advertisement
1.2 Population genetics (19)
Showing records 1 to 19
Display all abstracts in classification 1.2 Population genetics
Search within classification 1.2 Population genetics15813 Ocular changes in heredo-oto-ophthalmo-encephalopathy
Bek T
British Journal of Ophthalmology 2000; 84: 1298-1302
15948 Molecular genetics in the clinical practice of glaucoma
Blumenthal EZ; Weinreb RN
Ophthalmology Clinics of North America 2000; 13: 489-500
15829 Altered secretion of a TIGR/MYOC mutant lacking the olfactomedin domain
Caballero M; Rowlette LL; Borras T
Biochimica et Biophysica Acta 2000; 15: 447-460
15812 Characterization of gene expression in human trabecular meshwork using single-pass sequencing of 1060 clones
Gonzalez P; Epstein DL; Borras T
Investigative Ophthalmology and Visual Science 2000; 41: 3678-3693
15816 Expression of the TIGR gene in the iris, ciliary body, and trabecular meshwork of the human eye
Huang W; Jaroszewski J; Ortego J; Escribano J; Coca-Prados M
Ophthalmic Genetics 2000; 21: 155-169
15689 Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians
Juronen E; Tasa G; Veromann S; Parts L; Tiidla A; Pulges R; Panov A; Soovere L; Koka K; Mikelsaar AV
Experimental Eye Research 2000; 71: 447-452
15924 Regulation of human myocilin/TIGR gene transcription in trabecular meshwork cells and astrocytes: role of upstream stimulatory factor
Kirstein L; Cvekl A; Chauhan BK; Tamm ER
Genes to Cells 2000; 5: 661-676
15927 Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature
Kondo-Saitoh A; Matsumoto N; Sasaki T; Egashira M; Saitoh A; Yamada K; Niikawa N; Amemiya T
European Journal of Ophthalmology 2000; 10: 167-172
15770 3' deletions cause aniridia by preventing PAX6 gene expression
Lauderdale JD; Wilensky JS; Oliver ER; Walton DS; Glaser T
Proceedings of the National Academy of Sciences of the United States of America 2000; 97: 13755-13759
15909 Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
Lehmann OJ; Ebenezer ND; Jordan T; Fox M; Ocaka L; Payne A; Leroy BP; Clark BJ; Hitchings RA; Povey S
American Journal of Human Genetics 2000; 67: 1129-1135
15832 Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients
Leung YF; Baum L; Lam DSC; Fan DSP; Chua JKH; Pang CP
Human Genetics 2000; 107: 404-405
15962 Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion
Montgomery TL; Wyllie J; Oley C
Clinical Dysmorphology 2000; 9: 235-239
15754 Localization of myocilin to the golgi apparatus in Schlemm's canal cells
O'Brien ET; Ren Xo; Wang Y
Investigative Ophthalmology and Visual Science 2000; 41: 3842-3849
15756 Hunting for disease genes in multi-functional diseases
Pang CP; Baum L; Lam DSC
Clinical Chemistry and Laboratory Medicine 2000; 38: 819-825
15861 Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization
Swiderski RE; Ross JL; Fingert JH; Clark AF; Alward WL; Stone EM; Sheffield VC
Investigative Ophthalmology and Visual Science 2000; 41: 3420-3428
15885 The Gly367Arg mutation in the myocilin gene causes adult-onset primary open-angle glaucoma
Taniguchi F; Suzuki Y; Shirato S; Araie M
Japanese Journal of Ophthalmology 2000; 44: 445-448
15738 Ultrastructural localization of myocilin in human trabecular meshwork cells and tissues
Ueda J; Wentz-Hunter KK; Cheng EL; Fukuchi T; Abe H; Yue BY
Journal of Histochemistry and Cytochemistry 2000; 48: 1321-1330
15949 Genetics and glaucoma
Wiggs JL
Ophthalmology Clinics of North America 2000; 13: 481-488
15993 To screen, clone and sequence TIGR gene mutation in Chinese patients with primary open-angle glaucoma
Zhou Y; Jian Ge H; Guo Y
Chinese Journal of Ophthalmology 2000; 36: 416
