(Q51983671)

19 April 2018

title

Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos? (English)

1 reference

19 April 2018

main subject

Bardet-Biedl syndrome

1 reference

4

1 reference

19 April 2018

author name string

Hassanain S Toma

1

1 reference

19 April 2018

Perciliz L Tan

2

1 reference

19 April 2018

Victor A McKusick

3

1 reference

19 April 2018

N A Adams

5

1 reference

19 April 2018

publication date

1 June 2007

1 reference

19 April 2018

published in

Ophthalmic Genetics

1 reference

19 April 2018

volume

28

1 reference

19 April 2018

issue

2

1 reference

19 April 2018

page(s)

95-99

1 reference

19 April 2018

Exploring the molecular basis of Bardet-Biedl syndrome

cites work

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Mutations in MKKS cause Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Obstetric antecedents of intraventricular hemorrhage and periventricular leukomalacia in the low-birth-weight neonate

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

Perinatal correlates of cerebral palsy and other neurologic impairment among very low birth weight children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701209545

10.1080/13816810701209545

21 January 2018

Identifiers

DOI

1 reference

19 April 2018

1 reference

19 April 2018