(Q33681656)

28 July 2017

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma (English)

1 reference

primary open angle glaucoma

28 July 2017

1 reference

D Stoilova

1

1 reference

28 July 2017

A Child

2

1 reference

28 July 2017

G Brice

3

1 reference

28 July 2017

T Desai

4

1 reference

28 July 2017

M Barsoum-Homsy

5

1 reference

28 July 2017

N Ozdemir

6

1 reference

28 July 2017

L Chevrette

7

1 reference

28 July 2017

M F Adam

8

1 reference

28 July 2017

H J Garchon

9

1 reference

28 July 2017

R Pitts Crick

10

1 reference

28 July 2017

M Sarfarazi

11

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1998

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

35

1 reference

28 July 2017

12

1 reference

28 July 2017

989-992

1 reference

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.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Recent advances in molecular genetics of glaucomas

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Identification of a gene that causes primary open angle glaucoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Number of people with glaucoma worldwide

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Genetic clues to glaucoma's secrets. The L Edward Jackson Memorial Lecture. Part 2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Molecular genetics of the glaucomas: mapping of the first five "GLC" loci.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Retinal circulation in primary open-angle glaucoma tested by videodensitometric image analysis

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051509

Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9863594

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9863594

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.35.12.989

1 reference

28 July 2017

1 reference

28 July 2017

1 reference