Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)
about
A complex of BBS1 and NPHP7 is required for cilia motility in zebrafishGenetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Bardet-Biedl SyndromeIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressBardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assemblyThe primary cilium: a signalling centre during vertebrate developmentAntenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mappingPitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.Molecular basis of the obesity associated with Bardet-Biedl syndrome.Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genesModeling human disease in humans: the ciliopathies.Obesity--is it a genetic disorder?Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.Multiple mutations responsible for frequent genetic diseases in isolated populations.Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeIdentification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.Olfactory cilia: linking sensory cilia function and human diseasePhenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.Cilia, adenomatous polyposis coli and associated diseases.Genetics of human Bardet-Biedl syndrome, an updates.Triallelic inheritance: a bridge between Mendelian and multifactorial traits.Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.Reporting Race and Ethnicity in Genetics Research: Do Journal Recommendations or Resources Matter?Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.Race and ethnicity in genetic research.The Human Obesity Gene Map: The 2004 UpdateTesting for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohortBBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
P2860
Q21558497-AA484413-6273-4344-B693-2925AD348E0BQ24532021-6871795B-BE6D-46DA-AD60-C36CE1AB7B95Q26744178-24A374DC-40AB-4897-8227-59536FB78050Q28394808-9403BB02-A660-437B-A2C2-6A3B597E0D0EQ28585659-BFE47697-7645-4074-8A66-177E07965A02Q29547197-B7340533-5D83-4F01-8591-CC7ABD125E1AQ33938671-ADA7938E-AE90-4DF1-BFAB-40FC17C450DBQ34473405-B7463FB7-FAE9-4D93-9643-46527414DB8FQ34545100-68C7F8FC-DA80-42D0-B1BE-D1F3C762C4BFQ35087636-F1E3D614-C1A4-4813-9B60-3C8BBF45EC7DQ35221428-59D60111-E252-4667-9996-A6BFBDE61C90Q35453921-A4AF0902-2C72-40DF-B006-1CB62876A90EQ35555011-48BC1591-A841-4D2A-9131-921DB0527AB0Q35779577-684F7310-3B15-497F-BD85-39E80C27762FQ36703593-4CC3F774-CC9A-4980-A7F7-864617AC33F2Q36740244-B8ED6A50-FD8D-4BED-B724-B386802034B3Q36802848-7D0CAB43-D575-4117-942E-0194376C1836Q37111349-0AD4C0CA-B986-4ECD-809B-2FC86F6E83E3Q37193134-C1D5F02B-A718-4E46-8AA1-A0AE38ED696BQ37829931-221DEA26-4090-45F1-8350-B2066D111B4FQ37921082-5D759ACA-40AA-4C9A-B766-C73308B3F93BQ38695238-F6DECD75-A7F3-42D9-8022-9692A7942FC6Q44957240-22502C4B-36FE-4733-A703-AE37531C79EBQ45182771-607CB0B1-9A82-42AC-B78F-7B558A183F64Q45869556-3C29121F-4A09-4396-A826-F5DFB70008D2Q47787692-ECE3A105-1662-4076-9124-32F74C80780AQ49364256-FE96E261-97EA-44E4-9CBD-27094DFC3E6CQ53348076-66B73E74-0074-4694-BFBC-215CA05BA4D8Q53693804-AAE7AC33-A78A-4917-8797-FD07AE2F3E47Q57316399-6F63AC3D-ECA2-4811-A852-7EF84059B2D4Q57387354-F36310BC-3F65-46D5-9AF3-73EE031B5FAAQ58378091-1A70C3DA-2F26-4EE0-91D7-3018E23B2DD2
P2860
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Evaluation of complex inherita ...... et-Biedl syndrome locus (BBS1)
@ast
Evaluation of complex inherita ...... et-Biedl syndrome locus (BBS1)
@en
Evaluation of complex inherita ...... et-Biedl syndrome locus (BBS1)
@nl
type
label
Evaluation of complex inherita ...... et-Biedl syndrome locus (BBS1)
@ast
Evaluation of complex inherita ...... et-Biedl syndrome locus (BBS1)
@en
Evaluation of complex inherita ...... et-Biedl syndrome locus (BBS1)
@nl
prefLabel
Evaluation of complex inherita ...... et-Biedl syndrome locus (BBS1)
@ast
Evaluation of complex inherita ...... et-Biedl syndrome locus (BBS1)
@en
Evaluation of complex inherita ...... et-Biedl syndrome locus (BBS1)
@nl
P2093
P2860
P50
P356
P1476
Evaluation of complex inherita ...... et-Biedl syndrome locus (BBS1)
@en
P2093
Alan F Wright
Alberto S Cornier
Anne B Fulton
Darryl Y Nishimura
Gerald F Cox
Gretel Beck
Güven Lüleci
Heidi L Haines
Kevin Bugge
Raoul C M Hennekam
P2860
P304
P356
10.1086/346172
P407
P50
P577
2003-02-01T00:00:00Z