BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families (Q34470300)

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English	BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Bardet-Biedl syndrome

1 reference

based on heuristic

inferred from title

Jean-Louis Mandel

8

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object named as

Alain Verloes

6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Hélène Dollfus

10

object named as

Hélène Dollfus

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Laurence Faivre

3

object named as

Laurence Faivre

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Corinne Stoetzel

1

object named as

Corinne Stoetzel

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Europe PubMed Central

PubMed publication ID

2 August 2017

Virginie Laurier

2

object named as

Virginie Laurier

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

author name string

André Mégarbané

4

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Fabienne Perrin-Schmitt

5

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Europe PubMed Central

PubMed publication ID

2 August 2017

Dominique Bonneau

7

1 reference

Europe PubMed Central

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2 August 2017

Mireille Cossee

9

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Europe PubMed Central

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2 August 2017

publication date

25 November 2005

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Europe PubMed Central

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2 August 2017

Journal of Human Genetics

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Europe PubMed Central

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2 August 2017

51

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Europe PubMed Central

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2 August 2017

1

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2 August 2017

81-84

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Europe PubMed Central

PubMed publication ID

2 August 2017

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

1 reference

https://pubmed.ncbi.nlm.nih.gov/16308660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-005-0320-2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

0 references

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