Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
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Dissection of epistasis in oligogenic Bardet-Biedl syndromeRetinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomographyBardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 proteinCharacterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeComparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneBardet-Biedl SyndromeTyro3 Modulates Mertk-Associated Retinal DegenerationConserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary SignalingThe nonmotile ciliopathies.Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementFirst implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeLoss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouseThe primary cilium as a complex signaling centerGenetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.The background puzzle: how identical mutations in the same gene lead to different disease symptoms.Nephronophthisis: disease mechanisms of a ciliopathy.Saturation of the human phenomeThe NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndromeAntenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterningAlpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina.LOVD v.2.0: the next generation in gene variant databases.Modifier genes and the plasticity of genetic networks in mice.Germline mutations in MAP3K6 are associated with familial gastric cancerAPOL1 null alleles from a rural village in India do not correlate with glomerulosclerosis.Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.Molecular basis of the obesity associated with Bardet-Biedl syndrome.Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genesMcKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.Contrasting genetic architectures in different mouse reference populations used for studying complex traits.The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in JapanUse of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromesThe Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signalingThe ciliopathies: a transitional model into systems biology of human genetic disease.Bardet-Biedl syndrome.
P2860
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P2860
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
description
2003 nî lūn-bûn
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2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2003 թվականի ապրիլին հրատարակված գիտական հոդված
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2003年の論文
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年學術文章
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name
Genetic interaction of BBS1 mu ...... endelian Bardet-Biedl syndrome
@nl
Genetic interaction of BBS1 mu ...... ndelian Bardet-Biedl syndrome.
@ast
Genetic interaction of BBS1 mu ...... ndelian Bardet-Biedl syndrome.
@en
Genetic interaction of BBS1 mu ...... ndelian Bardet-Biedl syndrome.
@en-gb
type
label
Genetic interaction of BBS1 mu ...... endelian Bardet-Biedl syndrome
@nl
Genetic interaction of BBS1 mu ...... ndelian Bardet-Biedl syndrome.
@ast
Genetic interaction of BBS1 mu ...... ndelian Bardet-Biedl syndrome.
@en
Genetic interaction of BBS1 mu ...... ndelian Bardet-Biedl syndrome.
@en-gb
prefLabel
Genetic interaction of BBS1 mu ...... endelian Bardet-Biedl syndrome
@nl
Genetic interaction of BBS1 mu ...... ndelian Bardet-Biedl syndrome.
@ast
Genetic interaction of BBS1 mu ...... ndelian Bardet-Biedl syndrome.
@en
Genetic interaction of BBS1 mu ...... ndelian Bardet-Biedl syndrome.
@en-gb
P2093
P2860
P50
P3181
P356
P1476
Genetic interaction of BBS1 mu ...... ndelian Bardet-Biedl syndrome.
@en
P2093
Alison J Ross
Bethan E Hoskins
Brigitta Kirsten
James R Lupski
Philip L Beales
Richard Alan Lewis
Stephen J Ansley
P2860
P304
P3181
P356
10.1086/375178
P407
P577
2003-04-03T00:00:00Z