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Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeBardet-Biedl SyndromeUpdate on the genetics of bardet-biedl syndromeConserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary SignalingMouse models of ciliopathies: the state of the art.Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressIdentification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndromeExome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeScreening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.Functional modelling of a novel mutation in BBS5.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Discovery of rare homozygous mutations from studies of consanguineous pedigrees.Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl familyInterpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.Photoreceptor Cilia and Retinal Ciliopathies.Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.A systematic review of genetic syndromes with obesity.Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.Characterizing the morbid genome of ciliopathies.Understanding mutational effects in digenic diseasesGenomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.Identification of a novel MKS locus defined by TMEM107 mutation.Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.Protein interaction perturbation profiling at amino-acid resolution.Molecular characterization of Joubert syndrome in Saudi Arabia.Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B.Managing Bardet–Biedl Syndrome—Now and in the Future.C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51).
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012年の論文
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2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
In search of triallelism in Bardet-Biedl syndrome
@en
In search of triallelism in Bardet-Biedl syndrome
@nl
type
label
In search of triallelism in Bardet-Biedl syndrome
@en
In search of triallelism in Bardet-Biedl syndrome
@nl
prefLabel
In search of triallelism in Bardet-Biedl syndrome
@en
In search of triallelism in Bardet-Biedl syndrome
@nl
P2093
P2860
P356
P1476
In search of triallelism in Bardet-Biedl syndrome
@en
P2093
Ahmad Al-Salem
Amal Al-Hashem
Ameen Softah
Arif O Khan
Basim Alkuraya
Eissa Faqeih
Hisham Alkuraya
Jawahir Y Mohamed
Lama Al-Abdi
Leen Abu-Safieh
P2860
P2888
P304
P356
10.1038/EJHG.2011.205
P577
2012-02-22T00:00:00Z
P5875
P6179
1032364464