Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

Kirk Mykytyn, Darryl Y Nishimura, +18 authors Val C. Sheffield
Published 2003 in American journal of human genetics

Abstract

Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with BBS are also at increased risk for diabetes mellitus, hypertension, and congenital heart disease. BBS is known to map to at least six loci: 11q13 (BBS1), 16q21… (More)

Race and ethnicity in genetic research.

Pamela Sankar, Mildred K Cho, Joanna Mountain
American journal of medical genetics. Part A
2007

Ciliary syndromes and treatment.

Michal Klysik
Pathology, research and practice
2008

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

Abstract

Topics

5 Figures and Tables

Cited By

Development of the zebrafish as a model for Bardet-Biedl syndrome

Elucidating a role for BBS3 in syndromic and non-syndromic retinal disease

Race and ethnicity in genetic research.

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

Ciliary syndromes and treatment.

Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet–Biedl syndrome 1 critical interval

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration

Genes and obesity: A cause and effect relationship

Genetics of human Bardet-Biedl syndrome, an updates.

Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

References

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

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

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

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

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

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

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

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

The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene.

Mutations in MKKS cause Bardet-Biedl syndrome

Slides referencing similar topics

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

Abstract

Topics

5 Figures and Tables

Cited By

Development of the zebrafish as a model for Bardet-Biedl syndrome

Elucidating a role for BBS3 in syndromic and non-syndromic retinal disease

Race and ethnicity in genetic research.

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

Ciliary syndromes and treatment.

Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet–Biedl syndrome 1 critical interval

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration

Genes and obesity: A cause and effect relationship

Genetics of human Bardet-Biedl syndrome, an updates.

Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

References

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

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

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

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

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

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

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

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

The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene.

Mutations in MKKS cause Bardet-Biedl syndrome

Similar Papers

Slides referencing similar topics