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A complex of BBS1 and NPHP7 is required for cilia motility in zebrafishBardet-Biedl SyndromeHuman basal body basicsMolecular Pathways Underlying Projection Neuron Production and Migration during Cerebral Cortical DevelopmentRab and Arf proteins in genetic diseasesCilia/Ift protein and motor -related bone diseases and mouse modelsUpdate on the genetics of bardet-biedl syndromeCrystal structure of the small GTPase Arl6/BBS3 fromTrypanosoma bruceiBardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementA novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndromeIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeCiliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochleaMutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertensionGenetics of auditory mechano-electrical transduction.Isolated Congenital Anosmia and CNGA2 MutationEssential role of the chaperonin CCT in rod outer segment biogenesisA Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy.Primary cilia enhance kisspeptin receptor signaling on gonadotropin-releasing hormone neuronsSmall organelle, big responsibility: the role of centrosomes in development and disease.A case of hydrometrocolpos and polydactyly.Clinical characteristics and current therapies for inherited retinal degenerationsFunction and regulation of primary cilia and intraflagellar transport proteins in the skeletonComprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.Intravenous injections in neonatal mice.Evaluation of zebrafish kidney function using a fluorescent clearance assay.Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.Two brothers with bardet-biedl syndrome presenting with chronic renal failure.Cilia and DiseasesContrasting genetic architectures in different mouse reference populations used for studying complex traits.Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome.Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndromeA Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in miceWhole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes.SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.Fine mapping a major obesity locus (jObes1) using a Berlin Fat Mouse × B6N advanced intercross population.Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci.Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource.A compendium of human genes regulating feeding behavior and body weight, its functional characterization and identification of GWAS genes involved in brain-specific PPI networkIdentification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Bardet-Biedl syndrome.
@ast
Bardet-Biedl syndrome.
@en
type
label
Bardet-Biedl syndrome.
@ast
Bardet-Biedl syndrome.
@en
prefLabel
Bardet-Biedl syndrome.
@ast
Bardet-Biedl syndrome.
@en
P2860
P356
P1476
Bardet-Biedl syndrome.
@en
P2093
Elizabeth Forsythe
Philip L Beales
P2860
P2888
P356
10.1038/EJHG.2012.115
P577
2012-06-20T00:00:00Z
P5875
P6179
1049739027