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1.2 Population genetics (15)
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Display all abstracts in classification 1.2 Population genetics
Search within classification 1.2 Population genetics18549 Haplo-insufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure
Chang B; Smith RS; Peters M; Savinova OV; Hawes NL; Zabaleta A; Nusinowitz S; Martin JE; Davisson ML; Cepko CL
BMC Genetics 2001; 2: 18
18548 Association of a single nucleotide polymorphism in the TIGR/Myocilin gene promoter with the severity of primary open-angle glaucoma
Colomb E; Nguyen TD; Bechetoille A; Dascotte JC; Valtot F; Brezin AP; Berkani M; Copin B; Gomez L; Polansky JR
Clinical Genetics 2001; 60: 220-225
18547 Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier
Craig JE; Baird PN; Healey DL; McNaught AI; McCartney PJ; Rait JL; Dickinson JL; Roe L; Fingert JH; Stone EM
Ophthalmology 2001; 108: 1607-1620
18546 Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia
Gronskov K; Olsen JH; Sand A; Pedersen W; Carlsen N; Bak Jylling AM; Lyngbye T; Brondum-Nielsen K; Rosenberg T
Human Genetics 2001; 109: 11-18
18545 Effect of two mutations of human CYP1B1, G61E and R469W on stability and endogenous steroid substrate metabolism
Jansson I; Stoilov I; Sarfarazi M; Schenkman JB
Pharmacogenetics 2001; 11: 793-801
18544 Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q
Kato R; Kishibayashi J; Shimokawa O; Harada N; Niikawa N; Matsumoto N
American Journal of Medical Genetics 2001; 15: 319-322
18543 Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients
Kawase C; Kawase K; Taniguchi T; Sugiyama K; Yamamoto T; Kitazawa Y; Alward WL; Stone EM; Nishimura DY; Sheffield VC
Journal of Glaucoma 2001; 10: 477-482
18542 Targeted disruption of the myocilin gene (Myoc) suggests that human glaucoma-causing mutations are gain of function
Kim BS; Savinova OV; Reedy MV; Martin J; Lun Y; Gan L; Smith RS; Tomarev SI; John SWM; Johnson RL
Molecular and Cellular Biology 2001; 21: 7707-7713
18541 Post-transcriptional modification of the gene genetically linked to juvenile open-angle glaucoma: novel transcripts in human ocular tissues
Kong TH
Gene 2001; 12: 115-122
18540 PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
Malandrini A; Mari F; Palmeri S; Gambelli S; Berti G; Bruttini M; Bardelli AM; Williamson K; van Heyningen V; Renieri A
Clinical Genetics 2001; 60: 151-154
18539 Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma
Mashima Y; Suzuki Y; Sergeer Y; Ohtake Y; Tamino T; Kimura H; Miyata H; Aihara M; Tamihara H; Inalani M
Investigative Ophthalmology and Visual Science 2001; 42: 2211-2216
18538 Expression of small heat shock proteins and intermediate filaments in the human optic nerve head astrocytes exposed to elevated hydrostatic pressure in vitro
Salvador-Silva M; Ricard CS; Agapova OA; Yang P; Hernandez MR
Journal of Neuroscience Research 2001; 66: 59-73
18537 A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome
Suzuki T; Takahashi K; Kuwahara S; Wada Y; Abe T; Tamai M
American Journal of Ophthalmology 2001; 132: 572-575
18536 Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene
Vincent AL; Billingsley G; Buys Y; Levin AV; Priston M; Trope G; Williams-Lyn D; Heon E
American Journal of Human Genetics 2002; 3: 70
18535 PAX6 mutation as a genetic factor common to aniridia and glucose intolerance
Yasuda T; Kajimoto Y; Fujitani Y; Watada H; Yamamoto S; Watarai T; Umayahara Y; Matsuhisa M; Gorogawa Si S; Kuwayama Y
Diabetes 2002; 51: 224-230