Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis (Q28250847)

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Language	Label	Description	Also known as
English	Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis	scientific article

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scholarly article

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Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis (English)

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congenital disorder

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Leber congenital amaurosis

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3

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Jean-Michel Rozet

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Isabelle Perrault

2

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16

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Josseline Kaplan

18

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Hélène Dollfus

8

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Dimitrios I. Zafeiriou

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Dimitrios Zafeiriou

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Jean-Louis Dufier

15

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Jean-Louis Dufier

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1

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Sylvain Hanein

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Dominique Ducroq

6

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Dominique Ducroq

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Fabienne Barbet

5

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Fabienne Barbet

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4

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Gaëlle Tanguy

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author name string

Patrick Calvas

7

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Christian Hamel

9

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Tuija Lopponen

10

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Francis Munier

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Louisa Santos

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Stavit Shalev

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language of work or name

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publication date

April 2004

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23

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4

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306-17

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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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A novel locus for Leber congenital amaurosis maps to chromosome 6q

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Null RPGRIP1 alleles in patients with Leber congenital amaurosis

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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The ABCA4 gene in autosomal recessive cone-rod dystrophies

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Ueber Retinitis pigmentosa und angeborene Amaurose

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Mutations in the CRB1 gene cause Leber congenital amaurosis

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Mutations in RPE65 cause Leber's congenital amaurosis

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Regulation of PAX-6 gene transcription: alternate promoter usage in human brain.

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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A promoter-associated polymorphic repeat modulates PAX-6 expression in human brain

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Spectrum of retGC1 mutations in Leber's congenital amaurosis

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

based on heuristic

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Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Prevalence of AIPL1 mutations in inherited retinal degenerative disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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A novel locus for Leber congenital amaurosis on chromosome 14q24.

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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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://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Photoaversion in Leber's congenital amaurosis

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Regulation of alpha-globin mRNA stability.

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Activation of the human PAX6 gene through the exon 1 enhancer by transcription factors SEF and Sp1

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https://api.crossref.org/works/10.1002%2FHUMU.20010

7 January 2021

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Identifiers

10.1002/HUMU.20010

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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