(Q39560572)

13 September 2017

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes (English)

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13 September 2017

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7

Fowzan S Alkuraya

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13 September 2017

1

Mohammed A Aldahmesh

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13 September 2017

2

Arif O Khan

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13 September 2017

Jawahir Y Mohamed

3

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13 September 2017

Hadia Hijazi

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4

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13 September 2017

Mohammed Al-Owain

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5

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13 September 2017

Abdulrahman Alswaid

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6

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13 September 2017

language of work or name

English

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publication date

30 August 2012

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13 September 2017

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13 September 2017

14

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13 September 2017

12

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13 September 2017

955-962

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https://scigraph.springernature.com/pub.10.1038/gim.2012.86

13 September 2017

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cites work

alpha-Crystallin quaternary structure and interactive properties control eye lens transparency.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Lens induction in vertebrates: variations on a conserved theme of signaling events

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Congenital cataracts and their molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Molecular characteristics of inherited congenital cataracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

iSyTE: integrated Systems Tool for Eye gene discovery.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Conservation in the CYP51 family. Role of the B' helix/BC loop and helices F and G in enzymatic function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Sterol 14alpha-demethylase cytochrome P450 (CYP51), a P450 in all biological kingdoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Short-range order of crystallin proteins accounts for eye lens transparency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

7 January 2021

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

7 January 2021

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

7 January 2021

Renalase is a novel, soluble monoamine oxidase that regulates cardiac function and blood pressure

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.86

7 January 2021

Identifiers

DOI

10.1038/GIM.2012.86

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Dimensions Publication ID

13 September 2017

1012569321

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Fatcat ID

release_6tjqcmo5wzhlxogyi673wekzca

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1 reference