Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping (Q34473405)

2 August 2017

title

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping (English)

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2 August 2017

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13

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14

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ORCID Public Data File 2021

2 August 2017

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author name string

H M Harville

1

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2 August 2017

S Held

2

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2 August 2017

A Diaz-Font

3

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2 August 2017

E E Davis

4

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2 August 2017

B H Diplas

5

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2 August 2017

R A Lewis

6

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2 August 2017

Z U Borochowitz

7

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2 August 2017

W Zhou

8

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2 August 2017

M Chaki

9

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2 August 2017

J MacDonald

10

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2 August 2017

H Kayserili

11

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2 August 2017

P L Beales

12

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2 August 2017

F Hildebrandt

15

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2 August 2017

language of work or name

English

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publication date

24 September 2009

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Journal of Medical Genetics

2 August 2017

published in

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2 August 2017

volume

47

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2 August 2017

issue

4

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2 August 2017

page(s)

262-267

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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

2 August 2017

cites work

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Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

6 July 2018

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A systematic approach to mapping recessive disease genes in individuals from outbred populations

6 July 2018

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

6 July 2018

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Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

6 July 2018

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

6 July 2018

1 reference

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

6 July 2018

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

6 July 2018

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

6 July 2018

1 reference

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

6 July 2018

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Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

6 July 2018

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ALOHOMORA: a tool for linkage analysis using 10K SNP array data

6 July 2018

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

6 July 2018

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

6 July 2018

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Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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Further support for digenic inheritance in Bardet-Biedl syndrome

6 July 2018

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

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Allegro, a new computer program for multipoint linkage analysis

6 July 2018

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A pair of siblings with adiposo-genital dystrophy. 1922.

6 July 2018

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On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920.

6 July 2018

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Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

6 July 2018

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27 October 2018

Identifiers

DOI

10.1136/JMG.2009.071365

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2 August 2017

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2 August 2017

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