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1.2 Population genetics (17)
Showing records 1 to 17
Display all abstracts in classification 1.2 Population genetics
Search within classification 1.2 Population genetics18902 Expression of matrix metalloproteinases and tissue inhibitors of metalloproteinases in human optic nerve head astrocytes
Agapova OA; Ricard CS; Salvador-Silva M; Hernandez MR
GLIA 2001; 33: 205-216
18903 Micro syndrome in Muslim Pakistani children
Ainsworth JR; Morton JE; Good P; Woods CG; George ND; Shield JP; Bradbury J; Henderson MJ; China J
Ophthalmology 2001; 108: 491-497
18904 Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice
Anderson MG; Smith RS; Savinova OV; Hawes NL; Chang B; Zabaleta A; Wilpan R; Heckenlively JR; Davisson M; John SW
BMC Genetics 2001; 2: 1
18905 Familial occurrence of pigment dispersion syndrome
Bovell AM; Damji KF; Dohadwala AA; Hodge WG; Allingham RR
Canadian Journal of Ophthalmology 2001; 36:11-17
18906 Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head
Clark AF; Kawase K; English-Wright S; Lane D; Steely HT; Yamamoto T; Kitazawa Y; Kwon YH; Fingert JH; Swiderski RE
FASEB Journal 2001; 5;
18907 Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension
Fingert JH; Clark AF; Craig JE; Alward WLM; Snibson GR; McLaughlin M; Tuttle L; Mackey DA; Sheffield VC; Stone EM
Investigative Ophthalmology and Visual Science 2001; 42: 145-152
18908 Molecular and clinical characterization of a patient with a chromosome 4p deletion, Wolf-Hirschhorn syndrome, and congenital glaucoma
Finzi S; Pinto CF; Wiggs JL
Ophthalmic Genetics 2001; 22: 35-41
18909 Altered gene expression in lymphocytes of patients with normal-tension glaucoma
Golubnitschaja-Labudova O; Liu R; Decker C; Zhu P; Haefliger IO; Flammer J
Current Eye Research 2000; 21: 867-876
18910 Open angle glaucoma as a manifestation of Waardenburg's syndrome
Gupta V; Aggarwal HC
Indian Journal of Ophthalmology 2000; 48: 49-50
18911 Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma
Igarashi T; Inatomi J; Sekine T; Seki G; Shimadzu M; Tozawa F; Takeshima Y; Takumi T; Takahashi T; Yoshikawa N
Klinische Monatsblätter für Augenheilkunde 2001; 12: 713-718
18912 Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor
Jacobson N; Andrews M; Shepard AR; Nishimura DY; Searby CC; Fingert JH; Hageman G; Mullins R; Davidson BL; Kwon YH
Human Molecular Genetics 2001; 10: 117-125
18913 Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma
Kakiuchi-Matsumoto T; Isashiki Y; Ohba N; Kimura K; Sonoda S; Unoki K
American Journal of Ophthalmology 2001; 131: 345-350
18914 A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein
Mabuchi F; Yamagata Z; Kashiwagi K; Ishijima K; Tang S; Iijima H; Tsukahara S
Journal of Human Genetics 2001; 46: 85-89
18915 Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma
Mabuchi F; Yamagata Z; Kashiwagi K; Tang S; Iijima H; Tsukahara S
Clinical Genetics 2001; 59: 263-268
18916 A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
Nishimura DY; Searby CC; Alward WLM; Walton D; Craig JE; Mackey DA; Kawase K; Kanis AB; Patil SR; Stone EM
American Journal of Human Genetics 2001; 68: 364-372
18917 The presence and properties of myocilin in the aqueous humor
Russell P; Tamm ER; Grehn FJ; Picht G; Johnson M
Investigative Ophthalmology and Visual Science 2001; 42: 983-986
18918 Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
Semina EV; Brownell I; Mintz-Hittner HA; Murray JC; Jamrich M
Human Molecular Genetics 2001; 10: 231-236
