(Q34496759)

2 August 2017

title

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. (English)

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2 August 2017

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9

C Geoffrey Woods

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2 August 2017

Daniel J Hampshire

1

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2 August 2017

Mohammed Ayub

2

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2 August 2017

Kelly Springell

3

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2 August 2017

Emma Roberts

4

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2 August 2017

Hussain Jafri

5

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2 August 2017

Yasmin Rashid

6

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2 August 2017

Jacquelyn Bond

7

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2 August 2017

John H Riley

8

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2 August 2017

publication date

1 May 2006

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European Journal of Human Genetics

2 August 2017

published in

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2 August 2017

volume

14

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2 August 2017

issue

5

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2 August 2017

page(s)

543-548

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201577

2 August 2017

exact match

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cites work

Establishing a connection between cilia and Bardet-Biedl Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

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.5201577

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

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.5201577

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.5201577

Mutations in MKKS cause Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

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.5201577

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

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.5201577

The oligogenic properties of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

Cohen syndrome: essential features, natural history, and heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

G protein betagamma subunits and AGS3 control spindle orientation and asymmetric cell fate of cerebral cortical progenitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

LCN6, a novel human epididymal lipocalin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

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/10.1038%2FSJ.EJHG.5201577

inferred from DOI database lookup

7 January 2021

based on heuristic

Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201577

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201577

1 reference

2 August 2017

1 reference