Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study (Q24622509)

1

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Jane S Green

2

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Yanli Fan

3

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Ashvinder K Bhogal

4

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Elizabeth Dicks

5

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Bridget A Fernandez

6

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Mark Stefanelli

7

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Christopher Murphy

8

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Benvon C Cramer

9

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John C S Dean

10

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Philip L Beales

11

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Anne S Bassett

13

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William S Davidson

14

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Patrick S Parfrey

American Journal of Medical Genetics Part A

15

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language of work or name

English

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publication date

1 February 2005

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published in

1 reference

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

volume

132A

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issue

4

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page(s)

352-60

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cites work

1 reference

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

7 April 2017

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

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

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

7 April 2017

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

7 April 2017

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

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

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

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

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Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

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

27 September 2017

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

27 September 2017

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

27 September 2017

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27 September 2017

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27 September 2017

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Laurence-Moon-Bardet-Biedl syndrome. Clinical, electrophysiological and genetic aspects

27 September 2017

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Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

27 September 2017

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Skeletal abnormalities of hands and feet in Laurence-Moon-Bardet-Biedl (LMBB) syndrome: a radiographic study

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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30 May 2018

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Behavioural phenotype of Bardet-Biedl syndrome

28 November 2018

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Does Bardet-Biedl syndrome have a characteristic face?

28 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295827

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

28 November 2018

1 reference

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Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/15637713

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Laurence-Moon and Bardet-Biedl syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15637713

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The importance of renal impairment in the natural history of Bardet-Biedl syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15637713

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.30406

1 reference

3117885

3117885

1 reference

1 reference

1 reference