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

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

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

http://www.wikidata.org/entity/Q34348965

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Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2 Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families 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.Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)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 A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)The blind leading the obese: the molecular pathophysiology of a human obesity syndrome Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey Bardet-Biedl Syndrome Tyrosine phosphorylation of tub and its association with Src homology 2 domain-containing proteins implicate tub in intracellular signaling by insulin Homozygosity mapping at Alström syndrome to chromosome 2p Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms.Evidence for a fourth locus in Usher syndrome type I.Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes The human obesity gene map: the 2000 update.Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).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.Microsatellite marker content mapping of 12 candidate genes for obesity: assembly of seven obesity screening panels for automated genotyping.The human obesity gene map: the 2002 update.Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.Cloning and expression of a bovine adenylyl cyclase type VII specific to the retinal pigment epithelium.Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome.Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.A systematic review of genetic syndromes with obesity.Clinical and locus heterogeneity in brachydactyly type C.

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

http://www.wikidata.org/entity/Q34348965

description

1993 nî lūn-bûn

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1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1993年の論文

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1993年論文

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1993年論文

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1993年論文

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1993年論文

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1993年論文

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1993年论文

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Linkage of Bardet-Biedl syndro ...... allelic genetic heterogeneity.

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Linkage of Bardet-Biedl syndro ...... allelic genetic heterogeneity.

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Linkage of Bardet-Biedl syndro ...... allelic genetic heterogeneity.

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Linkage of Bardet-Biedl syndro ...... allelic genetic heterogeneity.

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Linkage of Bardet-Biedl syndro ...... allelic genetic heterogeneity.

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Linkage of Bardet-Biedl syndro ...... allelic genetic heterogeneity.

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Linkage of Bardet-Biedl syndro ...... allelic genetic heterogeneity.

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Linkage of Bardet-Biedl syndro ...... allelic genetic heterogeneity.

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Linkage of Bardet-Biedl syndro ...... allelic genetic heterogeneity.

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Nature Genetics

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Linkage of Bardet-Biedl syndro ...... allelic genetic heterogeneity.

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Buetow KH

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Carmi R

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Duyk GM

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Elbedour K

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Kwitek-Black AE

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Parvari R

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Sheffield VC

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Stone EM

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Yandava CN

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P2860

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

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

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

Bardet-Biedl syndrome and related disorders.

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392-396

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10.1038/NG1293-392

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