HuGE Literature Finder
Records 1-30
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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 |
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Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.
Scientific reports 2018 Mar 8 (1): 4498. Huang Chukai, Xie Lijing, Wu Zhenggen, Cao Yingjie, Zheng Yuqian, Pang Chi-Pui, Zhang Mingz |
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Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients.
Ophthalmic genetics 2018 12 39 (6): 717-724. Svidnicki Paulo Vinicius, Braghini Carolina Ayumi, Costa Vital Paulino, Schimiti Rui Barroso, de Vasconcellos José Paulo Cabral, de Melo Mônica Barbo |
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Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2017 Nov . Gupta Viney, Somarajan Bindu I, Walia Gagandeep Kaur, Kaur Jasbir, Kumar Sunil, Gupta Shikha, Chaurasia Abadh K, Gupta Dinesh, Kaushik Abhinav, Mehta Aditi, Gupta Vipin, Sharma Arundha |
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CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
Journal of glaucoma 2016 Dec 25 (12): 926-930. Grønskov Karen, Redó-Riveiro Alba, Sandfeld Lisbeth, Zibrandtsen Nathalie, Harris Pernille, Bach-Holm Daniella, Tümer Zeyn |
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CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients.
Ophthalmic genetics 2016 Jun 1-3. Simões M J, Carmona S, Roberts R, Wainwright G, Faro C, Silva E, Egas |
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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 |
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Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Molecular vision 2016 22 1229-1238. Reis Linda M, Tyler Rebecca C, Weh Eric, Hendee Kathryn E, Kariminejad Ariana, Abdul-Rahman Omar, Ben-Omran Tawfeg, Manning Melanie A, McCarty Catherine A, Kitchner Terrie E, Costakos Deborah, Semina Elena |
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Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma.
Molecular vision 2016 22 528-35. Chen Xueli, Chen Yuhong, Fan Bao Jian, Xia Mingying, Wang Li, Sun Xinghu |
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[Construction of CYP1B1 gene haplotypes predisposing to primary congenital glaucoma through allele-specific PCR/restriction fragment length polymorphism analysis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Dec 32 (6): 780-4. Zhang Aiping, Li Shengjie, Ouyang Qi, Tang Li, Wang Xiaolei, Ji Jian, Cao Wenj |
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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 |
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CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.
Ophthalmic genetics 2015 Jun 36 (2): 184-7. Abu-Amero Khaled K, Morales Jose, Aljasim Leyla A, Edward Deepak |
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CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glaucoma.
European journal of ophthalmology 2015 Apr 0. Cardoso Mariana S, Anjos Rita, Vieira Luísa, Ferreira Cristina, Xavier Ana, Brito Cristi |
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Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients.
Journal of glaucoma 2015 Jan . Yazdani Shahin, Miraftabi Arezoo, Pakravan Mohammad, Ghahari Elham, Tousi Betsabeh K, Sedigh Massih, Yaseri Mehdi, Elahi Ela |
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CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma.
Molecular vision 2015 21 160-4. Souzeau Emmanuelle, Hayes Melanie, Ruddle Jonathan B, Elder James E, Staffieri Sandra E, Kearns Lisa S, Mackey David A, Zhou Tiger, Ridge Bronwyn, Burdon Kathryn P, Dubowsky Andrew, Craig Jamie |
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Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.
PloS one 2015 10 (5): e0127147. de Melo Mônica Barbosa, Mandal Anil K, Tavares Ivan M, Ali Mohammed Hasnat, Kabra Meha, de Vasconcellos José Paulo Cabral, Senthil Sirisha, Sallum Juliana M F, Kaur Inderjeet, Betinjane Alberto J, Moura Christiane R, Paula Jayter S, Costa Karita A, Sarfarazi Mansoor, Paolera Mauricio Della, Finzi Simone, Ferraz Victor E F, Costa Vital P, Belfort Rubens, Chakrabarti Subhabra |
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DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.
Investigative ophthalmology & visual science 2014 Dec 55 (12): 8251-8. Liu Yutao, Garrett Melanie E, Yaspan Brian L, Bailey Jessica Cooke, Loomis Stephanie J, Brilliant Murray, Budenz Donald L, Christen William G, Fingert John H, Gaasterland Douglas, Gaasterland Terry, Kang Jae H, Lee Richard K, Lichter Paul, Moroi Sayoko E, Realini Anthony, Richards Julia E, Schuman Joel S, Scott William K, Singh Kuldev, Sit Arthur J, Vollrath Douglas, Weinreb Robert, Wollstein Gadi, Zack Donald J, Zhang Kang, Pericak-Vance Margaret A, Haines Jonathan L, Pasquale Louis R, Wiggs Janey L, Allingham R Rand, Ashley-Koch Allison E, Hauser Michael |
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Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).
Transactions of the American Ophthalmological Society 2014 Jul 112 94-102. Wiggs Janey L, Langgurth Anne M, Allen Keri |
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Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.
Investigative ophthalmology & visual science 2014 Jun 55 (6): 3594-602. Huang Xiaobo, Li Miaoling, Guo Xiangming, Li Shiqiang, Xiao Xueshan, Jia Xiaoyun, Liu Xing, Zhang Qingjio |
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CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment.
The British journal of ophthalmology 2014 Feb 98 (2): 246-51. Chen Xueli, Chen Yuhong, Wang Li, Jiang Deke, Wang Wenzhang, Xia Mingying, Yu Long, Sun Xinghu |
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CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.
BMC medical genetics 2014 15 109. Badeeb Osama M, Micheal Shazia, Koenekoop Robert K, den Hollander Anneke I, Hedrawi Manal |
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Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.
Ophthalmology 2013 Apr 120 (4): 716-23. López-Garrido María-Pilar, Medina-Trillo Cristina, Morales-Fernandez Laura, Garcia-Feijoo Julián, Martínez-de-la-Casa José-María, García-Antón Maite, Escribano Jul |
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Association of eNOS polymorphisms with primary angle-closure glaucoma.
Investigative ophthalmology & visual science 2013 Mar 54 (3): 2108-14. Awadalla Mona S, Thapa Suman S, Hewitt Alex W, Craig Jamie E, Burdon Kathryn |
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Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Molecular vision 2013 19 1707-22. Millá Elena, Mañé Begoña, Duch Susana, Hernan Imma, Borràs Emma, Planas Ester, Dias Miguel de Sousa, Carballo Miguel, Gamundi María José, |
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Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population.
Experimental eye research 2012 Nov . Buentello-Volante B, Elizondo-Olascoaga C, Miranda-Duarte A, Guadarrama-Vallejo D, Cabral-Macias J, Zenteno JC |
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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 |
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A clinical and molecular genetics study of primary congenital glaucoma in South Korea.
The British journal of ophthalmology 2012 Sep . Suh W, Kee C |
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No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis.
Molecular vision 2012 18 786-96. Dong Shuqian, Yang Jingyun, Yu Weihong, Kota Pravina, Xia Xiaobo, Xu Huizh |
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Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma.
Journal of glaucoma 0 24 (4): 297-305. Berraho Amina, Serrou Aziza, Fritez Nabila, El Annas Abdessamad, Bencherifa Fatiha, Gaboun Fatima, Hilal Lati |
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Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.
Clinical & experimental ophthalmology 0 43 (1): 31-9. Micheal Shazia, Ayub Humaira, Zafar Saemah N, Bakker Bjorn, Ali Mahmood, Akhtar Farah, Islam Farrah, Khan Muhammad I, Qamar Raheel, den Hollander Anneke |
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- Page last updated:Nov 27, 2020
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