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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 6, 2023. (Total: 223792Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Glaucoma and PITX2[original query]
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
American journal of human genetics 2002 Feb 70 (2): 448-60.
Vincent Andrea L, Billingsley Gail, Buys Yvonne, Levin Alex V, Priston Megan, Trope Graham, Williams-Lyn Donna, Héon Eli
Molecular basis of Peters anomaly in Saudi Arabia.
Ophthalmic genetics 2004 12 25 (4): 257-70.
Edward Deepak, Al Rajhi Ali, Lewis Richard Alan, Curry Stacey, Wang Zongren, Bejjani Bass
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.
International journal of molecular medicine 2015 Oct 36 (4): 1111-7.
Huang Xiaobo, Xiao Xueshan, Jia Xiaoyun, Li Shiqiang, Li Miaoling, Guo Xiangming, Liu Xing, Zhang Qingjio
Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.
European journal of human genetics : EJHG 2015 Jul .
Medina-Trillo Cristina, Aroca-Aguilar José-Daniel, Méndez-Hernández Carmen-Dora, Morales Laura, García-Antón Maite, García-Feijoo Julián, Escribano Jul
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Current eye research 2018 6 43 (11): 1334-1341.
Wang Xun, Liu Xing, Huang Liqin, Fang Shaohua, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Guo Xiangmi
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
Molecular medicine reports 2018 6 18 (2): 1623-1627.
Syrimis Andreas, Nicolaou Nayia, Alexandrou Angelos, Papaevripidou Ioannis, Nicolaou Michael, Loukianou Eleni, Sismani Carolina, Malas Stavros, Christophidou-Anastasiadou Violetta, Tanteles George
Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma.
PloS one 2019 1 14 (1): e0211029.
Medina-Trillo Cristina, Aroca-Aguilar José-Daniel, Ferre-Fernández Jesús-José, Alexandre-Moreno Susana, Morales Laura, Méndez-Hernández Carmen-Dora, García-Feijoo Julián, Escribano Jul
Genetic analysis of patients with primary congenital glaucoma.
International ophthalmology 2021 Mar .
Ava Sedat, Demirta? At?l?m Arma?an, Karahan Mine, Erdem Seyfettin, Oral Diclehan, Keklikçi U?
Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
Experimental eye research 2022 11 226 109307.
Zhou Lin, Wang Xiaoli, An Jingqi, Zhang Yao, He Mengxia, Tang
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