Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

[1]  S. Fisher,et al.  Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response , 2007, Nature Genetics.

[2]  R. Dildrop,et al.  Ftm is a novel basal body protein of cilia involved in Shh signalling , 2007, Development.

[3]  I. Glass,et al.  Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome , 2007, Journal of Medical Genetics.

[4]  Colin A. Johnson,et al.  Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. , 2007, American journal of human genetics.

[5]  Colin A. Johnson,et al.  The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome , 2007, Nature Genetics.

[6]  I. Glass,et al.  Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome , 2007, Nature Genetics.

[7]  Colin A. Johnson,et al.  Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation , 2007, Human mutation.

[8]  Colin A. Johnson,et al.  The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. , 2007, Human molecular genetics.

[9]  Adrian Gherman,et al.  The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia , 2006, Nature Genetics.

[10]  Nicholas Katsanis,et al.  The ciliopathies: an emerging class of human genetic disorders. , 2006, Annual review of genomics and human genetics.

[11]  T. Meitinger,et al.  Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. , 2006, American journal of human genetics.

[12]  N. Katsanis,et al.  The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle. , 2006, Developmental cell.

[13]  Yan Liu,et al.  The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 , 2006, Nature Genetics.

[14]  R. Lewis,et al.  BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus , 2006, Nature Genetics.

[15]  S. Fisher,et al.  Dissection of epistasis in oligogenic Bardet–Biedl syndrome , 2006, Nature.

[16]  L. Peltonen,et al.  MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome , 2006, Nature Genetics.

[17]  Colin A. Johnson,et al.  The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat , 2006, Nature Genetics.

[18]  J. Lupski,et al.  Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates , 2005, Nature Genetics.

[19]  A. Munnich,et al.  Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. , 2005, American journal of human genetics.

[20]  Bethan E. Hoskins,et al.  Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. , 2003, Human molecular genetics.

[21]  B. Alizadeh,et al.  Genotype-phenotype correlations , 2003 .

[22]  Bethan E. Hoskins,et al.  Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. , 2003, American journal of human genetics.

[23]  P. Bork,et al.  Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.

[24]  Bethan E. Hoskins,et al.  Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder , 2001, Science.

[25]  Richard A. Lewis,et al.  Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome , 2000, Nature Genetics.

[26]  G. Bouffard,et al.  Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome , 2000, Nature Genetics.

[27]  P. Beales,et al.  New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey , 1999, Journal of medical genetics.

[28]  Colin A. Johnson,et al.  The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. , 2007, American journal of human genetics.

[29]  F. Plewniak,et al.  Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. , 2007, American journal of human genetics.

[30]  E. Pervova.  [The results of a population survey]. , 1990, Meditsinskaia sestra.