Open angle glaucoma 1

Kitsos G et al. (2001) Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.

Wiggs JL et al. (2004) A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12.

Gould DB et al. (2004) Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma.

Zillig M et al. (2005) Overexpression and properties of wild-type and Tyr437His mutated myocilin in the eyes of transgenic mice.

Baird PN et al. (2005) Evidence for a novel glaucoma locus at chromosome 3p21-22.

Gould DB et al. (2006) Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma.

Hewitt AW et al. (2007) The optic nerve head in myocilin glaucoma.

Shepard AR et al. (2007) Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.

Wirtz MK et al. (2007) Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

Bhattacharjee A et al. (2007) Myocilin variants in Indian patients with open-angle glaucoma.

Kwon YH et al. (2009) Primary open-angle glaucoma.

Stoilova D et al. (1996) Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region.

Trifan OC et al. (1998) A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region.

Avramopoulos D et al. (1996) Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31.

Wirtz MK et al. (1997) Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

Sripriya S et al. (2004) Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients.

Samples JR et al. (2004) Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis.

Frezzotti P et al. (2011) Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.

Suriyapperuma SP et al. (2007) A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region.

Allingham RR et al. (2005) Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.

Wang DY et al. (2004) Absence of myocilin and optineurin mutations in a large Philippine family with juvenile onset primary open angle glaucoma.

Pang CP et al. (2006) A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.

Fan BJ et al. (2007) Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene.

Wang DY et al. (2006) A genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q.

Bennett SR et al. (1989) An autosomal dominant form of low-tension glaucoma.

None (1961) Pseudoglaucoma of autosomal, dominant inheritance. A report on three families.

Fingert JH et al. (2011) Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

Kawase K et al. (2012) Confirmation of TBK1 duplication in normal tension glaucoma.

Fingert JH et al. (2014) TBK1 and flanking genes in human retina.

Awadalla MS et al. (2015) Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.

Wiggs JL et al. (1996) The distinction between juvenile and adult-onset primary open-angle glaucoma.

Liu Y et al. (2010) No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma.

Alward WL et al. (1998) Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

Vincent AL et al. (2002) Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

Monemi S et al. (2005) Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

Fingert JH et al. (2007) No association between variations in the WDR36 gene and primary open-angle glaucoma.

Pasutto F et al. (2008) Profiling of WDR36 missense variants in German patients with glaucoma.

Wiggs JL et al. (2000) Genome-wide scan for adult onset primary open angle glaucoma.

Lotufo D et al. (1989) Juvenile glaucoma, race, and refraction.

Graff C et al. (1995) Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity.

Morissette J et al. (1995) A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q.

Wiggs JL et al. (1994) Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees.

Richards JE et al. (1994) Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.

Johnson AT et al. (1993) Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma.

Sheffield VC et al. (1993) Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.

Pasutto F et al. (2009) Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.

Johnson AT et al. (1996) Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q.

Richards JE et al. (1996) Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma.

None (1996) Number of people with glaucoma worldwide.

Stone EM et al. (1997) Identification of a gene that causes primary open angle glaucoma.

Wiggs JL et al. (1995) Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31.

Belmouden A et al. (1997) Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25.

Brézin AP et al. (1997) Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.

None (1998) The search for glaucoma genes--implications for pathogenesis and disease detection.

Yoon SJ et al. (1999) Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea.

Craig JE et al. (2001) Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

Wiggs JL et al. (2001) Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC.

CROMBIE AL et al. (1964) HEREDITARY GLAUCOMA OCCURRENCE IN FIVE GENERATIONS OF AN EDINBURGH FAMILY.

None (1965) THE INHERITANCE OF GLAUCOMA. A PEDIGREE OF FAMILIAL GLAUCOMA.