(Q39720809)

English

Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases

scientific article published on August 1996

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scholarly article

1 reference

Europe PubMed Central

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21 October 2019

Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases (English)

1 reference

Europe PubMed Central

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21 October 2019

Bernhard H Weber

1

1 reference

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21 October 2019

Eberhart Zrenner

7

1 reference

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21 October 2019

author name string

S Sander

2

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21 October 2019

C Kopp

3

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21 October 2019

D Walker

4

1 reference

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21 October 2019

A Eckstein

5

1 reference

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21 October 2019

B Wissinger

6

1 reference

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21 October 2019

T Grimm

8

1 reference

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21 October 2019

language of work or name

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publication date

1 August 1996

1 reference

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21 October 2019

British Journal of Ophthalmology

1 reference

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21 October 2019

80

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21 October 2019

8

1 reference

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21 October 2019

745-749

1 reference

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21 October 2019

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

14 September 2017

A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

14 September 2017

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

14 September 2017

The 1993-94 Généthon human genetic linkage map

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

14 September 2017

Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

14 September 2017

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

14 September 2017

Clinical and genetic heterogeneity in retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

14 September 2017

Mapping the human amylase gene cluster on the proximal short arm of chromosome 1 using a highly informative (CA)n repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

14 September 2017

Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

14 September 2017

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

17 June 2018

Dominant inheritance of Stargardt's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

17 June 2018

Dinucleotide repeat polymorphism at the D1S167 locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

17 June 2018

Stargardt's Disease and Fundus Flavimaculatus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

17 June 2018

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

27 July 2018

Integrated human genome-wide maps constructed using the CEPH reference panel.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=505593

20 August 2018

Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8949721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominantly inherited macular dystrophy with flecks (Stargardt)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8949721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term follow-up of dominant macular dystrophy with flecks (Stargardt)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8949721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/BJO.80.8.745

1 reference

Europe PubMed Central

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21 October 2019

release_vwoqtgoajfdujhrsjoa6uxa2oe

1 reference

https://api.fatcat.wiki/v0/release/vwoqtgoajfdujhrsjoa6uxa2oe

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8949721%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference

Europe PubMed Central

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21 October 2019

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