(Q35310688)

7 August 2017

title

Clinical and genetic heterogeneity in autosomal dominant cataract (English)

1 reference

7 August 2017

A Ionides

1

1 reference

7 August 2017

P Francis

2

1 reference

7 August 2017

V Berry

3

1 reference

7 August 2017

D Mackay

4

1 reference

7 August 2017

S Bhattacharya

5

1 reference

7 August 2017

A Shiels

6

1 reference

7 August 2017

A Moore

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 July 1999

1 reference

British Journal of Ophthalmology

7 August 2017

published in

1 reference

7 August 2017

volume

83

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7 August 2017

issue

7

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7 August 2017

page(s)

802-808

1 reference

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

7 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=1723116

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=1723116

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

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=1723116

A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 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=1723116

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

Autosomal dominant congenital cataract. Interocular phenotypic variability.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

The 1993-94 Généthon human genetic linkage map

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

Philly mouse: a new model of hereditary 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=1723116

Congenital anterior polar cataract: a review of 63 cases.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

Recruitment of enzymes as lens structural proteins

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene 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=1723116

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

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=1723116

Tau-crystallin/alpha-enolase: one gene encodes both an enzyme and a lens structural protein

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723116

The small heat-shock protein αB-crystallin as candidate autoantigen in multiple sclerosis

15 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

[The value of diagnostic tests in infertility]

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

Multifunctional lens crystallins and corneal enzymes. More than meets the eye

1 reference

12 December 2020

Anterior polar cataract: clinical spectrum and genetic linkage in a single family

1 reference

12 December 2020

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

1 reference

12 December 2020

Impaired development of lens fibers in genetic microphthalmia, eye lens obsolescence, Elo, of the mouse

1 reference

12 December 2020

The gene for the major intrinsic protein (MIP) of the ocular lens is assigned to human chromosome 12cen-q14

1 reference

12 December 2020

A gene location for the inheritance of the cataract Fraser (CatFr) mouse congenital cataract

1 reference

12 December 2020

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

1 reference

12 December 2020

Anterior polar congenital cataract and corneal astigmatism

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.83.7.802

1 reference

7 August 2017

1 reference

7 August 2017

1 reference