(Q51524444)

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Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

scientific article published on 18 February 2014

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

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author name string

C Sathya Priya

1

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

P Sen

2

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

V Umashankar

3

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

N Gupta

4

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

M Kabra

5

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

G Kumaramanickavel

6

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

C Stoetzel

7

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

H Dollfus

8

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

S Sripriya

9

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

publication date

18 February 2014

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Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

Clinical Genetics

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Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

87

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Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

2

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

161-166

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

Bardet-Biedl syndrome: a rare case report from North India

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

Exploring the molecular basis of Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

Bardet-Biedl syndrome.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12342

21 January 2018

Identifiers

10.1111/CGE.12342

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/24400638

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