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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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Bojana Radojevic, Kaylie Jones, Martin Klein, Margarita Mauro-Herrera, Ronald Kingsley, David G. Birch & Lea D. Bennett. (2021) Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1. Ophthalmic Genetics 42:1, pages 15-22.
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Yuhong Gan, Xiongze Zhang, Ling Chen & Feng Wen. (2020) Intraretinal Cystoid Spaces in Regression of Punctate Inner Choroidopathy Lesions. Ocular Immunology and Inflammation 28:6, pages 938-946.
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Nutsuchar Wangtiraumnuay, Waleed Abed Alnabi, Mai Tsukikawa, Avrey Thau, Jenina Capasso, Reuven Sharony, Chris F. Inglehearn & Alex V. Levin. (2018) Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations. Ophthalmic Genetics 39:3, pages 384-390.
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Articles from other publishers (17)
Rodrigo Manuel Robalo Curado Vilares Morgado, Ana Margarida Ferreira, Renato Santos-Silva, Rita Quental, Angela Carneiro & Sérgio Estrela-Silva. (2023) Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy. Case Reports in Ophthalmology, pages 519-527.
Crossref
Crossref
Maria Toms, Natasha Ward & Mariya Moosajee. (2023) Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease. Genes 14:7, pages 1325.
Crossref
Crossref
Masood Naseripour, Sara Hemmati, Samira Chaibakhsh, Arzhang Gordiz, Leila Miri & Fatemeh Abdi. (2022) Cystoid macular oedema without leakage in fluorescein angiography: a literature review. Eye 37:8, pages 1519-1526.
Crossref
Crossref
Malena Daich Varela, Michalis Georgiou, Yahya Alswaiti, Jamil Kabbani, Kaoru Fujinami, Yu Fujinami-Yokokawa, Shaheeni Khoda, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Alaa AlTalbishi & Michel Michaelides. (2023) CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. American Journal of Ophthalmology 246, pages 107-121.
Crossref
Crossref
Luis Felipe L. P. Marinho, Laurence M. Occelli, Mariza Bortolini, Kelian Sun, Paige A. Winkler, Fabiano Montiani‐Ferreira & Simon M. Petersen‐Jones. (2021) Development of retinal bullae in dogs with progressive retinal atrophy. Veterinary Ophthalmology 25:2, pages 109-117.
Crossref
Crossref
Marco Nassisi, Vasily M. Smirnov, Cyntia Solis Hernandez, Saddek Mohand‐Saïd, Christel Condroyer, Aline Antonio, Laura Kühlewein, Melanie Kempf, Susanne Kohl, Bernd Wissinger, Fadi Nasser, Sara D. Ragi, Nan‐Kai Wang, Janet R. Sparrow, Vivienne C. Greenstein, Stylianos Michalakis, Omar A. Mahroo, Rola Ba‐Abbad, Michel Michaelides, Andrew R. Webster, Simona Degli Esposti, Brooke Saffren, Jenina Capasso, Alex Levin, William W. Hauswirth, Claire‐Marie Dhaenens, Sabine Defoort‐Dhellemmes, Stephen H. Tsang, Eberhart Zrenner, Jose‐Alain Sahel, Simon M. Petersen‐Jones, Christina Zeitz & Isabelle Audo. (2021)
CNGB1
‐related rod‐cone dystrophy: A mutation review and update
. Human Mutation 42:6, pages 641-666.
Crossref
Crossref
Luis Alonso Gonzalez-Gonzalez, Hannah Scanga, Elias Traboulsi & Ken K Nischal. (2021)
Novel clinical presentation of a
CRX
rod-cone dystrophy
. BMJ Case Reports 14:4, pages e233711.
Crossref
Crossref
Matthew P. Quinn, Leslie D. MacKeen, Ajoy Vincent & Yi Ning J. Strube. (2021) Early ocular findings in Cohen syndrome: case report and Canadian survey study. Canadian Journal of Ophthalmology 56:1, pages e26-e28.
Crossref
Crossref
Klaudia Rakusiewicz, Krystyna Kanigowska, Wojciech Hautz, Dorota Wicher, Marlena Młynek, Marta Wyszyńska, Anna Rogowska, Joanna Jędrzejczak-Młodziejewska, Małgorzata Danowska & Agnieszka Czeszyk. (2021) Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome. Open Medicine 16:1, pages 156-160.
Crossref
Crossref
Saoud Al-khuzaei, Suzanne Broadgate, Stephanie Halford, Jasleen K. Jolly, Morag Shanks, Penny Clouston & Susan M. Downes. (2020) Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients. Genes 11:11, pages 1288.
Crossref
Crossref
Laura C. Huang, John P. Kelly, Michelle T. Cabrera, Lisa C. Olmos de Koo, Avery H. Weiss & Erin P. Herlihy. (2020) Optical coherence tomography findings in Cohen syndrome. Journal of American Association for Pediatric Ophthalmology and Strabismus 24:5, pages 306-309.
Crossref
Crossref
KaiChing Peter Leung & TakChuen Simon Ko. (2020)
Childhood cone–rod dystrophy with macular cyst formation in
ABCA4
mutation identified by serial spectral-domain optical coherence tomography
. Taiwan Journal of Ophthalmology 0:0, pages 0.
Crossref
Crossref
F. Nasser, S. Kohl, L. Kuehlewein, B. Wissinger, C. D. Obermaier, A. Kurtenbach & E. Zrenner. (2019) A case of X-linked retinoschisis with atypical fundus appearance. Documenta Ophthalmologica 139:1, pages 75-81.
Crossref
Crossref
Kinley D. Beck, Robert W. Wong, James B. Gibson & C. Armitage HarperIIIIII. (2019) Nonleaking cystoid macular edema in Cohen syndrome. Journal of American Association for Pediatric Ophthalmology and Strabismus 23:1, pages 38-39.e1.
Crossref
Crossref
Vittoria Murro, Dario Pasquale Mucciolo, Andrea Sodi, Ilaria Passerini, Dario Giorgio, Gianni Virgili & Stanislao Rizzo. (2018) Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy. Graefe's Archive for Clinical and Experimental Ophthalmology 257:1, pages 9-22.
Crossref
Crossref
Marina França Dias, Kwangsic Joo, Jessica A. Kemp, Silvia Ligório Fialho, Armando da Silva CunhaJr.Jr., Se Joon Woo & Young Jik Kwon. (2018) Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives. Progress in Retinal and Eye Research 63, pages 107-131.
Crossref
Crossref
Alessandro Abbouda, Wei Sing Lim, Lina Sprogyte, Andrew R. Webster & Mariya Moosajee. (2017) Quantitative and Qualitative Features of Spectral-Domain Optical Coherence Tomography Provide Prognostic Indicators for Visual Acuity in Patients With Choroideremia. Ophthalmic Surgery, Lasers and Imaging Retina 48:9, pages 711-716.
Crossref
Crossref