Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement (Q29147474)

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Language	Label	Description	Also known as
English	Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement	scientific journal article

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scholarly article

1 reference

4 April 2017

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement (English)

1 reference

4 April 2017

Chromosome 8 open reading frame 37

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GOA release 2020-03-11

Alejandro Estrada Cuzcano

object named as

Alejandro Estrada-Cuzcano

1

0 references

object named as

Susanne Kohl

3

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object named as

H. Scheffer

18

0 references

6

object named as

Dror Sharon

1 reference

4 April 2017

17

object named as

Rob W. J. Collin

1 reference

4 April 2017

Frans P M Cremers

24

object named as

Frans P. M. Cremers

1 reference

4 April 2017

Anneke den Hollander

22

object named as

Anneke I. den Hollander

1 reference

4 April 2017

Bernd Wissinger

10

object named as

Bernd Wissinger

1 reference

4 April 2017

author name string

Kornelia Neveling

2

1 reference

4 April 2017

Eyal Banin

4

1 reference

4 April 2017

Ygal Rotenstreich

5

1 reference

4 April 2017

Tzipora C. Falik-Zaccai

7

1 reference

4 April 2017

Stephanie Hipp

8

1 reference

4 April 2017

Ronald Roepman

9

1 reference

4 April 2017

Stef J. F. Letteboer

11

1 reference

4 April 2017

Dorus A. Mans

12

1 reference

4 April 2017

Ellen A. W. Blokland

13

1 reference

4 April 2017

Michael P. Kwint

14

1 reference

4 April 2017

Sabine J. Gijsen

15

1 reference

4 April 2017

Ramon A. C. van Huet

16

1 reference

4 April 2017

Joris A. Veltman

19

1 reference

4 April 2017

Eberhart Zrenner

20

1 reference

4 April 2017

European Retinal Disease Consortium

21

1 reference

4 April 2017

B. Jeroen Klevering

23

1 reference

4 April 2017

language of work or name

0 references

publication date

13 January 2012

1 reference

4 April 2017

American Journal of Human Genetics

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4 April 2017

90

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4 April 2017

1

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4 April 2017

102–109

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4 April 2017

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

6 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

6 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

6 April 2017

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

6 April 2017

Cep164, a novel centriole appendage protein required for primary cilium formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

6 April 2017

Cone rod dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

6 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

6 April 2017

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

6 April 2017

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

6 April 2017

A new mathematical model for relative quantification in real-time RT-PCR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

6 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

6 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

7 April 2017

CLRN1 mutations cause nonsyndromic retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

The molecular basis of human retinal and vitreoretinal diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

Massively parallel sequencing of ataxia genes after array-based enrichment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

Perspective on genes and mutations causing retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

The cone dysfunction syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

3 June 2018

IQCB1 mutations in patients with leber congenital amaurosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

26 November 2018

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

26 November 2018

Population screening in a Druze community: the challenge and the reward.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

26 November 2018

Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

26 November 2018

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

26 November 2018

Epidemiology of retinitis pigmentosa in Denmark.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257957

26 November 2018

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

1 reference

https://pubmed.ncbi.nlm.nih.gov/22177090

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Perceived and actual performance of daily tasks: relationship to visual function tests in individuals with retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/22177090

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2011.11.015

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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