Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Blindness and CYP1B1[original query] |
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Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma. Clinical genetics 2010 Jan 77 (1): 70-8. López-Garrido M-P, Blanco-Marchite C, Sánchez-Sánchez F, López-Sánchez E, Chaqués-Alepuz V, Campos-Mollo E, Salinas-Sánchez A S, Escribano |
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. Human molecular genetics 2010 Oct 19 (20): 4083-90. Chakrabarti Subhabrata, Ghanekar Yashoda, Kaur Kiranpreet, Kaur Inderjeet, Mandal Anil K, Rao Kollu N, Parikh Rajul S, Thomas Ravi, Majumder Partha |
Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma. Eye (London, England) 2012 Oct 26 (10): 1369-77. Su C-C, Liu Y-F, Li S-Y, Yang J-J, Yen Y |
Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma. Molecular vision 2011 17 3583-90. Lee Ji Hyun, Ki Chang-Seok, Kim Hee-Jung, Suh Wool, Lee Seung-Tae, Kim Jong-Won, Kee Changw |
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent. Human genome variation 2016 3 16021. Rauf Bushra, Irum Bushra, Kabir Firoz, Firasat Sabika, Naeem Muhammad Asif, Khan Shaheen N, Husnain Tayyab, Riazuddin Sheikh, Akram Javed, Riazuddin S Am |
Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2. Congenital anomalies 2018 Sep . Afzal Rabia, Firasat Sabika, Kaul Haiba, Ahmed Bashir, Siddiqui Sorath N, Zafar Saemah N, Shahzadi Misbah, Afshan Kir |
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma. Molecular vision 2019 25 373-381. Hadrami Mouna, Bonnet Crystel, Zeitz Christina, Veten Fatimetou, Biya Med, Hamed Cheikh T, Condroyer Christel, Wang Panfeng, Sidi Med Mahmoud, Cheikh Sidi, Zhang Qingjiong, Audo Isabelle, Petit Christine, Houmeida Ahm |
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 |
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- Page last updated:Apr 22, 2024
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