(Q67510273)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1338765%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

title

Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1338765%20AND%20SRC:MED&resulttype=core&format=json

Leber congenital amaurosis

14 September 2019

main subject

1 reference

2

1 reference

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14 September 2019

author name string

Riess O

1

1 reference

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14 September 2019

Noeremolle A

3

1 reference

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14 September 2019

Shaikh RA

4

1 reference

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14 September 2019

Hayden MR

5

1 reference

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14 September 2019

Musarella MA

6

1 reference

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14 September 2019

publication date

1 January 1992

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14 September 2019

1 reference

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14 September 2019

volume

1

1 reference

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14 September 2019

issue

6

1 reference

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14 September 2019

page(s)

478-485

1 reference

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Rod-Cone Dysplasia in Irish Setters: A Defect in Cyclic GMP Metabolism in Visual Cells

14 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Complete cDNA sequences of mouse rod photoreceptor cGMP phosphodiesterase α- and β-subunits, and identification of β′-, a putative β-subunit isozyme produced by alternative splicing of the β-subunit gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Congenital Amaurosis of Retinal Origin (Leber)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

The beta subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Clinical and genetic heterogeneity in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Retinal aplasia in association with macular coloboma, keratoconus and cataract.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Cyclic GMP Accumulation Causes Degeneration of Photoreceptor Cells: Simulation of an Inherited Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Macular colobomas in Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Amaurosis congenita (Leber)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Retinal Aplasia as a Clinical Entity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Protocols for an improved detection of point mutations by SSCP

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010605

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010605

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1338765%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

1 reference