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3.4.2 Gene studies (159)

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79951 Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma
Medina-Trillo C
PLoS ONE 2019; 14: e0211029
79696 LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant
Morlino S
American Journal of Medical Genetics, Part A 2019; 179: 104-112
79945 Two novel variants in gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients
Waryah YM
International Journal of Ophthalmology 2019; 12: 8-15
79339 Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients
Svidnicki PV
Ophthalmic Genetics 2018; 39: 717-724
79876 Loss of foxc1 in zebrafish reduces optic nerve size and cell number in the retinal ganglion cell layer
Umali J
Vision Research 2019; 156: 66-72
79497 Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China
Zhuang W
PLoS ONE 2018; 13: e0206935
79708 Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma
Lahola-Chomiak AA
Human Molecular Genetics 2019; 28: 1298-1311
79960 The association of mitochondrial DNA haplogroups with POAG in African Americans
Gudiseva HV
Experimental Eye Research 2019; 181: 85-89
80059 The clinical feature of myocilin Y437H mutation in a Chinese family with primary open-angle glaucoma
Lei L
British Journal of Ophthalmology 2019; 0:
79556 Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population
Huang L
Science China Life Sciences 2019; 62: 153-164
79962 Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma
Siggs OM
JAMA ophthalmology 2019; 137: 348-355
79575 Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese
Rong SS
Experimental Eye Research 2019; 180: 129-136
79433 Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma
Marques AM
PLoS ONE 2018; 13: e0207409
80023 Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family
Park DY
Journal of Glaucoma 2019; 28: 357-362
79794 CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma
Coêlho REA
Journal of Glaucoma 2019; 28: 161-164
79497 Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China
Wang S
PLoS ONE 2018; 13: e0206935
79945 Two novel variants in gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients
Iqbal M
International Journal of Ophthalmology 2019; 12: 8-15
80059 The clinical feature of myocilin Y437H mutation in a Chinese family with primary open-angle glaucoma
Li S
British Journal of Ophthalmology 2019; 0:
79433 Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma
Ananina G
PLoS ONE 2018; 13: e0207409
79575 Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese
Lu SY
Experimental Eye Research 2019; 180: 129-136
80023 Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family
Cho SY
Journal of Glaucoma 2019; 28: 357-362
79556 Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population
Chen Y
Science China Life Sciences 2019; 62: 153-164
79962 Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma
Souzeau E
JAMA ophthalmology 2019; 137: 348-355
79960 The association of mitochondrial DNA haplogroups with POAG in African Americans
Pistilli M
Experimental Eye Research 2019; 181: 85-89
79708 Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma
Footz T
Human Molecular Genetics 2019; 28: 1298-1311

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