BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
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Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSomeBardet-Biedl SyndromeA novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndromeGenetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathwaysVitritis in pediatric genetic retinal disordersGenetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencingWhole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl SyndromeVisual acuity and retinal function in patients with Bardet-Biedl syndrome.A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromesThe ciliopathies: a transitional model into systems biology of human genetic disease.Bardet-Biedl syndrome.Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.Systemic diseases associated with retinal dystrophies.Genetics of human Bardet-Biedl syndrome, an updates.A role for primary cilia in aortic valve development and disease.Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death.Specific retinal phenotype in early IQCB1-related disease.Etiologies of uterine malformations.
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P2860
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
description
im März 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 22 March 2011
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2011
@uk
name
BBS genotype-phenotype assessm ...... sion of the disease definition
@en
BBS genotype-phenotype assessm ...... sion of the disease definition
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type
label
BBS genotype-phenotype assessm ...... sion of the disease definition
@en
BBS genotype-phenotype assessm ...... sion of the disease definition
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prefLabel
BBS genotype-phenotype assessm ...... sion of the disease definition
@en
BBS genotype-phenotype assessm ...... sion of the disease definition
@nl
P2093
P2860
P50
P356
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P1476
BBS genotype-phenotype assessm ...... sion of the disease definition
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P2093
Catherine Deveault
Christina Gerth
David Chitayat
Debra Kennedy
Elias I Traboulsi
Francis L Munier
Gail Billingsley
Gerald A Fishman
Grant A Mitchell
Jacque L Duncan
P2860
P304
P356
10.1002/HUMU.21480
P577
2011-03-22T00:00:00Z