(Q34581759)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

main subject

Bardet-Biedl syndrome

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Edwin M. Stone

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Val C. Sheffield

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Eamonn R Maher

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

10

Anna Rajab

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

Dominic R A White

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Anuradha Ganesh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Darryl Nishimura

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Eleanor Rattenberry

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Shakeel Ahmed

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Ursula M Smith

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Shanaz Pasha

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Sandy Raeburn

8

1 reference

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21 December 2019

Fiona Macdonald

11

1 reference

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21 December 2019

Eyal Banin

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Colin A Johnson

14

1 reference

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21 December 2019

publication date

15 November 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

21 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

volume

15

1 reference

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21 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

page(s)

173-178

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106446%20AND%20SRC:MED&resulttype=core&format=json

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

21 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

Mutations in MKKS cause Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

SCAMP: a spreadsheet to collate autozygosity mapping projects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

The oligogenic properties of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

Establishing a connection between cilia and Bardet-Biedl Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

Crystal structure of the thermosome, the archaeal chaperonin and homolog of CCT

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

High incidence of Bardet Biedl syndrome among the Bedouin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

inferred from DOI database lookup

7 January 2021

based on heuristic

Common autosomal recessive diseases in Oman derived from a hospital-based registry

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201736

inferred from DOI database lookup

7 January 2021

based on heuristic

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.5201736