Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. (Q35239206)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981947%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance (English)

1 reference

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22 October 2019

1 reference

5

1 reference

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22 October 2019

author name string

Felbor U

1

1 reference

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22 October 2019

Suvanto EA

2

1 reference

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22 October 2019

Forsius HR

3

1 reference

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22 October 2019

Eriksson AW

4

1 reference

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22 October 2019

language of work or name

English

0 references

publication date

1 January 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981947%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

22 October 2019

published in

1 reference

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22 October 2019

volume

60

1 reference

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22 October 2019

issue

1

1 reference

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22 October 2019

page(s)

57-62

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THE DYSTROPHIES OF THE MACULA.

22 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

A fundus dystrophy with unusual features

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

The 1993-94 Généthon human genetic linkage map

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

Sorsby's pseudoinflammatory macular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

Sorsby's pseudoinflammatory macula dystrophy--Sorsby's fundus dystrophies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

Pseudoinflammatory fundus dystrophy: a follow-up study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712563

Sorsby's fundus dystrophy. A South African family with a point mutation on the tissue inhibitor of metalloproteinases-3 gene on chromosome 22

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8981947

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sorsby's fundus dystrophy. A clinical study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8981947

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8981947

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981947%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

PubMed publication ID

8981947

1 reference