(Q58378091)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21344540%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21344540%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

1 reference

1 reference

5

1 reference

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23 January 2020

Ajoy Vincent

6

1 reference

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23 January 2020

Karen Fieggen

7

1 reference

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23 January 2020

Samuel G. Jacobson

17

1 reference

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23 January 2020

A. Micheil Innes

18

1 reference

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23 January 2020

21

Elise Héon

1 reference

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23 January 2020

20

Kym Boycott

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21344540%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

author name string

Catherine Deveault

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21344540%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Gail Billingsley

2

1 reference

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23 January 2020

Jenea Bin

4

1 reference

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23 January 2020

Christina Gerth

8

1 reference

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23 January 2020

Nima Noordeh

9

1 reference

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23 January 2020

David Chitayat

12

1 reference

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23 January 2020

Tanja Knueppel

13

1 reference

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23 January 2020

Debra Kennedy

16

1 reference

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23 January 2020

Jacque L Duncan

3

1 reference

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23 January 2020

Elias I Traboulsi

10

1 reference

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23 January 2020

Gerald A Fishman

11

1 reference

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23 January 2020

José M Millán

14

1 reference

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23 January 2020

Francis L Munier

15

1 reference

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23 January 2020

Grant A Mitchell

19

1 reference

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23 January 2020

publication date

22 March 2011

1 reference

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23 January 2020

1 reference

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23 January 2020

volume

32

1 reference

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23 January 2020

page(s)

610-619

1 reference

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23 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21344540%20AND%20SRC:MED&resulttype=core&format=json

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

23 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

A BBSome subunit links ciliogenesis, microtubule stability, and acetylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Tandem affinity purification of the BBSome, a critical regulator of Rab8 in ciliogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Predicting the pathogenicity of RPE65 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21480

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21480

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21344540%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference