(Q34426860)

2 August 2017

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations (English)

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2 August 2017

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12

Eamonn R Maher

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2 August 2017

Tim Forshew

1

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2 August 2017

Colin A Johnson

2

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2 August 2017

Shagufta Khaliq

3

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2 August 2017

Shanaz Pasha

4

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2 August 2017

Catherine Willis

5

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2 August 2017

Rashida Abbasi

6

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2 August 2017

Louise Tee

7

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2 August 2017

Ursula Smith

8

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2 August 2017

Richard C Trembath

9

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2 August 2017

Syed Qasim Mehdi

10

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2 August 2017

Anthony T Moore

11

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2 August 2017

language of work or name

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16 June 2005

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2 August 2017

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2 August 2017

117

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2 August 2017

5

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2 August 2017

452-459

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https://scigraph.springernature.com/pub.10.1007/s00439-005-1309-9

2 August 2017

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cites work

An auditory domain in primate prefrontal cortex

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-1309-9

HSF4, a new member of the human heat shock factor family which lacks properties of a transcriptional activator

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-1309-9

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

21 January 2018

1 reference

12 December 2020

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

1 reference

12 December 2020

Aetiology of congenital and paediatric cataract in an Australian population

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.

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12 December 2020

A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract

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12 December 2020

The genetics of childhood cataract

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins

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12 December 2020

A gene causing autosomal recessive cataract maps to the short arm of chromosome 3

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12 December 2020

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

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12 December 2020

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12 December 2020

Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK.

1 reference

12 December 2020

Connexin46 mutations in autosomal dominant congenital cataract

1 reference

12 December 2020

Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography

1 reference

12 December 2020

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

1 reference

12 December 2020

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

1 reference

12 December 2020

Molecular genetic basis of inherited cataract and associated phenotypes

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12 December 2020

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

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12 December 2020

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q

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12 December 2020

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

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12 December 2020

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

1 reference

12 December 2020

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2

1 reference

12 December 2020

SCAMP: a spreadsheet to collate autozygosity mapping projects

1 reference

12 December 2020

A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.

1 reference

12 December 2020

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract

1 reference

12 December 2020

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts

1 reference

12 December 2020

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract

1 reference

12 December 2020

Developmentally dictated expression of heat shock factors: exclusive expression of HSF4 in the postnatal lens and its specific interaction with alphaB-crystallin heat shock promoter

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00439-005-1309-9

Identifiers

DOI

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Dimensions Publication ID

2 August 2017

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1 reference