(Q43178996)

15 November 2017

title

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes (English)

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15 November 2017

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Bardet-Biedl syndrome

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inferred from title

author name string

Tina Duelund Hjortshøj

1

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15 November 2017

Karen Grønskov

2

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15 November 2017

Alisdair R Philp

3

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15 November 2017

Darryl Y Nishimura

4

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15 November 2017

Ruth Riise

5

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15 November 2017

Val C Sheffield

6

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15 November 2017

Thomas Rosenberg

7

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15 November 2017

Karen Brøndum-Nielsen

8

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15 November 2017

publication date

1 April 2010

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15 November 2017

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15 November 2017

volume

31

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15 November 2017

issue

4

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15 November 2017

page(s)

429-436

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Prevalence of retinitis pigmentosa and allied disorders in Denmark. II. Systemic involvement and age at onset

15 November 2017

cites work

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Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21204

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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/10.1002%2FHUMU.21204

7 January 2021

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation

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https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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/10.1002%2FHUMU.21204

7 January 2021

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/10.1002%2FHUMU.21204

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Further support for digenic inheritance in Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

The epidemiology of retinitis pigmentosa in Denmark

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

The cause of death in Laurence-Moon-Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Bardet-Biedl syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21204

7 January 2021

Identifiers

DOI

10.1002/HUMU.21204

1 reference

15 November 2017

1 reference