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Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis
scientific article
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instance of
scholarly article
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title
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis
(English)
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main subject
congenital disorder
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Leber congenital amaurosis
1 reference
based on heuristic
inferred from title
author
Sylvie Gerber
series ordinal
3
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Arnold Munnich
series ordinal
9
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Jean-Michel Rozet
series ordinal
11
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Isabelle Perrault
series ordinal
1
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Josseline Kaplan
series ordinal
10
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Hélène Dollfus
series ordinal
6
object named as
Helene Dollfus
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Jean-Louis Dufier
series ordinal
8
object named as
Jean-Louis Dufier
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Sylvain Hanein
series ordinal
2
object named as
Sylvain Hanein
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Dominique Ducroq
series ordinal
5
object named as
Dominique Ducroq
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Fabienne Barbet
series ordinal
4
object named as
Fabienne Barbet
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author name string
Christian Hamel
series ordinal
7
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language of work or name
English
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publication date
October 2004
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published in
American Journal of Human Genetics
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volume
75
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issue
4
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page(s)
639-46
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cites work
Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
Null RPGRIP1 alleles in patients with Leber congenital amaurosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
A novel locus for Leber congenital amaurosis maps to chromosome 6q
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
Recovery of visual functions in a mouse model of Leber congenital amaurosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
Mutations in the CRB1 gene cause Leber congenital amaurosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 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
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
Mutations in RPE65 cause Leber's congenital amaurosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
24 March 2017
Gene therapy for Leber congenital amaurosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
27 September 2017
Retinoid cycle in the vertebrate retina: experimental approaches and mechanisms of isomerization.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
27 September 2017
Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
27 September 2017
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
27 September 2017
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
27 September 2017
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
27 September 2017
A novel locus for Leber congenital amaurosis on chromosome 14q24.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
27 September 2017
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
30 May 2018
Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182050
retrieved
29 November 2018
Identifiers
DOI
10.1086/424889
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3670700
Fatcat ID
release_sr3x3tjinjg7djlgjscrepxgq4
0 references
OpenCitations bibliographic resource ID
3670700
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3670700
PMC publication ID
1182050
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3670700
PubMed publication ID
15322982
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3670700
ResearchGate publication ID
8389007
0 references
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