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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

http://www.wikidata.org/entity/Q24517923

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Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform The ovo gene required for cuticle formation and oogenesis in flies is involved in hair formation and spermatogenesis in mice Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.The human obesity gene map: the 1998 update.Genetics of the female reproductive ducts.Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes Control sites of ribosomal S6 kinase B and persistent activation through tumor necrosis factor.Recent advances in the genetics of severe childhood obesity.Discriminating power of localized three-dimensional facial morphology.Normal and abnormal development of the urogenital tract.Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy.Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.Genetics of childhood obesity Cohen syndrome - a rare genetic cause of hypotonia in children.Prevalence of Bardet-Biedl syndrome in Tunisia.Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.Visual acuity and retinal function in patients with Bardet-Biedl syndrome.Genetic basis of Joubert syndrome and related disorders of cerebellar development.Bardet-Biedl syndrome.Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome Current insights into renal ciliopathies: what can genetics teach us?Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Functional modelling of a novel mutation in BBS5.

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

http://www.wikidata.org/entity/Q24517923

description

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

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P2860

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs.

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome.

The spectrum of renal disease in Laurence-Moon-Biedl syndrome.

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