L. Baala, Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome, The American Journal of Human Genetics, vol.81, issue.1, pp.170-179, 2007.
DOI : 10.1086/519494

H. R. Dawe, The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation, Human Molecular Genetics, vol.16, issue.2, pp.173-186, 2007.
DOI : 10.1093/hmg/ddl459

M. Delous, The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome, Nature Genetics, vol.114, issue.7, pp.875-881, 2007.
DOI : 10.1073/pnas.0505328102

M. Kyttala, MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome, Nature Genetics, vol.18, issue.2, pp.155-157, 2006.
DOI : 10.1038/ng1714

U. M. Smith, The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat, Nature Genetics, vol.294, issue.2, pp.191-196, 2006.
DOI : 10.1038/ng1713

J. L. Badano, N. Mitsuma, P. L. Beales, and N. Katsanis, The Ciliopathies: An Emerging Class of Human Genetic Disorders, Annual Review of Genomics and Human Genetics, vol.7, issue.1, pp.125-148, 2006.
DOI : 10.1146/annurev.genom.7.080505.115610

C. Stoetzel, Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome, The American Journal of Human Genetics, vol.80, issue.1, pp.1-11, 2007.
DOI : 10.1086/510256

URL : https://hal.archives-ouvertes.fr/hal-00166251

J. L. Badano, Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus, Human Molecular Genetics, vol.12, issue.14, pp.1651-1659, 2003.
DOI : 10.1093/hmg/ddg188

P. L. Beales, Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome, The American Journal of Human Genetics, vol.72, issue.5, pp.1187-1199, 2003.
DOI : 10.1086/375178

URL : https://hal.archives-ouvertes.fr/hal-00174595

N. Katsanis, Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder, Science, vol.293, issue.5538, pp.2256-2259, 2001.
DOI : 10.1126/science.1063525

C. Stoetzel, BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus, Nature Genetics, vol.439, issue.5, pp.521-524, 2006.
DOI : 10.1016/S0092-8674(04)00450-7

URL : https://hal.archives-ouvertes.fr/hal-00188154

J. L. Badano, Dissection of epistasis in oligogenic Bardet???Biedl syndrome, Nature, vol.97, issue.7074, pp.326-330, 2006.
DOI : 10.1038/nature04370

E. E. Davis, M. Brueckner, and N. Katsanis, The Emerging Complexity of the Vertebrate Cilium: New Functional Roles for an Ancient Organelle, Developmental Cell, vol.11, issue.1, pp.9-19, 2006.
DOI : 10.1016/j.devcel.2006.06.009

A. J. Ross, 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

J. M. Gerdes, Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response, Nature Genetics, vol.423, issue.11, pp.1350-1360, 2007.
DOI : 10.1038/ng.2007.12

URL : https://hal.archives-ouvertes.fr/pasteur-00604846

R. Khaddour, mutations in Meckel syndrome: a genotype-phenotype correlation, Human Mutation, vol.28, issue.5, pp.523-524, 2007.
DOI : 10.1002/humu.9489

A. Gherman, E. E. Davis, and N. Katsanis, The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia, Nature Genetics, vol.38, issue.9, pp.961-962, 2006.
DOI : 10.1074/mcp.M200037-MCP200

H. H. Arts, Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome, Nature Genetics, vol.113, issue.7, pp.882-888, 2007.
DOI : 10.1093/hmg/ddi490

J. A. Sayer, The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4, Nature Genetics, vol.316, issue.6, pp.674-681, 2006.
DOI : 10.1083/jcb.101.6.2085

J. Vierkotten, R. Dildrop, T. Peters, B. Wang, and U. Ruther, Ftm is a novel basal body protein of cilia involved in Shh signalling, Development, vol.134, issue.14, pp.2569-2577, 2007.
DOI : 10.1242/dev.003715

H. Karmous-benailly, Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome, The American Journal of Human Genetics, vol.76, issue.3, pp.493-504, 2005.
DOI : 10.1086/428679

V. Ramensky, P. Bork, and S. Sunyaev, Human non-synonymous SNPs: server and survey, Nucleic Acids Research, vol.30, issue.17, pp.3894-3900, 2002.
DOI : 10.1093/nar/gkf493

URL : http://doi.org/10.1093/nar/gkf493

P. L. Beales, N. Elcioglu, A. S. Woolf, D. Parker, and F. A. Flinter, New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey, J. Med. Genet, vol.36, pp.437-446, 1999.

L. Baala, The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome, The American Journal of Human Genetics, vol.80, issue.1, pp.186-194, 2007.
DOI : 10.1086/510499

A. I. Den-hollander, Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis, The American Journal of Human Genetics, vol.79, issue.3, pp.556-561, 2006.
DOI : 10.1086/507318

J. Helou, Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome, Journal of Medical Genetics, vol.44, issue.10, pp.657-663, 2007.
DOI : 10.1136/jmg.2007.052027

N. Katsanis, Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome, Nat. Genet, vol.26, pp.67-70, 2000.

D. L. Stone, Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome, Nature Genetics, vol.36, issue.1, pp.79-82, 2000.
DOI : 10.1038/75637