(Q35590740)

9 August 2017

title

Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family (English)

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9 August 2017

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6

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9 August 2017

Jamieson RV

1

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9 August 2017

Munier F

2

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9 August 2017

Balmer A

3

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9 August 2017

Farrar N

4

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9 August 2017

Perveen R

5

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9 August 2017

language of work or name

English

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publication date

1 April 2003

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British Journal of Ophthalmology

9 August 2017

published in

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9 August 2017

volume

87

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9 August 2017

issue

4

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9 August 2017

page(s)

411-412

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Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye.

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

The heritability of age-related cortical cataract: the twin eye study.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

Regulation of lens fiber cell differentiation by transcription factor c-Maf

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

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=1771582

Frequent dysregulation of the c-maf proto-oncogene at 16q23 by translocation to an Ig locus in multiple myeloma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

Autosomal dominant cataract and microcornea associated with myopia in a Sicilian 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=1771582

Variable expressivity of autosomal dominant microcornea with 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=1771582

v-maf, a viral oncogene that encodes a "leucine zipper" motif

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

Induction of lens differentiation by activation of a bZIP transcription factor, L-Maf

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771582

Family With Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12642301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/BJO.87.4.411

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9 August 2017

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9 August 2017

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