(Q35593318)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965161%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

title

The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes (English)

1 reference

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13 January 2020

0 references

6

1 reference

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13 January 2020

David A. Mackey

10

1 reference

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13 January 2020

3

Craig JE

1 reference

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13 January 2020

author name string

McKay JD

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965161%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Patterson B

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965161%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Russell-Eggitt IM

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965161%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Wirth MG

5

1 reference

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13 January 2020

Hewitt AW

7

1 reference

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13 January 2020

Cohn AC

8

1 reference

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13 January 2020

Kerdraon Y

9

1 reference

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13 January 2020

language of work or name

English

0 references

publication date

1 July 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965161%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

number of pages

4

1 reference

British Journal of Ophthalmology

inferred from page(s)

published in

1 reference

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13 January 2020

volume

89

1 reference

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13 January 2020

issue

7

1 reference

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13 January 2020

page(s)

831-834

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965161%20AND%20SRC:MED&resulttype=core&format=json

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

13 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

A high-resolution recombination map of the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

Comprehensive human genetic maps: individual and sex-specific variation in recombination

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

Aetiology of congenital and paediatric cataract in an Australian population

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

A progressive early onset cataract gene maps to human chromosome 17q24.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772710

A locus for autosomal dominant anterior polar cataract on chromosome 17p

26 September 2018

1 reference

12 December 2020

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

1 reference

12 December 2020

Ten novel mutations found in Aniridia

1 reference

12 December 2020

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

1 reference

12 December 2020

A locus for autosomal dominant posterior polar cataract on chromosome 1p

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.2004.058495

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965161%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965161%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference