(Q57278403)

7

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Charles Rotimi

6

object named as

Charles N Rotimi

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author name string

Tina Duelund Hjortshøj

1

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Karen Grønskov

2

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Alisdair R Philp

3

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Darryl Y Nishimura

4

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Thomas Rosenberg

8

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Karen Brøndum-Nielsen

American Journal of Medical Genetics

9

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language of work or name

English

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publication date

15 February 2008

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published in

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volume

146A

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issue

4

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page(s)

517-20

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cites work

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

Epidemiology of retinitis pigmentosa in Denmark.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

In search of susceptibility genes for type 2 diabetes in west africa: The design and results of the first phase of the AADM study

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2578871