cell Biol Int, vol.28, pp.101-110

M. Jeune, C. Beraud, and R. Carron, [Asphyxiating thoracic dystrophy with familial characteristics], Arch Fr Pediatr, vol.12, pp.886-891, 1955.

S. J. Karp, E. Schipani, B. St-jacques, J. Hunzelman, H. Kronenberg et al., Indian hedgehog coordinates endochondral bone growth and morphogenesis via parathyroid hormone relatedprotein-dependent and -independent pathways, Development, vol.127, pp.543-548, 2000.

K. M. Keppler-noreuil, M. P. Adam, J. Welch, A. Muilenburg, and M. C. Willing, Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy), American Journal of Medical Genetics Part A, vol.23, issue.5, pp.1021-1032, 2011.
DOI : 10.1002/ajmg.a.33892

A. E. Konstantinidou, H. Fryssira, S. Sifakis, C. Karadimas, P. Kaminopetros et al., Cranioectodermal dysplasia: A probable ciliopathy, American Journal of Medical Genetics Part A, vol.140, issue.10, pp.2206-2211, 2009.
DOI : 10.1002/ajmg.a.33013

K. G. Kozminski, P. L. Beech, and J. L. Rosenbaum, The Chlamydomonas kinesin-like protein FLA10 is involved in motility associated with the flagellar membrane, The Journal of Cell Biology, vol.131, issue.6, pp.1517-1527, 1995.
DOI : 10.1083/jcb.131.6.1517

P. Labrune, M. Fabre, P. Trioche, B. Estournet-mathiaud, M. C. Grangeponte et al., Jeune syndrome and liver disease: Report of three cases treated with ursodeoxycholic acid, American Journal of Medical Genetics, vol.105, issue.4, pp.324-328, 1999.
DOI : 10.1002/(SICI)1096-8628(19991203)87:4<324::AID-AJMG8>3.0.CO;2-U

E. S. Lander and D. Botstein, Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children, Science, vol.236, issue.4808, pp.1567-1570, 1987.
DOI : 10.1126/science.2884728

C. C. Leitch, N. A. Zaghloul, E. E. Davis, C. Stoetzel, A. Diaz-font et al., Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome, Nature Genetics, vol.25, issue.4, pp.443-448, 2008.
DOI : 10.1038/ng.97

URL : https://hal.archives-ouvertes.fr/pasteur-00604849

L. S. Levin, J. C. Perrin, L. Ose, J. P. Dorst, J. D. Miller et al., A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: Cranioectodermal dysplasia, The Journal of Pediatrics, vol.90, issue.1, pp.55-61, 1977.
DOI : 10.1016/S0022-3476(77)80764-6

A. Liu, B. Wang, and L. A. Niswander, Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors, Development, vol.132, issue.13, pp.3103-3111, 2005.
DOI : 10.1242/dev.01894

D. Locker, E. Berka, A. Jokovic, and B. Tompson, Does self-weighting of items enhance the performance of an oral health-related quality of life questionnaire?, Community Dentistry and Oral Epidemiology, vol.134, issue.1, pp.35-43, 2007.
DOI : 10.1016/S0002-9416(85)90217-9

F. Mainzer, R. M. Saldino, M. B. Ozonoff, and H. Minagi, Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities, The American Journal of Medicine, vol.49, issue.4, pp.556-562, 1970.
DOI : 10.1016/S0002-9343(70)80051-1

F. Majewski, R. A. Pfeiffer, W. Lenz, R. Muller, G. Feil et al., Polysyndactyly, short limbs, and genital malformations ?A new syndrome?, Zeitschrift f???r Kinderheilkunde, vol.7, issue.2, pp.118-138, 1971.
DOI : 10.1007/BF00446428

L. Mandl and R. Megele, Primary cilia in normal human neocortical neurons, Z Mikrosk Anat Forsch, vol.103, pp.425-430, 1989.

E. Mathe, M. Olivier, S. Kato, C. Ishioka, P. Hainaut et al., Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods, Nucleic Acids Research, vol.34, issue.5, pp.1317-1325, 2006.
DOI : 10.1093/nar/gkj518

S. R. May, A. M. Ashique, M. Karlen, B. Wang, Y. Shen et al., Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli, Developmental Biology, vol.287, issue.2, pp.378-389, 2005.
DOI : 10.1016/j.ydbio.2005.08.050

I. Meizner and Y. Barnhard, Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report, Prenatal Diagnosis, vol.114, issue.7, pp.665-668, 1995.
DOI : 10.1002/pd.1970150713

A. E. Merrill, B. Merriman, C. Farrington-rock, N. Camacho, E. T. Sebald et al., Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome, The American Journal of Human Genetics, vol.84, issue.4, pp.542-549, 2009.
DOI : 10.1016/j.ajhg.2009.03.015

P. Mill, P. J. Lockhart, E. Fitzpatrick, H. S. Mountford, E. A. Hall et al., Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis, The American Journal of Human Genetics, vol.88, issue.4, pp.508-515, 2011.
DOI : 10.1016/j.ajhg.2011.03.015

P. Naumoff, L. W. Young, J. Mazer, and A. J. Amortegui, Short Rib-Polydactyly Syndrome Type 3, Radiology, vol.122, issue.2, pp.443-447, 1977.
DOI : 10.1148/122.2.443

F. Oberklaid, D. M. Danks, V. Mayne, and P. Campbell, Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients., Archives of Disease in Childhood, vol.52, issue.10, pp.758-765, 1977.
DOI : 10.1136/adc.52.10.758

P. J. Ocbina, J. T. Eggenschwiler, I. Moskowitz, A. , and K. V. , Complex interactions between genes controlling trafficking in primary cilia, Nature Genetics, vol.124, issue.6, pp.547-553, 2011.
DOI : 10.1038/79916

J. Pan and W. Snell, The Primary Cilium: Keeper of the Key to Cell Division, Cell, vol.129, issue.7, pp.1255-1257, 2007.
DOI : 10.1016/j.cell.2007.06.018

I. Perrault, S. Saunier, S. Hanein, E. Filhol, A. A. Bizet et al., Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations, The American Journal of Human Genetics, vol.90, issue.5, pp.864-870, 2012.
DOI : 10.1016/j.ajhg.2012.03.006

URL : https://hal.archives-ouvertes.fr/inserm-00752958

G. Piperno, E. Siuda, S. Henderson, M. Segil, H. Vaananen et al., Distinct Mutants of Retrograde Intraflagellar Transport (IFT) Share Similar Morphological and Molecular Defects, The Journal of Cell Biology, vol.47, issue.6, pp.1591-1601, 1998.
DOI : 10.1083/jcb.126.1.175

C. A. Poole, M. H. Flint, and B. W. Beaumont, Analysis of the morphology and function of primary cilia in connective tissues:A cellular cybernetic probe?, Cell Motility, vol.52, issue.3, pp.175-193, 1985.
DOI : 10.1002/cm.970050302

C. A. Poole, C. G. Jensen, J. A. Snyder, C. G. Gray, V. L. Hermanutz et al., CONFOCAL ANALYSIS OF PRIMARY CILIA STRUCTURE AND COLOCALIZATION WITH THE GOLGI APPARATUS IN CHONDROCYTES AND AORTIC SMOOTH MUSCLE CELLS, Cell Biology International, vol.21, issue.8, pp.483-494, 1997.
DOI : 10.1006/cbir.1997.0177

C. A. Poole, Z. J. Zhang, R. , and J. M. , The differential distribution of acetylated and detyrosinated alpha-tubulin in the microtubular cytoskeleton and primary cilia of hyaline cartilage chondrocytes, Journal of Anatomy, vol.199, issue.4, pp.393-405, 2001.
DOI : 10.1046/j.1469-7580.2001.19940393.x

A. Putoux, S. Thomas, K. L. Coene, E. E. Davis, Y. Alanay et al., KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes, Nature Genetics, vol.106, issue.6, pp.601-606, 2011.
DOI : 10.1101/gad.1546307

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674836

J. Qin, Y. Lin, R. X. Norman, H. W. Ko, and J. T. Eggenschwiler, Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components, Proceedings of the National Academy of Sciences, vol.108, issue.4, pp.1456-1461, 2011.
DOI : 10.1073/pnas.1011410108

J. F. Reiter and W. C. Skarnes, Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition, Genes & Development, vol.20, issue.1, pp.22-27, 2006.
DOI : 10.1101/gad.1363606

E. Ring, G. Zobel, M. Ratschek, M. Trop, and H. Wendler, Retrospective diagnosis of Jeune's syndrome in two patients with chronic renal failure, Child Nephrol Urol, vol.10, pp.88-91, 1990.

P. N. Robinson, P. Krawitz, M. , and S. , Strategies for exome and genome sequence data analysis in disease-gene discovery projects, Clinical Genetics, vol.83, issue.8, pp.127-132, 2011.
DOI : 10.1111/j.1399-0004.2011.01713.x

A. J. Ross, L. A. Dailey, L. E. Brighton, and R. B. Devlin, Transcriptional Profiling of Mucociliary Differentiation in Human Airway Epithelial Cells, American Journal of Respiratory Cell and Molecular Biology, vol.37, issue.2, pp.169-185, 2007.
DOI : 10.1165/rcmb.2006-0466OC

A. J. Ross, H. May-simera, E. R. Eichers, M. Kai, J. Hill et al., Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates, Nature Genetics, vol.121, issue.10, pp.1135-1140, 2005.
DOI : 10.1038/77068

V. L. Ruiz-perez, H. J. Blair, M. E. Rodriguez-andres, M. J. Blanco, A. Wilson et al., Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia, Development, vol.134, issue.16, pp.2903-2912, 2007.
DOI : 10.1242/dev.007542

V. L. Ruiz-perez, S. E. Ide, T. M. Strom, B. Lorenz, D. Wilson et al., Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis, Nature Genetics, vol.14, issue.3, pp.283-286, 2000.
DOI : 10.1016/S0925-4773(99)00123-9

R. M. Saldino and C. D. Noonan, SEVERE THORACIC DYSTROPHY WITH STRIKING MICROMELIA, ABNORMAL OSSEOUS DEVELOPMENT, INCLUDING THE SPINE, AND MULTIPLE VISCERAL ANOMALIES, American Journal of Roentgenology, vol.114, issue.2, pp.257-263, 1972.
DOI : 10.2214/ajr.114.2.257

S. J. Sasindran, S. Saikolappan, and S. Dhandayuthapani, Methionine sulfoxide reductases and virulence of bacterial pathogens, Future Microbiology, vol.2, issue.6, pp.619-630, 2007.
DOI : 10.2217/17460913.2.6.619

P. Satir, Landmarks in cilia research from leeuwenhoek to US, Cell Motility and the Cytoskeleton, vol.63, issue.2, pp.90-94, 1995.
DOI : 10.1002/cm.970320203

P. Satir and S. T. Christensen, Overview of Structure and Function of Mammalian Cilia, Annual Review of Physiology, vol.69, issue.1, pp.377-400, 2007.
DOI : 10.1146/annurev.physiol.69.040705.141236

J. M. Scholey, A. , and K. V. , Intraflagellar Transport and Cilium-Based Signaling, Cell, vol.125, issue.3, pp.439-442, 2006.
DOI : 10.1016/j.cell.2006.04.013

URL : http://doi.org/10.1016/j.cell.2006.04.013

J. A. Sensenbrenner, J. P. Dorst, and R. P. Owens, New syndrome of skeletal, dental and hair anomalies, Birth Defects Orig Artic Ser, vol.11, pp.372-379, 1975.

O. Shalom, N. Shalva, Y. Altschuler, and B. Motro, The mammalian Nek1 kinase is involved in primary cilium formation, FEBS Letters, vol.17, issue.10, pp.1465-1470, 2008.
DOI : 10.1016/j.febslet.2008.03.036

M. C. Silengo, S. Cavallaro, and P. Franceschini, Recessive spondylocostal dysostosis: Two new cases, Clinical Genetics, vol.117, issue.4, pp.289-294, 1978.
DOI : 10.1111/j.1399-0004.1978.tb01183.x

M. Simons, J. Gloy, A. Ganner, A. Bullerkotte, M. Bashkurov et al., Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways, Nature Genetics, vol.140, issue.5, pp.537-543, 2005.
DOI : 10.1091/mbc.E02-04-0195

B. St-jacques, M. Hammerschmidt, and A. P. Mcmahon, Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation, Genes & Development, vol.13, issue.16, pp.2072-2086, 1999.
DOI : 10.1101/gad.13.16.2072

R. W. Stottmann, P. V. Tran, A. Turbe-doan, and D. R. Beier, Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain, Developmental Biology, vol.335, issue.1, pp.166-178, 2009.
DOI : 10.1016/j.ydbio.2009.08.023

J. D. Terwilliger and J. Ott, A novel polylocus method for linkage analysis using the lod-score or affected sib-pair method, Genetic Epidemiology, vol.13, issue.413, pp.477-482, 1993.
DOI : 10.1002/gepi.1370100625

S. Thomas, M. Legendre, S. Saunier, B. Bessieres, C. Alby et al., TCTN3 Mutations Cause Mohr-Majewski Syndrome, The American Journal of Human Genetics, vol.91, issue.2, pp.372-378, 2012.
DOI : 10.1016/j.ajhg.2012.06.017

URL : http://doi.org/10.1016/j.ajhg.2012.06.017

P. J. Tienari, J. D. Terwilliger, J. Ott, J. Palo, and L. Peltonen, Two-Locus Linkage Analysis in Multiple Sclerosis (MS), Genomics, vol.19, issue.2, pp.320-325, 1994.
DOI : 10.1006/geno.1994.1064

K. Tobe, T. Tsuchiya, T. Itoshima, H. Nagashima, and T. Kobayashi, Electron Microscopy of Fat-Storing Cells in Liver Diseases with Special Reference to Cilia and Cytoplasmic Cholesterol Crystals, Archives of Histology and Cytology, vol.48, issue.4, pp.435-441, 1985.
DOI : 10.1679/aohc.48.435

S. W. Tompson, V. L. Ruiz-perez, H. J. Blair, S. Barton, V. Navarro et al., Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis???van Creveld syndrome patients, Human Genetics, vol.119, issue.5, pp.663-670, 2007.
DOI : 10.1007/s00439-006-0237-7

P. V. Tran, C. J. Haycraft, T. Y. Besschetnova, A. Turbe-doan, R. W. Stottmann et al., THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia, Nature Genetics, vol.82, issue.4, pp.403-410, 2008.
DOI : 10.1038/ng.105

B. Tuysuz, S. Baris, F. Aksoy, R. Madazli, S. Ungur et al., Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients, Am J Med Genet A, vol.149, pp.1727-1733, 2009.

P. Upadhya, E. H. Birkenmeier, C. S. Birkenmeier, and J. E. Barker, Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice, Proceedings of the National Academy of Sciences, vol.97, issue.1, 2000.
DOI : 10.1073/pnas.97.1.217

I. R. Veland, A. Awan, L. B. Pedersen, B. K. Yoder, and S. T. Christensen, Primary Cilia and Signaling Pathways in Mammalian Development, Health and Disease, Nephron Physiology, vol.111, issue.3, pp.39-53, 2009.
DOI : 10.1159/000208212

C. Vogler, S. Homan, A. Pung, C. Thorpe, J. Barker et al., Clinical and pathologic findings in two new allelic murine models of polycystic kidney disease, J Am Soc Nephrol, vol.10, pp.2534-2539, 1999.

J. Walczak-sztulpa, J. Eggenschwiler, D. Osborn, D. A. Brown, F. Emma et al., Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene, The American Journal of Human Genetics, vol.86, issue.6, pp.949-956, 2010.
DOI : 10.1016/j.ajhg.2010.04.012

M. L. Warman, V. Cormier-daire, C. Hall, D. Krakow, R. Lachman et al., Nosology and classification of genetic skeletal disorders: 2010 revision, American Journal of Medical Genetics Part A, vol.143, issue.5, pp.943-968, 2011.
DOI : 10.1002/ajmg.a.33909

Q. Wei, L. Wang, Q. Wang, W. D. Kruger, R. L. Dunbrack et al., Testing computational prediction of missense mutation phenotypes: Functional characterization of 204 mutations of human cystathionine beta synthase, Proteins: Structure, Function, and Bioinformatics, vol.77, issue.Web Server issu, pp.2058-2074, 2010.
DOI : 10.1002/prot.22722

K. A. Wemmer, M. , and W. F. , Flagellar Length Control in Chlamydomonas???A Paradigm for Organelle Size Regulation, Int Rev Cytol, vol.260, pp.175-212, 2007.
DOI : 10.1016/S0074-7696(06)60004-1

M. C. White and L. M. Quarmby, The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis, BMC Cell Biology, vol.9, issue.1, p.29, 2008.
DOI : 10.1186/1471-2121-9-29

M. H. Wu, P. L. Kuo, L. , and S. J. , Prenatal diagnosis of recurrence of short rib-polydactyly syndrome, American Journal of Medical Genetics, vol.7, issue.3, pp.279-284, 1995.
DOI : 10.1002/ajmg.1320550307

M. Yamamoto and K. Kataoka, Electron Microscopic Observation of the Primary Cilium in the Pancreatic Islets, Archives of Histology and Cytology, vol.49, issue.4, pp.449-457, 1986.
DOI : 10.1679/aohc.49.449

C. Q. Yan, K. X. Qian, Q. S. Yan, X. Q. Zhang, G. P. Xue et al., Use of asymmetric somatic hybridization for transfer of the bacterial blight resistance trait from Oryza meyeriana L. to O . sativa L. ssp. japonica, Plant Cell Reports, vol.22, issue.8, pp.569-575, 2004.
DOI : 10.1007/s00299-003-0732-4

N. A. Zaghloul and N. Katsanis, Functional modules, mutational load and human genetic disease, Trends in Genetics, vol.26, issue.4, pp.168-176, 2010.
DOI : 10.1016/j.tig.2010.01.006

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3740181