LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population (Q34705288)

4 August 2017

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population (English)

1 reference

4 August 2017

11

Himla Soodyall

0 references

Bharti Morar

Bharti Morar

6

0 references

Manel Juan

Manel Juan

8

0 references

Harish Padh

Harish Padh

13

0 references

Juan I Arostegui

Juan I Arostegui

9

0 references

David A. Mackey

David A Mackey

20

0 references

Radka Kaneva

19

Radka Kaneva

1 reference

4 August 2017

17

Partha Majumder

1 reference

4 August 2017

22

Luba Kalaydjieva

1 reference

4 August 2017

Dimitar N Azmanov

1

1 reference

4 August 2017

Stanislava Dimitrova

2

1 reference

4 August 2017

Laura Florez

3

1 reference

4 August 2017

Sylvia Cherninkova

4

1 reference

4 August 2017

Dragomir Draganov

5

1 reference

4 August 2017

Rosmawati Saat

7

1 reference

4 August 2017

Sriparna Ganguly

10

1 reference

4 August 2017

Himla Soodyall

11

1 reference

4 August 2017

Subhabrata Chakrabarti

12

1 reference

4 August 2017

Miguel A López-Nevot

14

1 reference

4 August 2017

Violeta Chernodrinska

15

1 reference

4 August 2017

Botio Anguelov

16

1 reference

4 August 2017

Lyudmila Angelova

18

1 reference

4 August 2017

Ivailo Tournev

21

1 reference

4 August 2017

language of work or name

English

0 references

publication date

17 November 2010

1 reference

European Journal of Human Genetics

4 August 2017

1 reference

4 August 2017

19

1 reference

4 August 2017

3

1 reference

4 August 2017

326-333

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.181

4 August 2017

0 references

cites work

A homozygous mutation in LTBP2 causes isolated microspherophakia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Null mutations in LTBP2 cause primary congenital glaucoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Pathophysiology of zonular diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

A newly discovered founder population: the Roma/Gypsies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Primary congenital glaucoma: 2004 update

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Mutation history of the roma/gypsies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Haploview: analysis and visualization of LD and haplotype maps

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Primary infantile glaucoma in an Australian population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Genetics and biochemistry of primary congenital glaucoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Clinical importance of the cytochromes P450

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Origins and divergence of the Roma (gypsies)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Cytochrome P450s: coupling development and environment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

A New Statistical Method for Haplotype Reconstruction from Population Data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Prediction of deleterious human alleles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

New estimates of intergenerational time intervals for the calculation of age and origins of mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Primary infantile glaucoma (congenital glaucoma)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Selection in favor of lysosomal storage disorders?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

Glaucoma in the Marfan syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062003

DMLE+: Bayesian linkage disequilibrium gene mapping.

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.181

Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.181

Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.181

Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.181

Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.181

Primary trabeculodysgenesis in association with neonatal Marfan syndrome

21 January 2018

1 reference

12 December 2020

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

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

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

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

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies

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

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.181

1 reference

4 August 2017

1 reference

4 August 2017

1 reference