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3.4.2 Gene studies (19)
Showing records 1 to 19
Display all abstracts in classification 3.4.2 Gene studies
Search within classification 3.4.2 Gene studies24279 Effects of disease causing mutations on the essential motions in proteins
Achary MS; Nagarajaram HA
Journal of Biomolecular Structure and Dynamics 2009; 26: 609-623
24379 Lack of association between optineurin gene variants T34T, E50K, M98K, 691-692insAG and R545Q and primary open angle glaucoma in Brazilian patients
Caixeta-Umbelino C; De Vasconcellos JPC; Costa VP; Kasahara N; Paolera MD; de Almeida GV; Cohen R; Mandia Jr C; Rocha MN; Richeti F
Ophthalmic Genetics 2009; 30: 13-18
24303 Mapping the disease-causative gene for a Chinese pedigree with primary open angle glaucoma
Liu T; He X
Chinese Ophthalmic Research 2009; 27: 401-406
24347 Lack of association between p53 gene polymorphisms and primary open angle glaucoma in the Japanese population
Mabuchi F; Sakurada Y; Kashiwagi K; Yamagata Z; Iijima H; Tsukahara S
Molecular Vision 2009; 15: 1045-1049
24353 Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population
Nakano M; Ikeda Y; Taniguchi T; Yagi T; Fuwa M; Omi N; Tokuda Y; Tanaka M; Yoshii K; Kageyama M
Proceedings of the National Academy of Sciences of the United States of America 2009; 106: 12838-12842
24208 Gene-environment interactions in ocular diseases
Sacca SC; Bolognesi C; Battistella A; Bagnis A; Izzotti A
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2009; 667: 98-117
24345 Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients
Saglar E; Yucel D; Bozkurt B; Ozgul RK; Irkec M; Ogus A
Molecular Vision 2009; 15: 1270-1276
24456 Primary open angle glaucoma was not found to be associated with p53 codon 72 polymorphism in a Brazilian cohort
Silva RE; Arruda JT; Rodrigues FW; Moura KKVO
Genetics and Molecular Research 2009; 8: 268-272
24374 Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia
Vatavuk Z; Skunca Herman J; Bencic G; Andrijevic Derk B; Lacmanovic Loncar V; Petric Vickovic I; Bucan K; Mandic K; Mandic A; Skegro I
Croatian Medical Journal 2009; 50: 17-22
24469 Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma
Choudhary D; Jansson I; Sarfarazi M; Schenkman JB
Pharmacogenet Genomics 2008; 18: 665-676
24350 Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: A pilot study
El-Gayar S; Ganesh A; Chavarria-Soley G; Al-Zuhaibi S; Al-Mjeni R; Raeburn S; Bialasiewicz AA
Molecular Vision 2009; 15: 1325-1331
24348 Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies
Kaur K; Ragge NK; Ragoussis J
Molecular Vision 2009; 15: 1366-1373
24346 Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients
Tanwar M; Dada T; Sihota R; Das TK; Yadav U; Dada R
Molecular Vision 2009; 15: 1200-1209
24008 Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
Ito YA; Footz TK; Berry FB; Mirzayans F; Yu M; Khan AO; Walter MA
Investigative Ophthalmology and Visual Science 2009; 50: 3573-3579
24349 Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern China
Cong Y; Guo X; Liu X; Cao D; Jia X; Xiao X; Li S; Fang S; Zhang Q
Molecular Vision 2009; 15: 1412-1417
24128 From epidemiology to lysyl oxidase like one (LOXL1) polymorphisms discovery: phenotyping and genotyping exfoliation syndrome and exfoliation glaucoma in Iceland
Jonasson F
Acta Ophthalmologica 2009; 87: 478-487
24352 Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese
Lee KYC; Ho SL; Thalamuthu A; Venkatraman A; Venkataraman D; Pek DCK; Aung T; Vithana EN
Molecular Vision 2009; 15: 1120-1126
24381 Association of LOXL1 gene with Finnish exfoliation syndrome patients
Lemmela S; Forsman E; Onkamo P; Nurmi H; Laivuori H; Kivela T; Puska P; Heger M; Eriksson A; Forsius H
Journal of Human Genetics 2009; 54: 289-297
24414 The ring 14 syndrome: Clinical and molecular definition
Zollino M; Seminara L; Orteschi D; Gobbi G; Giovannini S; Giustina ED; Frattini D; Scarano A; Neri G
American Journal of Medical Genetics, Part A 2009; 149: 1116-1124
