Glaucoma

Citations 1-10 of 19 total displayed.

Electronic letters
Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma

D P Dimasi, A W Hewitt, C M Green, D A Mackey, J E Craig
J. Med. Genet. 2005; 42: e55. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Mutation in PITX2 is associated with ring dermoid of the cornea

K Xia, L Wu, X Liu, X Xi, D Liang, D Zheng, F Cai, Q Pan, Z Long, H Dai, Z Hu, B Tang, Z Zhang, J Xia
J. Med. Genet. 2004; 41: e129. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

C Diesen, A Saarinen, H Pihko, C Rosenlew, B Cormand, W B Dobyns, J Dieguez, L Valanne, T Joensuu, A-E Lehesjoki
J. Med. Genet. 2004; 41: e115. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2–24.2.

B Pal, M D Mohamed, T J Keen, G A Williams, J A Bradbury, E Sheridan, C F Inglehearn
J. Med. Genet. 2004; 41: 772-777. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma

R Melki, E Colomb, N Lefort, A P Brézin, H-J Garchon
J. Med. Genet. 2004; 41: 647-651. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Primary open angle glaucoma is associated with a specific p53 gene haplotype

T Ressiniotis, P G Griffiths, M Birch, S Keers, P F Chinnery
J. Med. Genet. 2004; 41: 296-298. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil

D F Sena, S Finzi, K Rodgers, E Del Bono, J L Haines, J L Wiggs
J. Med. Genet. 2004; 41: e6. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

R Richardson, D Donnai, F Meire, M J Dixon
J. Med. Genet. 2004; 41: 60-67. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma

R Melki, A Belmouden, O Akhayat, A Brézin, H-J Garchon
J. Med. Genet. 2003; 40: 842-844. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing

T Aung, N D Ebenezer, G Brice, A H Child, Q Prescott, O J Lehmann, R A Hitchings, S S Bhattacharya
J. Med. Genet. 2003; 40: e101. [Extract] [Full text] [PDF] [Request Permissions]