(Q34452891)

2 August 2017

Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p. (English)

1 reference

2 August 2017

0 references

2

S Amer Riazuddin

1 reference

2 August 2017

Namerah Sabir

1

1 reference

2 August 2017

Haiba Kaul

3

1 reference

2 August 2017

Farheena Iqbal

4

1 reference

2 August 2017

Idrees A Nasir

5

1 reference

2 August 2017

Ahmad U Zafar

6

1 reference

2 August 2017

Zaheeruddin A Qazi

7

1 reference

2 August 2017

Nadeem H Butt

8

1 reference

2 August 2017

Shaheen N Khan

9

1 reference

2 August 2017

Tayyab Husnain

10

1 reference

2 August 2017

J Fielding Hejtmancik

11

1 reference

2 August 2017

Sheikh Riazuddin

12

1 reference

2 August 2017

30 December 2010

1 reference

2 August 2017

1 reference

2 August 2017

16

1 reference

2 August 2017

2911-2915

1 reference

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

A new locus for autosomal recessive congenital cataract identified in a Pakistani family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

Elimination of cataract blindness: a global perspective entering the new millenium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

Childhood blindness in the context of VISION 2020--the right to sight

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

The genetics of childhood cataract

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

Easy calculations of lod scores and genetic risks on small computers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

Magnitude and causes of blindness in the developing world

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

Fiber cell morphology and cytoplasmic texture in cataractous and normal human lens nuclei.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

Avoiding recomputation in linkage analysis.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013063

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

27 October 2018

1 reference

12 December 2020

Molecular genetics of cataract

1 reference

12 December 2020

Congenital ocular blindness in children, 1945 to 1984

1 reference

12 December 2020

Childhood blindness in India: causes in 1318 blind school students in nine states

1 reference

12 December 2020

Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract

1 reference

12 December 2020

Identifiers

PMCID

3013063

1 reference

2 August 2017

1 reference