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3.4.2 Gene studies (16)
Showing records 1 to 16
Display all abstracts in classification 3.4.2 Gene studies
Search within classification 3.4.2 Gene studies24695 Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma
Pasutto F; Matsumoto T; Mardin CY; Sticht H; Brandstatter JH; Michels-Rautenstrauss K; Weisschuh N; Gramer E; Ramdas WD; van Koolwijk LM
American Journal of Human Genetics 2009; 85: 447-456
24666 CYP1B1, a developmental gene with a potential role in glaucoma therapy
Choudhary D; Jansson I; Schenkman JB
Xenobiotica; the fate of foreign compounds in biological systems 2009; 39: 606-615
24668 Frequency of common CYP1B1 polymorphic variations in Delhi population of Northern India
Kumar V; Singh S; Ahmed RS; Banerjee BD; Ahmed T; Pasha ST
Environmental Toxicology and Pharmacology 2009; 28: 392-396
24920 Primary open-angle glaucoma: association with cholesterol 24S-hydroxylase (CYP46A1) gene polymorphism and plasma 24-hydroxycholesterol levels
Fourgeux C; Martine L; Björkhem I; Diczfalusy U; Joffre C; Acar N; Creuzot-Garcher C; Bron A; Bretillon L
Investigative Ophthalmology and Visual Science 2009; 50: 5712-5717
24683 Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study
Wolf C; Gramer E; Muller-Myhsok B; Pasutto F; Reinthal E; Wissinger B; Weisschuh N
BMC Medical Genetics 2009; 10: 91
24627 FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation
Aldinger KA; Lehmann OJ; Hudgins L; Chizhikov VV; Bassuk AG; Ades LC; Krantz ID; Dobyns WB; Millen KJ
Nature Genetics 2009; 41: 1037-1042
24586 Cloning, localization, and functional expression of the electrogenic Na(+) bicarbonate cotransporter (NBCe1) from zebrafish
Sussman CR; Zhao J; Plata C; Lu J; Daly C; Angle N; DiPiero J; Drummond IA; Liang JO; Boron WF
American Journal of Physiology and Cell Physiology 2009; 297: C865-C875
24996 Association of TNFA -308 G/A and TNFRI +36 A/G gene polymorphisms with glaucoma
Razeghinejad MR; Rahat F; Kamali-Sarvestani E
Ophthalmic Research 2009; 2: 118-124
24994 Optineurin and its mutants: molecules associated with some forms of glaucoma
Chalasani ML; Swarup G; Balasubramanian D
Ophthalmic Research 2009; 2: 176-184
24693 Gene and protein expression pilot profiling and biomarkers in an experimental mouse model of hypertensive glaucoma
Walsh MM; Yi H; Friedman J; Cho K-I; Tserentsoodol N; McKinnon S; Searle K; Yeh A; Ferreira PA
Experimental Biology and Medicine (Maywood, N.J.) 2009; 234: 918-930
24642 Primary open angle glaucoma in a Caucasian population is associated with the p53 codon 72 polymorphism
Daugherty CL; Curtis H; Realini T; Charlton JF; Zareparsi S
Molecular Vision 2009; 15: 1939-1944
24610 Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma
Narooie-Nejad M; Paylakhi SH; Shojaee S; Fazlali Z; Rezaei Kanavi M; Nilforushan N; Yazdani S; Babrzadeh F; Suri F; Ronaghi M
Human Molecular Genetics 2009; 18: 3969-3977
24966 Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma
Suri F; Yazdani S; Narooie-Nejhad M; Zargar SJ; Paylakhi SH; Zeinali S; Pakravan M; Elahi E
Ophthalmology 2009; 116: 2101-2109
24643 The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East
Avisar I; Lusky M; Robinson A; Shohat M; Dubois S; Raymond V; Gaton DD
Molecular Vision 2009; 15: 1945-1950
24639 Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis
Chen X; Yan N; Yun H; Sun J; Yu M; Zhou J; Cao G; Yin H; Li M; Liu X
Molecular Vision 2009; 15: 1530-1536
24852 Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry
Sharma S; Chataway T; Burdon KP; Jonavicius L; Klebe S; Hewitt AW; Mills RA; Craig JE
Experimental Eye Research 2009; 89: 479-485
