Results 61 to 70 of about 1,926 (144)

Absence of myocilin and optineurin mutations in a large Philippine family with juvenile onset primary open angle glaucoma.

Molecular vision, 2005
To analyze the role of the two primary open angle glaucoma (POAG) genes, myocilin (MYOC) and optineurin (OPTN), in a large Philippine family segregating autosomal dominant juvenile onset open angle glaucoma (JOAG).The coding sequences of the MYOC and OPTN genes were screened in 27 family members by polymerase chain reaction and direct sequencing.
Dan Yi, Wang, Bao Jian, Fan, Oscar, Canlas, Pancy O S, Tam, Robert, Ritch, Dennis S C, Lam, Dorothy S P, Fan, Chi Pui, Pang   +7 more
openaire   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.

Molecular vision, 2006
To map the disease-associated locus of a family with autosomal dominant juvenile-onset primary open angle glaucoma (JOAG) and to screen the novel glaucoma gene WD repeat domain 36 (WDR36).Complete ophthalmic examination and genomic DNA were obtained from 27 family members, in which nine were confirmed JOAG patients.
Chi Pui, Pang, Bao Jian, Fan, Oscar, Canlas, Dan Yi, Wang, Stephane, Dubois, Pancy Oi Sin, Tam, Dennis Shun Chiu, Lam, Vincent, Raymond, Robert, Ritch   +8 more
openaire   +1 more source

Poster Sessions

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Case Report: Novel <i>FOXC1</i> variant c.311T>G (p.Ile104Ser) in a Chinese family with Axenfeld-Rieger syndrome. [PDF]

Front Med (Lausanne)
Lin B, Li L, Li DK.
europepmc   +1 more source

Genetic Risk Factors and Clinical Implications of Glaucoma in the Saudi Population: A Review. [PDF]

Int J Mol Sci
Alotaibi AF, Maawadh LMA, Almutairi MNO, Hameed S, Malik R, Abu-Amero KK.   +5 more
europepmc   +1 more source

A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the <i>CPAMD8</i> Gene. [PDF]

Genes (Basel)
Veleva-Krasteva N, Genov K, Kamenarova K, Kaneva Y, Mihova K, Kostova S, Kaneva R, Oscar A.   +7 more
europepmc   +1 more source

Correlation between pathogenic <i>CYP1B1</i> variants and trabeculodysgenesis under ultrasound biomicroscopy in primary congenital glaucoma. [PDF]

Int J Ophthalmol
Gao Y, Lin DT, Zhou T, He LH, Zhao KX, Yu XW, Deng L, Fan ZG, Shi Y.   +8 more
europepmc   +1 more source