Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 100 Records) |
| Query Trace: Glaucoma and CYP1B1[original query] |
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| Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin. Clinical ophthalmology (Auckland, N.Z.) 2018 8 12 1413-1416. Abu-Amero Khaled K, Sultan Tahira, Al-Obeidan Saleh A, Kondkar Altaf |
| Clinical variability of CYP1B1 gene variants in Pakistani primary congenital glaucoma families. JPMA. The Journal of the Pakistan Medical Association 2018 8 68 (8): 1205-1211. Bashir Rasheeda, Yousaf Khazeema, Tahir Hafsa, Sanai Marukh, Qayyum Seema, Naz Shagufta, Naz Sad |
| Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients. Bioscience reports 2018 6 38 (4): . Ou Zhiying, Liu Guangjian, Liu Wenping, Deng Yehua, Zheng Ling, Zhang Shu, Feng Guangqia |
| A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family. International journal of ophthalmology 2018 3 11 (3): 369-374. Yao Yi-Hua, Wang Ya-Qin, Fang Wei-Fang, Zhang Liu, Yang Ju-Hua, Zhu Yi-H |
| Congenital glaucoma and CYP1B1: an old story revisited. Human genetics 2018 3 138 (8-9): 1043-1049. Alsaif Hessa S, Khan Arif O, Patel Nisha, Alkuraya Hisham, Hashem Mais, Abdulwahab Firdous, Ibrahim Niema, Aldahmesh Mohammed A, Alkuraya Fowzan |
| 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 |
| CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma. Journal of glaucoma 2018 12 28 (2): 161-164. Coêlho Rodrigo E A, Sena Dayse R, Santa Cruz Fernando, Moura Bárbara C F S, Han Cristal C, Andrade Flaviano N, Lira Rodrigo P |
| 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 |
| P.Gly61Glu and P.Arg368His Mutations in CYP1B1 that Cause Congenital Glaucoma may be Relatively Frequent in Certain Regions of Gilan Province, Iran. Journal of ophthalmic & vision research 2018 11 13 (4): 403-410. Qashqai Mansoure, Suri Fatemeh, Yaseri Mehdi, Elahi Ela |
| 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 |
| Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype. International journal of ophthalmology 2019 12 (6): 909-914. Song Na, Leng Lin, Yang Xue-Jiao, Zhang Yu-Qing, Tang Chun, Chen Wen-Shi, Zhu Wei, Yang Xi |
| Cataract extraction in patients with primary congenital glaucoma. European journal of ophthalmology 2019 4 30 (3): 525-532. Morales-Fernández Laura, Martínez-de-la-Casa José María, Benito-Pascual Blanca, Saénz-Francés Federico, Santos-Bueso Enrique, Arriola-Villalobos Pedro, Escribano-Martínez Julio, García-Feijoo Juli |
| Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma. International journal of ophthalmology 2019 4 12 (4): 607-614. Khafagy Mohamed M, El-Guendy Nadia, Tantawy Marwa A, Eldaly Mohamed A, Elhilali Hala M, Abdel Wahab Abdel Hady |
| Clinical application of NGS-based SNP haplotyping for the preimplantation genetic diagnosis of primary open angle glaucoma. Systems biology in reproductive medicine 2019 4 65 (3): 258-263. Ji Xingzhe, Zhang Zhou, Shi Juanzi, He B |
| Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients. Molecular biology research communications 2019 2 7 (4): 181-186. Kaur Avneet, Vanita Vanita, Singh JaiR |
| 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 |
| Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. Ophthalmology 2020 2 127 (6): 758-766. Siggs Owen M, Souzeau Emmanuelle, Taranath Deepa A, Dubowsky Andrew, Chappell Angela, Zhou Tiger, Javadiyan Shari, Nicholl Jillian, Kearns Lisa S, Staffieri Sandra E, Narita Andrew, Smith James E H, Pater John, Hewitt Alex W, Ruddle Jonathan B, Elder James E, Mackey David A, Burdon Kathryn P, Craig Jamie |
| CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma. The British journal of ophthalmology 2021 9 107 (2): 227-233. Kaushik Sushmita, Luthra-Guptasarma Manni, Prasher Dimple, Dhingra Deepika, Singh Nirbhai, Kumar Aman, Sharma Surya Prakash, Kaur Harpreet, Snehi Sagarika, Thattaruthody Faisal, Pandav Surinder Sin |
| Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients. European journal of ophthalmology 2021 5 31 (6): 2796-2807. Haddad Amine, Ait Boujmia Oum Kaltoum, El Maaloum Loubna, Dehbi Hi |
| 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? |
| Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran. Journal of ophthalmic & vision research 0 16 (4): 574-581. Heshmati Ali, Taghizadeh Peyman, Ahmadieh Hamid, Yaseri Mehdi, Suri Fatemeh, Alizadeh Mahsa, Dadashzadeh Marjan, Khatami Hajar, Navi Monireh Moradkhah, Zamanparvar Parisa, Behboudi Hassan, Elahi Ela |
| 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 |
| Exome-based mutation screening in South African children with primary congenital glaucoma. Eye (London, England) 2022 Jan . Carstens Nadia, Goolam Saadiah, Hulley Michaella, Brandenburg Jean-Tristan, Ramsay Michele, Williams Susan Eileen Isabel |
| Neonatal-Onset Congenital Ectropion Uveae May Be Caused by a Distinct CYP1B1 Pathologic Variant. American journal of ophthalmology 2022 1 239 54-65. Kaushik Sushmita, Choudhary Sandeep, Kaur Anupriya, Srivastava Priyanka, Pokharel Bikrant, Akella Madhuri, Pandav Surinder Sin |
| First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association. Journal of clinical medicine 2022 1 11 (1): . Stingl Julia V, Diederich Stefan, Diel Heidi, Schuster Alexander K, Wagner Felix M, Chronopoulos Panagiotis, Aghayeva Fidan, Grehn Franz, Winter Jennifer, Schweiger Susann, Hoffmann Esther |
| Mutational analysis of CYP1B1 (rs56010818) variant in primary open angle glaucoma (POAG) affected patients of Pakistan. Saudi journal of biological sciences 2022 1 29 (1): 96-101. Narsani Ashok Kumar, Waryah Ali Muhammad, Rafiq Muhammad, Shaikh Hina, Naqvi Syed Habib Ahmed, Kumar Raveet, Kumar Paw |
| Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma. Pakistan journal of medical sciences 2023 3 39 (2): 409-416. Zahid Tazeen, Khan Muhammad Umer, Zulfiqar Aymn, Jawad Fatima, Saleem Anosh, Khan Ahmad Ra |
| Corrigendum: Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients. European journal of ophthalmology 2023 2 11206721231156301. Authors are not available |
| Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 2023 2 14 (2): . Yousaf Khazeema, Naz Sadaf, Mushtaq Asma, Wohler Elizabeth, Sobreira Nara, Ho Bo-Man, Chen Li-Jia, Chu Wai-Kit, Bashir Rashee |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 29, 2023
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