(Q33959625)

30 July 2017

1 reference

title

The genetics of childhood cataract (English)

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30 July 2017

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Francis PJ

1

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30 July 2017

Berry V

series ordinal

2

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30 July 2017

Bhattacharya SS

series ordinal

3

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30 July 2017

Moore AT

series ordinal

4

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30 July 2017

language of work or name

English

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publication date

1 July 2000

1 reference

Journal of Medical Genetics

30 July 2017

published in

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30 July 2017

volume

37

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30 July 2017

issue

7

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30 July 2017

page(s)

481-488

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

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

The gamma-crystallins and human cataracts: a puzzle made clearer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Clinical and genetic heterogeneity in autosomal dominant cataract

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Lens biology: development and human cataractogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Connexin46 mutations in autosomal dominant congenital cataract

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Gene sharing in lens and cornea: facts and implications

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Connexins, connexons, and intercellular communication

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Cataract mutations as a tool for developmental geneticists

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Autosomal dominant congenital cataract. Interocular phenotypic variability.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

The evolution of lenticular proteins: the beta- and gamma-crystallin super gene family

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Autosomal dominant congenital cataract. Morphology and genetic mapping

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Deletion mutation in an eye lens beta-crystallin. An animal model for inherited cataracts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

A frameshift mutation in the gamma E-crystallin gene of the Elo mouse

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Phenotype i associated with congenital cataract in Japanese

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

The Doyne Lecture. Congenital cataract: the history, the nature and the practice.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Mutations in the founder of the MIP gene family underlie cataract development in the mouse.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Probable assignment of the Duffy blood group locus to chromosome 1 in man

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

X-linked cataract and X-linked microphthalmos: how many deletion families?

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734631

Chromosome 14-terminal deletion and cataracts

10 December 2018

1 reference

12 December 2020

Long-term visual results and complications in children with aphakia. A function of cataract type

1 reference

12 December 2020

Confirmation of Duffy blood group antigen locus (FY) at 1q22-->q23 by fluorescence in situ hybridization

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

12 December 2020

A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract

1 reference

12 December 2020

Anterior polar congenital cataract and corneal astigmatism

1 reference

12 December 2020

X-Chromosomal-Linked Sutural Cataracts

1 reference

12 December 2020

1 reference

12 December 2020

Microphthalmia-congenital anterior polar cataract. An autosomal dominant syndrome

1 reference

12 December 2020

Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin

1 reference

12 December 2020

Cataract mutations and lens development

1 reference

12 December 2020

PROBABLE LINKAGE BETWEEN A CONGENITAL CATARACT LOCUS AND THE DUFFY BLOOD GROUP LOCUS

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.7.481

1 reference

30 July 2017

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30 July 2017

1 reference