(Q34545100)

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Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

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Europe PubMed Central

PubMed publication ID

2 August 2017

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism (English)

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Europe PubMed Central

PubMed publication ID

2 August 2017

Bardet-Biedl syndrome

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based on heuristic

inferred from title

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based on heuristic

inferred from title

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Jean-Louis Mandel

15

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Christelle Thibault

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Christelle Thibault

4

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Corinne Stoetzel

2

object named as

Corinne Stoetzel

1 reference

Europe PubMed Central

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2 August 2017

Virginie Laurier

1

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Virginie Laurier

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Europe PubMed Central

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2 August 2017

Jean-Marc Danse

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object named as

Jean-Marc Danse

1 reference

Europe PubMed Central

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2 August 2017

Dominique Bonneau

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object named as

Dominique Bonneau

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Europe PubMed Central

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2 August 2017

7

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Nabiha Salem

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Europe PubMed Central

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2 August 2017

8

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Eliane Chouery

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Europe PubMed Central

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2 August 2017

5

object named as

Sandra Corbani

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Europe PubMed Central

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2 August 2017

Hélène Dollfus

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object named as

Hélène Dollfus

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Europe PubMed Central

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2 August 2017

author name string

Nadine Jalkh

6

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Europe PubMed Central

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2 August 2017

Olivier Poch

9

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Europe PubMed Central

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2 August 2017

Serge Licaire

10

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Europe PubMed Central

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2 August 2017

Patricia Amati-Bonneau

12

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Europe PubMed Central

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2 August 2017

André Mégarbané

14

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2 August 2017

publication date

5 July 2006

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Europe PubMed Central

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2 August 2017

European Journal of Human Genetics

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Europe PubMed Central

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2 August 2017

14

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Europe PubMed Central

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2 August 2017

11

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Europe PubMed Central

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2 August 2017

1195-1203

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Further support for digenic inheritance in Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

A second-generation linkage map of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Extended tracts of homozygosity in outbred human populations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

Variation of the McKusick-Kaufman Gene and Studies of Relationships with Common Forms of Obesity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

7 January 2021

based on heuristic

inferred from DOI database lookup

The oligogenic properties of Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

7 January 2021

based on heuristic

inferred from DOI database lookup

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

7 January 2021

based on heuristic

inferred from DOI database lookup

Pitfalls in homozygosity mapping.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

7 January 2021

based on heuristic

inferred from DOI database lookup

High incidence of Bardet Biedl syndrome among the Bedouin.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201688

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201688

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

release_4adewwiv5bgrnff6q5jlet3vsm

1 reference

https://api.fatcat.wiki/v0/release/4adewwiv5bgrnff6q5jlet3vsm

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

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