Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
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Detecting autozygosity through runs of homozygosity: a comparison of three autozygosity detection algorithmsUpdate on the genetics of bardet-biedl syndromeIdentification and functional analysis of the vision-specific BBS3 (ARL6) long isoformBardet-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 syndromeA null mutation in CABP4 causes Leber's congenital amaurosis-like phenotypeEfficient identification of novel mutations in patients with limb girdle muscular dystrophyAutozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Functional analysis of BBS3 A89V that results in non-syndromic retinal degenerationVitritis in pediatric genetic retinal disordersWhole-genome resequencing of Hanwoo (Korean cattle) and insight into regions of homozygosity.Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysmsMolecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genesAlternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis PigmentosaHomozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndromeNovel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingHomozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Functional modelling of a novel mutation in BBS5.Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Discovery of rare homozygous mutations from studies of consanguineous pedigrees.Genetics of human Bardet-Biedl syndrome, an updates.Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.In search of triallelism in Bardet-Biedl syndromeGenomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.Molecular characterization of Joubert syndrome in Saudi Arabia.Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17.A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
P2860
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P2860
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Clinical and molecular charact ...... power of homozygosity mapping.
@en
Clinical and molecular charact ...... power of homozygosity mapping.
@nl
type
label
Clinical and molecular charact ...... power of homozygosity mapping.
@en
Clinical and molecular charact ...... power of homozygosity mapping.
@nl
prefLabel
Clinical and molecular charact ...... power of homozygosity mapping.
@en
Clinical and molecular charact ...... power of homozygosity mapping.
@nl
P2093
P356
P1476
Clinical and molecular charact ...... power of homozygosity mapping
@en
P2093
A Al-Rajhi
F S Alkuraya
H Alkuraya
H Shamseldin
L Abu Safieh
S A F Al Hazzaa
P304
P356
10.1136/JMG.2009.070755
P407
P577
2009-10-26T00:00:00Z