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1.2 Population genetics (25)
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Display all abstracts in classification 1.2 Population genetics
Search within classification 1.2 Population genetics5930 The genetics of open-angle glaucoma: the story of GLC1A and myocilin
Alward WLM
Eye 2000; 14: 429-436
5931 Axenfeld-Rieger syndrome in the age of molecular genetics
Alward WLM
American Journal of Ophthalmology 2000; 130: 107-115
5932 Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma
Angius A; Spinelli P; Ghilotti G; Casu G; Sole G; Loi A; Totaro A; Zelante L; Gasparini P; Orzalesi N
Archives of Ophthalmology 2000; 118: 674-679
5933 A DIDMOAD syndrome family with juvenile glaucoma and myopia findings
Bekir NA; Gungor K; Guran S
Acta Ophthalmologica Scandinavica 2000; 78: 480-482
5934 Genetic screening in a large family with juvenile onset primary open angle glaucoma
Booth AP; Anwar R; Chen H; Churchill AJ; Jay J; Polansky J; Nguyen T; Markham AF
British Journal of Ophthalmology 2000; 84: 722-726
5935 Mutations in the third exon of the MYOC gene in Spanish patients with primary open angle glaucoma
Cabana Vazquez M; Olmedo Herrero MV; Baiget Bastus M; Valverde Perez D
Ophthalmic Genetics 2000; 21: 109-115
5936 Mutation in the PAX6 gene in twenty patients with aniridia.
Chao LY; Huff V; Strong LC; Saunders GF
Human Mutation 2000; 15: 332-339
5937 Familial occurrence of artefactual ocular hypertension from thick corneas and of primary open angle glaucoma in a French Canadian kindred
Dohadwala AA; Damji KF
Ophthalmic Genetics 2000; 21: 1-7
5938 The horse homolog of congenital aniridia conforms to codominant inheritance
Ewart SL; Ramsey DT; Xu J; Meyers D
Journal of Heredity 2000; 91: 93-98
5939 Myocilin and glaucoma: a TIGR by the tail?
Johnson DH
Archives of Ophthalmology 2000; 118: 974-978
5940 Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma
Kiwaki T; Umehara F; Takashima H; Nakagawa M; Kamimura K; Kashio N; Sakamoto Y; Unoki K; Nobuhara Y; Michizono K
Neurology 2000; 55: 392-397
5941 Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma
Lam DSC; Leung YF; Chua JKH; Baum L; Fan DSP; Choy KW; Pang CP
Investigative Ophthalmology and Visual Science 2000; 41: 1386-1391
5942 Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness
Martin SN; Sutherland J; Levin AV; Klose R; Priston M; Heon E
Journal of Medical Genetics 2000; 37: 422-727
5943 Accuracy and implications of a reported family history of glaucoma: experience from the Glaucoma Inheritance Study in Tasmania
McNaught AI; Allen JG; Healey DL; McCartney PJ; Coote MA; Wong TL; Craig JE; Green CM; Rait JL; Mackey DA
Archives of Ophthalmology 2000; 118: 900-904
5944 Screening relatives of patients with familial chronic open angle glaucoma
Nguyen RL; Raja SC; Traboulsi EI
Ophthalmology 2000; 107: 1294-1297
5945 Regulation of TIGR/MYOC gene expression in human trabecular meshwork cells
Polansky JR; Fauss DJ; Zimmerman CC
Eye 2000; 14: 503-514
5946 Molecular genetics of primary congenital glaucoma
Sarfarazi M; Stoilov I
Eye 2000; 14: 422-428
5947 Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma
Shimizu S; Lichter PR; Johnson AT; Zhou Z; Higashi M; Gottfredsdottir M; Othman M; Moroi SE; Rozsa FW; Schertzer RM
American Journal of Ophthalmology 2000; 130: 165-177
5948 Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
Smith RS; Zabaleta A; Kume T; Savinova OV; Kidson SH; Martin JE; Nishimura DY; Alward WLM; Hogan BL; John SW
Human Molecular Genetics 2000; 9: 1021-1032
5949 Genetic studies on primary open angle glaucoma
Szaflik J; Ambroziak AM; Bal J; Gacek M
Klinika Oczna 2000; 102: 9-12
5950 An attempt to identify mutations in the TIGR gene in Polish patients with primary open-angle glaucoma
Szaflik J; Ambroziak AM; Bal J; Gacek M; Zekanowski C; Sobczynska A
Klinika Oczna 2000; 102: 5-7
5951 Molecular cloning of the bovine MYOC and induction of its expression in trabecular meshwork cells
Taniguchi F; Suzuki Y; Kurihara H; Kurihara Y; Kasai H; Shirato S; Araie M
Investigative Ophthalmology and Visual Science 2000; 41: 2070-1075
5952 mRNA in situ hybridization of TIGR/MYOC in human trabecular meshwork
Wang X; Johnson DH
Investigative Ophthalmology and Visual Science 2000; 41: 1724-1729
5953 Genome-wide scan for adult onset primary open angle glaucoma
Wiggs JL; Allingham RR; Hossain A; Kern J; Auguste J; DelBono EA; Broomer B; Graham FL; Hauser M; Pericak-Vance M
Human Molecular Genetics 2000; 9: 1109-1117
5954 Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24
Xu H; Acott TS; Wirtz MK
Genomics 2000; 66: 264-273