A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 - Wikidata - awgldk - TriplyDB

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

http://www.wikidata.org/entity/Q24540164

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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.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 Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance Global survey of protein expression during gonadal sex determination in mice A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.Recent advances in the genetics of severe childhood obesity.The human obesity gene map: the 2000 update.Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.The human obesity gene map: the 2001 update.Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.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.The human obesity gene map: the 2002 update.Genetics of childhood obesity Genetic control of ATGL-mediated lipolysis modulates adipose triglyceride stores in leptin-deficient mice Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Functional modelling of a novel mutation in BBS5.Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography.Renal failure due to Bardet-Biedl syndrome. A case report.A mutation in IFT43 causes non-syndromic recessive retinal degeneration.Genetics of Obesity.Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.The genetics of human obesity The Human Obesity Gene Map: The 2004 Update

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P2860

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

http://www.wikidata.org/entity/Q24540164

description

1999 nî lūn-bûn

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1999 թուականի Մարտին հրատարակուած գիտական յօդուած

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1999 թվականի մարտին հրատարակված գիտական հոդված

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1999年の論文

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1999年論文

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1999年論文

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1999年論文

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1999年論文

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1999年論文

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1999年论文

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name

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

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A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

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A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

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type

label

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

@ast

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

@en

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

@nl

prefLabel

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

@ast

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

@en

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

@nl

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A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

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P2093

Davidson WS

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Green JS

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Hefferton D

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Parfrey PS

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Penney L

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Woods MO

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Young TL

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Pathway leading to correctly folded beta-tubulin

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

Positional cloning of the gene for X-linked retinitis pigmentosa 2

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

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)

X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11

The TDT and other family-based tests for linkage disequilibrium and association

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

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