(Q24681808)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

primary congenital glaucoma

5 December 2019

main subject

congenital disorder

0 references

1 reference

M Plásilová

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

I Stoilov

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

M Sarfarazi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

L Kádasi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

E Feráková

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

V Ferák

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

language of work or name

English

0 references

publication date

1 April 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

5 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

page(s)

290-294

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region

5 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

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.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

A comprehensive genetic map of the human genome based on 5,264 microsatellites

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

Isolation and characterization of the human cytochrome P450 CYP1B1 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

The global impact of glaucoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

Prevalence of congenital anomaly syndromes in a Spanish gypsy population

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

Genetic study of Welsh gypsies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

Recent advances in molecular genetics of glaucomas

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

The Presentation of Congenital Glaucoma

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734351

[Some aspects of congenital glaucoma (author's transl)]

28 November 2018

1 reference

12 December 2020

Genetic heterogeneity of congenital glaucoma

1 reference

12 December 2020

Congenital glaucoma in Gypsies from Slovakia

1 reference

12 December 2020

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

1 reference

12 December 2020

Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect

1 reference

12 December 2020

[The Slovak gypsies (Romany)--a population with the highest coefficient of inbreeding in Europe]

1 reference

12 December 2020

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

1 reference

12 December 2020

Structural alignments of P450s and extrapolations to the unknown

1 reference

12 December 2020

Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1175791

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1175791

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10227395%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

2 references

Consolidated OpenCitations Corpus – April 2017

1175791