Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 101 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 |
| 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 |
| Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals. Japanese journal of ophthalmology 2024 8 . Nobuo Fuse, Masae Kimura, Ai Shimizu, Seizo Koshiba, Teruhiko Hamanaka, Makoto Nakamura, Nobuo Ishida, Hiroshi Sakai, Yoko Ikeda, Kazuhiko Mori, Atsushi Endo, Masao Nagasaki, Fumiki Katsuoka, Jun Yasuda, Yoichi Matsubara, Toru Nakazawa, Masayuki Yamamo |
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