Citations (19)
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Zhihang Cheng, Richard Hagan & Damien C. M. Yeo. (2022) Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis. Ophthalmic Genetics 43:2, pages 253-257.
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Monika K. Grudzinska Pechhacker, Matteo Di Scipio, Anjali Vig, Anupreet Tumber, Nicole Roslin, Erika Tavares, Ajoy Vincent & Elise Hèon. (2020) CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency. Ophthalmic Genetics 41:5, pages 457-464.
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Eman M. Al-Sharif & Arif O. Khan. (2020) Cycloplegic refractions in a cohort with ABCA4-related retinopathy. Ophthalmic Genetics 41:1, pages 96-98.
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Arif O. Khan & Ibraheem A. El-Ghrably. (2019) Overlapping retinal phenotypes in a consanguineous family harboring mutations in CRB1 and RS1. Ophthalmic Genetics 40:1, pages 17-21.
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Articles from other publishers (15)
Nicholas Owen, Maria Toms, Yuan Tian, Lyes Toualbi, Rose Richardson, Rodrigo Young, Dhani Tracey‐White, Pawan Dhami, Stephan Beck & Mariya Moosajee. (2023) Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina. The Journal of Pathology 259:4, pages 441-454.
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Wenhua Duan, Taicheng Zhou, Huawei Jiang, Minhui Zhang, Min Hu & Liwei Zhang. (2022) A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review. BMC Medical Genomics 15:1.
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Jia-Xing Sun, Hong-Xiang Yan, Dan Hu, Jian Zhou, Yu-Sheng Wang, Jing Wu, Xiao-Jin Song & Xu Hou. (2022) Biallelic Heterozygous Mutations in Crumbs Homolog-1 Gene Associated With Macular Retinoschisis and Angle-Closure Glaucoma: A Case Report and Literature Review. Frontiers in Ophthalmology 2.
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Mays Talib, Caroline Van Cauwenbergh, Julie De Zaeytijd, David Van Wynsberghe, Elfride De Baere, Camiel J F Boon & Bart Peter Leroy. (2022)
CRB1
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Mays Talib, Mary J. Schooneveld, Jan Wijnholds, Maria M. Genderen, Nicoline E. Schalij‐Delfos, Herman E. Talsma, Ralph J. Florijn, Jacoline B. Brink, Frans P.M. Cremers, Alberta A.H.J. Thiadens, L. Ingeborgh Born, Carel B. Hoyng, Magda A. Meester‐Smoor, Arthur A. Bergen & Camiel J.F. Boon. (2021)
Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in
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. Acta Ophthalmologica 99:3.
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Yingwei Wang, Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang & Qingjiong Zhang. (2021) Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations. American Journal of Ophthalmology 223, pages 160-168.
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Anogeianakis George A, Loukovitis Eleftherios D, Stoimeni Anastasia A, Tranos Paris G & Koukoula Stavrenia Ch. (2020) Recent Developments on the major genes involved in retinitis pigmentosa. IP International Journal of Ocular Oncology and Oculoplasty 6:3, pages 157-166.
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Arif O. Khan. (2020) PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES. Retina 40:9, pages 1829-1837.
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Juliana Maria Ferraz Sallum, Fabiana Louise Motta, Gavin Arno, Fernanda Belga Ottoni Porto, Rosane Guazi Resende & Rubens BelfortJrJr. (2020) Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 184:3, pages 728-752.
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Mays Talib & Camiel J.F. Boon. (2020) Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations. Asia-Pacific Journal of Ophthalmology 9:3, pages 159-179.
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KaiChing Peter Leung & TakChuen Simon Ko. (2020)
Childhood cone–rod dystrophy with macular cyst formation in
ABCA4
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Krunoslav T. Stingl, Laura Kuehlewein, Nicole Weisschuh, Saskia Biskup, Frans P. M. Cremers, M. Imran Khan, Carina Kelbsch, Tobias Peters, Marius Ueffing, Barbara Wilhelm, Eberhart Zrenner & Katarina Stingl. (2019)
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by
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. Translational Vision Science & Technology 8:6, pages 45.
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Mays Talib, Mary J. van Schooneveld, Maria M. van Genderen, Jan Wijnholds, Ralph J. Florijn, Jacoline B. ten Brink, Nicoline E. Schalij-Delfos, Gislin Dagnelie, Frans P.M. Cremers, Ron Wolterbeek, Marta Fiocco, Alberta A. Thiadens, Carel B. Hoyng, Caroline C. Klaver, Arthur A. Bergen & Camiel J.F. Boon. (2017) Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies. Ophthalmology 124:6, pages 884-895.
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Ryan E Lamont, Wen-Hann Tan, A Micheil Innes, Jillian S Parboosingh, Dina Schneidman-Duhovny, Aleksandar Rajkovic, John Pappas, Pablo Altschwager, Stephanie DeWard, Anne Fulton, Kathryn J Gray, Max Krall, Lakshmi Mehta, Lance H Rodan, Devereux N SallerJrJr, Deanna Steele, Deborah Stein, Svetlana A Yatsenko, François P Bernier & Anne M Slavotinek. (2016) Expansion of phenotype and genotypic data in CRB2-related syndrome. European Journal of Human Genetics 24:10, pages 1436-1444.
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Anne Slavotinek, Julie Kaylor, Heather Pierce, Michelle Cahr, Stephanie J. DeWard, Dina Schneidman-Duhovny, Adnan Alsadah, Fadi Salem, Gabriela Schmajuk & Lakshmi Mehta. (2015) CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein. The American Journal of Human Genetics 96:1, pages 162-169.
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