Results 61 to 70 of about 1,782 (159)

Childhood glaucoma: Implications for genetic counselling

Clinical Genetics, Volume 106, Issue 5, Page 545-563, November 2024.
Venn diagram representation of genes for which pathogenic variants have been identified to cause various types of childhood glaucoma. This diagram represents the genetic and phenotypic heterogeneity of childhood glaucoma illustrating the need for informed genetic counselling and testing as part of a multidisciplinary approach.
Giorgina Maxwell, Emmanuelle Souzeau
wiley   +1 more source

Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analyses.

Molecular vision, 2011
Purpose: To investigate the involvement of SPARC (secreted protein acidic and rich in cysteine) mutations and copy number variation in juvenile-onset primary open-angle glaucoma (JPOAG). Methods: This study involved the 27 family members from the GLC1M (glaucoma 1, open angle, M)-linked Philippine pedigree with JPOAG, 46 unrelated Chinese patients with
Chen, Li Jia, Tam, Pancy O.S., Tham, Clement C.Y., Liang, Xiao Ying, Chiang, Sylvia W.Y., Canlas, Oscar, Ritch, Robert, Rhee, Douglas J, Pang, Chi Pui   +8 more
openaire   +2 more sources

Glaucoma in Costa Rica: Initial approaches

Revista de Biología Tropical, 2004
Glaucoma is the second most frequent cause of irreversible blindness worldwide. Genetic factors have been implicated in the development of the disease.
Gabriela Chavarría-Soley, Bernd Rautenstrauss, Jorge Azofeifa   +2 more
doaj  

Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31. [PDF]

, 1996
Dimitrios Avramopoulos, George Kitsos, E Economou-Petersen, Maria Grigoriadou, Dimitrios Vassilopoulos, C. Papageorgiou, K. Psilas, M B Petersen   +7 more
openalex   +1 more source

Publication Only

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

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

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

Proceedings 36th Symposium ESVN‐ECVN 12th‐14th September 2024

Journal of Veterinary Internal Medicine, Volume 38, Issue 6, Page 3461-3536, November/December 2024.
wiley   +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