Cone rod dystrophies (Q21202953)

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scientific article

Language	Label	Description	Also known as
English	Cone rod dystrophies	scientific article

Statements

scholarly article

0 references

3 references

22 April 2019

25 April 2019

18 July 2020

Cone rod dystrophies (English)

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retinitis pigmentosa

3 references

22 April 2019

25 April 2019

18 July 2020

fundus dystrophy

1 reference

18 July 2020

author name string

Christian P Hamel

1

author given names

Christian P

author last names

Hamel

1 reference

Dimensions Publication ID

18 August 2022

language of work or name

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publication date

1 February 2007

3 references

22 April 2019

25 April 2019

18 July 2020

Orphanet Journal of Rare Diseases

3 references

22 April 2019

25 April 2019

18 July 2020

2

0 references

1

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7

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copyright license

Creative Commons Attribution 2.0 Generic

3 references

Europe PubMed Central

22 April 2019

Europe PubMed Central

25 April 2019

Europe PubMed Central

18 July 2020

copyright status

0 references

on focus list of Wikimedia project

0 references

An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

19 March 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=1808442

19 March 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=1808442

19 March 2017

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

19 March 2017

A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

19 March 2017

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

19 March 2017

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

19 March 2017

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

19 March 2017

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

19 March 2017

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

12 September 2017

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

12 September 2017

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

12 September 2017

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

12 September 2017

Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

12 September 2017

The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

12 September 2017

ABCA4 gene sequence variations in patients with 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=1808442

27 September 2017

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=1808442

27 September 2017

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

30 May 2018

Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

30 May 2018

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

Spondylometaphyseal dysplasia with cone-rod dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

Cone-Rod Dystrophy in Thiamine-Responsive Megaloblastic Anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

The ABCA4 gene in autosomal recessive cone-rod dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

A one-hit model of cell death in inherited neuronal degenerations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1808442

29 November 2018

Inherited progressive cone--rod dystrophy and alopecia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17270046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17270046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17270046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cleft lip and cone-rod dystrophy in a consanguineous sibship

1 reference

https://pubmed.ncbi.nlm.nih.gov/17270046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An analysis of ABCR mutations in British patients with recessive retinal dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17270046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model

1 reference

https://pubmed.ncbi.nlm.nih.gov/17270046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]

1 reference

https://pubmed.ncbi.nlm.nih.gov/17270046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24

1 reference

https://pubmed.ncbi.nlm.nih.gov/17270046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-2-7

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

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