(Q24619758)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20451172%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20451172%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

17

1 reference

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2 February 2020

Yue Wang

3

1 reference

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2 February 2020

Don Zack

16

1 reference

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2 February 2020

author name string

S Amer Riazuddin

1

1 reference

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2 February 2020

Muhammad Iqbal

2

1 reference

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2 February 2020

Tomohiro Masuda

4

1 reference

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2 February 2020

Yuhng Chen

5

1 reference

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2 February 2020

Sara Bowne

6

1 reference

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2 February 2020

Lori S Sullivan

7

1 reference

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2 February 2020

Naushin H Waseem

8

1 reference

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2 February 2020

Shomi Bhattacharya

9

1 reference

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2 February 2020

Kang Zhang

11

1 reference

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2 February 2020

Shaheen N Khan

12

1 reference

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2 February 2020

Sheikh Riazuddin

13

1 reference

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2 February 2020

J Fielding Hejtmancik

14

1 reference

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2 February 2020

Paul A Sieving

15

1 reference

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2 February 2020

Stephen P Daiger

10

1 reference

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2 February 2020

language of work or name

English

0 references

publication date

6 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20451172%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

2 February 2020

published in

1 reference

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2 February 2020

volume

86

1 reference

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2 February 2020

issue

5

1 reference

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2 February 2020

page(s)

805-812

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20451172%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

The Ciliopathies: An Emerging Class of Human Genetic Disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

Easy calculations of lod scores and genetic risks on small computers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

Perspective on genes and mutations causing retinitis pigmentosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

Retinitis pigmentosa: genes, proteins and prospects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

Clinical findings and common symptoms in retinitis pigmentosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

Molecular genetics of human retinal dystrophies

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869005

10.1016/J.AJHG.2010.04.001

28 November 2018

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20451172%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20451172%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

20451172

2 references