Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds.

Journal of glaucoma - 1 Jan 2010

Bar-Yosef Udy, Levy Jaime, Elbedour Khalil, Ofir Rivka, Carmi Rivka, Birk Ohad S

Abstract excerpt

PURPOSE: To investigate CYP1B1 gene mutations in Arab-Bedouin Israeli patients with primary congenital glaucoma (PCG). METHODS: Testing linkage to candidate genes using adjacent polymorphic markers and sequencing of genomic DNA samples by standard methods. RESULTS: In 9 of 11 unrelated affected Israeli Bedouin families, PCG was associated with homozygosity of 3 different CYP1B1 mutations. As in Saudi Arabian...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arabs
Share to Aryl Hydrocarbon Hydroxylases
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P-450 CYP1B1

Share to Cytochrome P-450 Enzyme System

Share to Genetic Linkage

Share to Infant

Share to Israel

Source

Identifiers

PMID: 19593207
DOI: 10.1097/IJG.0b013e3181a98b6f

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds.PMID 19593207Read ↗

Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population.Semantic proximity Read ↗

Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.Semantic proximity Read ↗

Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.Semantic proximity Read ↗

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.Semantic proximity Read ↗

Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.Semantic proximity Read ↗

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital GlaucomaSemantic proximity Read ↗

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.Semantic proximity Read ↗

Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.Semantic proximity Read ↗

CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.Semantic proximity Read ↗

Clinical variability of CYP1B1 gene variants in Pakistani primary congenital glaucoma families.Semantic proximity Read ↗

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.Semantic proximity Read ↗

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.