Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma (Q35166627)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850185%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma (English)

1 reference

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primary congenital glaucoma

11 February 2020

main subject

congenital disorder

0 references

1 reference

Hee-Jung Kim

1

1 reference

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11 February 2020

Wool Suh

2

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11 February 2020

Sung Chul Park

3

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11 February 2020

Chan Yun Kim

4

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11 February 2020

Ki Ho Park

5

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11 February 2020

Michael S Kook

6

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11 February 2020

Yong Yeon Kim

7

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11 February 2020

Chang-Sik Kim

8

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11 February 2020

Chan Kee Park

9

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11 February 2020

Chang-Seok Ki

10

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11 February 2020

Changwon Kee

11

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11 February 2020

publication date

9 August 2011

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11 February 2020

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11 February 2020

volume

17

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11 February 2020

page(s)

2093-2101

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Null mutations in LTBP2 cause primary congenital glaucoma

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese

13 July 2018

1 reference

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Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico

13 July 2018

1 reference

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Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations.

13 July 2018

1 reference

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Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma

13 July 2018

1 reference

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Genotype and phenotype correlations in congenital glaucoma.

13 July 2018

1 reference

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Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Genetics and biochemistry of primary congenital glaucoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Molecular genetics of primary congenital glaucoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

The development of the trabecular meshwork and its abnormality in primary infantile glaucoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Myocilin variants in Indian patients with open-angle glaucoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Molecular analysis of the myocilin gene in Chinese subjects with chronic primary-angle closure glaucoma.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1 -Mutated Hepatocellular Adenoma

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156779

Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma

16 November 2018

1 reference

12 December 2020

Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma

1 reference

12 December 2020

Molecular genetics of primary congenital glaucoma in Brazil

1 reference

12 December 2020

TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma

1 reference

12 December 2020

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador

1 reference

12 December 2020

Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India

1 reference

12 December 2020

Myocilin gene implicated in primary congenital glaucoma

1 reference

12 December 2020

Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations

1 reference

12 December 2020

CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma

1 reference

12 December 2020

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma

1 reference

12 December 2020

Identifiers

1 reference

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11 February 2020

1 reference