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Ophthalmic Genetics Volume 38, 2017 - Issue 1: Festschrift Honoring Irene Hussels Maumenee
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Festschrift: Case Report

Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies

Mrinali P. GuptaRetina Service, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USAView further author information
,
Katherine E. TalcottRetina Service, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USAView further author information
,
David Y. KimRetina Service, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USAView further author information
,
Suneet AgarwalDivision of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USAView further author information
&
Shizuo MukaiRetina Service, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USACorrespondence[email protected]
View further author information
Pages 51-60 | Received 29 Sep 2016, Accepted 02 Dec 2016, Published online: 17 Jan 2017

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Jinzi Zhou, Fenghua Chen, Aimin Yan & Xiaobo Xia. (2022) Explore the molecular mechanism of angle-closure glaucoma in elderly patients induced telomere shortening of retinal ganglion cells through oxidative stress. Nucleosides, Nucleotides & Nucleic Acids 41:10, pages 1024-1035.
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Tingyi Liang, Xiang Zhang, Yu Xu & Peiquan Zhao. (2021) Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report. Ophthalmic Genetics 42:1, pages 79-83.
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Articles from other publishers (11)

Patrick Revy, Caroline Kannengiesser & Alison A. Bertuch. (2022) Genetics of human telomere biology disorders. Nature Reviews Genetics 24:2, pages 86-108.
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Birgit M. Govers, Ramon A.C. van Huet, Susanne Roosing, Sander Keijser, Leonoor I. Los, Anneke I. den Hollander & B. Jeroen Klevering. (2023) The genetics and disease mechanisms of rhegmatogenous retinal detachment. Progress in Retinal and Eye Research, pages 101158.
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Surbhi Agrawal, P. Mahesh Shanmugam, Payal Naresh Shah, Divyansh Kailashchandra Mishra & Rajesh Ramanjulu. (2022) The Masquerading Retinopathy of Revesz Syndrome. Ophthalmic Surgery, Lasers and Imaging Retina 53:6, pages 346-348.
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Eric Nudleman, Tatsuo Nagata & Shizuo Mukai. 2022. Albert and Jakobiec's Principles and Practice of Ophthalmology. Albert and Jakobiec's Principles and Practice of Ophthalmology 6715 6735 .
Mamika Asano, Shoko Tsukamoto, Koh-Hei Sonoda & Hiroyuki Kondo. (2021) Revesz syndrome with bilateral retinal detachments successfully treated by pars plana vitrectomy. American Journal of Ophthalmology Case Reports 23, pages 101137.
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Hiroyuki Kondo, Itsuka Matsushita, Tatsuo Nagata, Etsuko Fujihara, Katsuhiro Hosono, Eiichi Uchio, Yoshihiro Hotta & Shunji Kusaka. (2021) Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene . Translational Vision Science & Technology 10:7, pages 18.
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Michael Karremann, Eva Neumaier-Probst, Frank Schlichtenbrede, Fabian Beier, Tim H. Brümmendorf, Friedrich W. Cremer, Peter Bader & Matthias Dürken. (2020) Revesz syndrome revisited. Orphanet Journal of Rare Diseases 15:1.
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Stephanie B. Engelhard, Szilard Kiss & Mrinali P. Gupta. (2020) Retinal manifestations of the neurocutaneous disorders. Current Opinion in Ophthalmology 31:6, pages 549-562.
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Vikram S. Brar, Mariam Nasir, Dev R. Sahni, Jessica Randolph & Natario L. Couser. 2019. Ophthalmic Genetic Diseases. Ophthalmic Genetic Diseases 137 162 .
Ulrich Spandau & Sang Jin KimUlrich Spandau & Sang Jin Kim. 2019. Pediatric Retinal Vascular Diseases. Pediatric Retinal Vascular Diseases 3 13 .
Kareem Moussa, James N. Huang & Anthony T. Moore. (2017) Revesz syndrome masquerading as traumatic retinal detachment. Journal of American Association for Pediatric Ophthalmology and Strabismus 21:5, pages 422-425.e1.
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