Glaucoma

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

Journal of Medical Genetics Feb 2002, 39 (2) 118-124; DOI: 10.1136/jmg.39.2.118
OPA1 increases the risk of normal but not high tension glaucoma
P Yu-Wai-Man, J D Stewart, G Hudson, R M Andrews, P G Griffiths, M K Birch, P F Chinnery

Journal of Medical Genetics Feb 2010, 47 (2) 120-125; DOI: 10.1136/jmg.2009.067512
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

Journal of Medical Genetics Feb 2002, 39 (2) 145-148; DOI: 10.1136/jmg.39.2.145
Nail patella syndrome: a review of the phenotype aided by developmental biology
E Sweeney, A Fryer, R Mountford, A Green, I McIntosh

Journal of Medical Genetics Mar 2003, 40 (3) 153-162; DOI: 10.1136/jmg.40.3.153
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

Journal of Medical Genetics Apr 2003, 40 (4) 257-261; DOI: 10.1136/jmg.40.4.257
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
Martina Plášilová, Ivaylo Stoilov, Mansoor Sarfarazi, Ludovít Kádasi, Eva Feráková, Vladimír Ferák

Journal of Medical Genetics Apr 1999, 36 (4) 290-294; DOI: 10.1136/jmg.36.4.290
Primary open angle glaucoma is associated with a specific p53 gene haplotype
T Ressiniotis, P G Griffiths, M Birch, S Keers, P F Chinnery

Journal of Medical Genetics Apr 2004, 41 (4) 296-298; DOI: 10.1136/jmg.2003.016089
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

Journal of Medical Genetics Jan 2003, 40 (1) 34-36; DOI: 10.1136/jmg.40.1.34
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

Journal of Medical Genetics Jun 2000, 37 (6) 422-427; DOI: 10.1136/jmg.37.6.422
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly
R Richardson, D Donnai, F Meire, M J Dixon

Journal of Medical Genetics Jan 2004, 41 (1) 60-67; DOI: 10.1136/jmg.2003.012005

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