(Q34138883)

31 July 2017

title

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome (English)

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31 July 2017

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Bardet-Biedl syndrome

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Francis S Collins

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Charles C Searby

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Kirk Mykytyn

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Samuel G Jacobson

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Edwin M Stone

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Val C Sheffield

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John R Heckenlively

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31 July 2017

Darryl Y Nishimura

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31 July 2017

Alberto S Cornier

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31 July 2017

Rivka Carmi

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31 July 2017

Richard G Weleber

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31 July 2017

Güven Lüleci

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31 July 2017

Terry Braun

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31 July 2017

Mythreyi Shastri

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31 July 2017

Hsan-jan Yen

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31 July 2017

John S Beck

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31 July 2017

Luan M Streb

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31 July 2017

Gerald F Cox

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31 July 2017

Anne B Fulton

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31 July 2017

Settara C Chandrasekharappa

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31 July 2017

language of work or name

English

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publication date

15 July 2002

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31 July 2017

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

435-438

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The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

31 July 2017

cites work

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7 January 2021

The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

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7 January 2021

Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients

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7 January 2021

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

1 reference

7 January 2021

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

1 reference

7 January 2021

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

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7 January 2021

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

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7 January 2021

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

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7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

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7 January 2021

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

1 reference

7 January 2021

The McKusick-Kaufman syndrome: Recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease

1 reference

7 January 2021

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

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7 January 2021

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

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7 January 2021

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

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7 January 2021

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

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7 January 2021

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees

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7 January 2021

A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM

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7 January 2021

Fast and sensitive silver staining of DNA in polyacrylamide gels

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7 January 2021

Basic local alignment search tool

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7 January 2021

Dimensions Publication ID

Identifiers

DOI

10.1038/NG935

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1037873071

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