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Gottfredsdottir MS, Sverrisson T, Musch DC, Stefansson E: Chronic open-angle glaucoma and associated ophthalmic findings in monozygotic twins and their spouses in Iceland. J Glaucoma 1999, 8:134-139. Population-based twin study comparing homozygotic twins pairs with pairs of one twin and his or her respective spouse. Concordance for POAG was markedly higher for the twin pairs, making the shared environment in older age of the twin-spouse pairs less important than shared hereditary factors for the development of POAG.
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A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region
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Trifan OC, Traboulsi El, Stoilova D, Alozie I, Nguyen R, Raja S, Sarfarazi M: A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol 1998, 126:17-28.
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Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, et al.: Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet 1998, 62:641-652.
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GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36
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17
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Faucher M, Dubois S, Côté G, Anctil JL, Morisette J, Raymond V: Mapping of a gene for adult-onset primary open-angle glaucoma to the GLC1B locus at chromosome 2cen-q13 in a French-Canadian family [ARVO abstract]. Invest Ophthalmol Vis Sci 1999, 40(suppl):S76.
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18
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ASHG abstract
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Kitsos G, Eiberg H, Economou-Petersen E, Wirtz MK, Kramer PL, Aspiotis M, et al.: Genetic linkage of adult onset primary open-angle glaucoma to chromosome 3q in a Greek pedigree [ASHG abstract]. Am J Hum Genet 1999, 65(suppl):A257.
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20
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9844252339
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Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma
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Adam MF, Belmouden A, Binisti P, Brézin AP, Valtot F, Béchetoille A, et al.: Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet 1997, 6:2091-2097.
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Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma
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Stoilova D, Child A, Brice G, Crick RP, Fleck BW, Sarfarazi M: Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma. Ophthalmic Genet 1997, 18:109-118.
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Mansergh FC, Kenna PF, Ayuso C, Kiang A-S, Humphries P, Farrar GJ: Novel mutations in the TIGR gene in early and late onset open angle glaucoma. Hum Mutat 1998, 11:244-251.
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Michels-Rautenstrauss KG, Mardin CY, Budde WM, Liehr T, Polansky J, Nguyen T, et al.: Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis. Hum Genet 1998, 102:103-106.
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Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma
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Wiggs JL, Allingham RR, Vollrath D, Jones KH, De La Paz M, Kern J, et al.: Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma [letter]. Am J Hum Genet 1998, 63:1549-1552.
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A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia
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Angius A, De Gioia E, Loi A, Fossarello M, Sole G, Orzalesi N, et al.: A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia. Arch Ophthalmol 1998, 116:793-797.
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Stoilova D, Child A, Brice G, Desai T, Barsoum-Homsy M, Ozdemir N, et al.: Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. J Med Genet 1998, 35:989-992. Presents mutation analysis of four families with juvenile-onset POAG linked to GLC1A. Although three families carried disease-causing mutations in the MYOC/ TIGR gene, one Turkish family harbored a polymorphism not segregating with the disease phenotype. The authors conclude that either mutations in the promotor region of the MYOC/TIGR gene or in another neighboring gene may be responsible for glaucoma in the Turkish family.
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Richards JE, Ritch R, Lichter PR, Rozsa FW, Stringham HM, Caronia RM, et al.: Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. Ophthalmology 1998, 105:1698-1707.
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GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein
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Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, et al.: GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol Vis 1998, 4:20.
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31
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Allingham RR, Wiggs JL, De La Paz MA, Vollrath D, Tallett DA, Broomer B, et al.: Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 1998, 38:2288-2295.
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A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma
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Kennan AM, Mansergh FC, Fingert JH, Clark T, Ayuso C, Kenna PF, et al.: A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma. J Med Genet 1998, 35:957-960.
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Brézin AP, Adam MF, Belmouden A, Lureau M-A, Chaventré A, Copin B, et al.: Founder effect in GLC1 A-linked familial open-angle glaucoma in Northern France. Am J Med Genet 1998, 76:438-445. Describes 72 patients with POAG from six families with a shared Asn480Lys mutation of the MYOC/TIGR gene and evidence of a common founder. The wide range of the severity in this POAG group may faciliate the research on factors influencing the expressivity of the gene.
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Fingert JH, Héon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, et al.: Analysis of myocilin mutations in 1,703 patients with glaucoma from five different populations. Hum Mol Genet 1999, 8:899-905. Currently the largest analysis of MYOC/TIGR mutations in patients with POAG and control participants. Gives the prevalence of 21 probable glaucoma-causing mutations, 22 probable polymorphisms, and 18 synonymous codon changes of the MYOC/TIGR gene in 11 groups of patients and control participants. These had been recruited from five different populations from three continents. Of the disease-causing mutations, 76% were found in only one population. The overall frequency of disease-causing mutations was similar in all populations (-2% to 4%), including an African-American group. Presents evidence suggesting that a single founder transmitted the Gln368STOP mutation to the 27 POAG probands identified in this study originating from four different populations.
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Hum Mol Genet
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35
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Morissette J, Clépet C, Moisan S, Dubois S, Winstall E, Vermeeren D, et al.: Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma [letter]. Nat Genet 1998, 19:319-321.
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A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma
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Mardin CY, Velten I, Ozbey S, Rautenstrauss B, Michels-Rautenstrauss K: A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma. J Glaucoma 1999, 8:154-156.
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Yoon S-JK, Kim H-S, Moon J-I, Lim JM, Joo C-K: Mutations of the TIGR/ MYOC gene in primary open-angle glaucoma in Korea [letter]. Am J Hum Genet 1999, 64:1775-1778.
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Taniguchi F, Suzuki Y, Shirato S, Ohta S: Clinical phenotype of a Japanese family with primary open angle glaucoma caused by a Pro370Leu mutation in the MYOC/TIGR gene. Jpn J Ophthalmol 1999, 43:80-84.
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Identification of a TIGR gene mutation in random POAG patients in Guatemala
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Perez-Grossman R, Chen H, Klufas M, Nguyen TD, Nguyen N, Hetherington J: Identification of a TIGR gene mutation in random POAG patients in Guatemala [ARVO abstract]. Invest Ophthalmol Vis Sci 1999, 40(suppl):S512.
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