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

Molecular and Clinical Evaluation of a Patient Hemizygous for TIGR/MYOC

1 Nov 2001

Abstract excerpt

OBJECTIVE: To determine if a patient with an interstitial deletion of chromosome 1 is hemizygous for the TIGR/MYOC gene and if that patient has glaucoma. METHODS: A patient with an interstitial deletion of chromosome 1 was clinically examined for evidence of glaucoma. DNA samples from the patient and her family were used for molecular studies to determine the boundaries of the chromosome 1 deletion using...

Read the complete abstract on PubMed

Topics

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

Share to Glaucoma and retinal disorders
Share to Retinal Development and Disorders
Share to Vestibular and auditory disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 11709019
DOI: 10.1001/archopht.119.11.1674

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular and Clinical Evaluation of a Patient Hemizygous for TIGR/MYOCPMID 11709019Read ↗

Targeted Disruption of the Myocilin Gene (<i>Myoc</i>) Suggests that Human Glaucoma-Causing Mutations Are Gain of FunctionSemantic proximity Read ↗

Genomic Organization of the Human Myocilin Gene (MYOC) Responsible for Primary Open Angle Glaucoma (GLC1A)Semantic proximity Read ↗

Founder TIGR/myocilin mutations for glaucoma in the Québec population.Semantic proximity Read ↗

GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.Semantic proximity Read ↗

Variations in the myocilin gene in patients with open-angle glaucoma.Semantic proximity Read ↗

The dawn of genetic testing for glaucoma.Semantic proximity Read ↗

Myocilin and glaucoma: A TIGR by the tail?Semantic proximity Read ↗

Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion.Semantic proximity Read ↗

Prevalence of Mutations in TIGR/Myocilin in Patients with Adult and Juvenile Primary Open-Angle GlaucomaSemantic proximity Read ↗

Glaucoma genetics: where are we? Where will we go?Semantic proximity Read ↗

Mutations in MYOC gene of Indian primary open angle glaucoma patients.Semantic proximity Read ↗

The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area.Semantic proximity Read ↗

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