(Q35434864)

English

Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness

scientific article

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness (English)

1 reference

Europe PubMed Central

8 August 2017

congenital disorder

0 references

author name string

S N Martin

1

1 reference

Europe PubMed Central

8 August 2017

J Sutherland

2

1 reference

Europe PubMed Central

8 August 2017

A V Levin

3

1 reference

Europe PubMed Central

8 August 2017

R Klose

4

1 reference

Europe PubMed Central

8 August 2017

M Priston

5

1 reference

Europe PubMed Central

8 August 2017

E Héon

6

1 reference

Europe PubMed Central

8 August 2017

language of work or name

0 references

publication date

1 June 2000

1 reference

Europe PubMed Central

8 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

8 August 2017

37

1 reference

Europe PubMed Central

8 August 2017

6

1 reference

Europe PubMed Central

8 August 2017

422-427

1 reference

Europe PubMed Central

8 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Glaucoma genetics, present and future

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Recent advances in molecular genetics of glaucomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

A second locus for Rieger syndrome maps to chromosome 13q14

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Congenital glaucoma due to dominant goniodysgenesis. A new concept of the heredity of glaucoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Primary infantile glaucoma (congenital glaucoma)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Axenfeld-Rieger syndrome. A spectrum of developmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

The molecular biology of cytochrome P450s.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

27 July 2018

Gene localization for aculeiform cataract, on chromosome 2q33-35.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734606

26 September 2018

Congenital glaucoma and its inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/10851252

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural alignments of P450s and extrapolations to the unknown

1 reference

https://pubmed.ncbi.nlm.nih.gov/10851252

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

1 reference

https://pubmed.ncbi.nlm.nih.gov/10851252

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10851252

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset

1 reference

https://pubmed.ncbi.nlm.nih.gov/10851252

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.37.6.422

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

ResearchGate publication ID

0 references

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