Glaucoma

Citations 11-19 of 19 total displayed.

Original articles
Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucoma

S-Y Liao, S Ivanov, A Ivanova, S Ghosh, M A Cote, K Keefe, M Coca-Prados, E J Stanbridge, M I Lerman
J. Med. Genet. 2003; 40: 257-261. [Abstract] [Full text] [PDF] [Request Permissions]  

Review articles
Nail patella syndrome: a review of the phenotype aided by developmental biology

E Sweeney, A Fryer, R Mountford, A Green, I McIntosh
J. Med. Genet. 2003; 40: 153-162. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients

R Sitorus, S M Ardjo, B Lorenz, M Preising
J. Med. Genet. 2003; 40: e9. [Extract] [Full text] [PDF] [Request Permissions]  

Short reports
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

L Faivre, R J Gorlin, M K Wirtz, M Godfrey, N Dagoneau, J R Samples, M Le Merrer, G Collod-Beroud, C Boileau, A Munnich, V Cormier-Daire
J. Med. Genet. 2003; 40: 34-36. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36

L Naiglin, C Gazagne, F Dallongeville, C Thalamas, A Idder, O Rascol, F Malecaze, P Calvas
J. Med. Genet. 2002; 39: 118-124. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?

J Siegel-Bartlet, A Levin, A S Teebi, S J Kennedy
J. Med. Genet. 2002; 39: 145-148. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness

S Nicole Martin, Joanne Sutherland, Alex V Levin, Robert Klose, Megan Priston, Elise Héon
J. Med. Genet. 2000; 37: 422-427. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2 that affects anterior eye chamber development.

Angela F Davies, Ghazala Mirza, Frances Flinter, Jiannis Ragoussis
J. Med. Genet. 1999; 36: 708-710. [Abstract] [Full text] [PDF] [Request Permissions]  

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

Martina Plásilová, Ivaylo Stoilov, Mansoor Sarfarazi, Ludovít Kádasi, Eva Feráková, Vladimír Ferák
J. Med. Genet. 1999; 36: 290-294. [Abstract] [Full text] [PDF] [Request Permissions]