Choroideremia with Mutation in CHM Gene. Clinical Cases with Literature Review

by I. V. Zolnikova, S. V. Milash, V. V. Kadyshev, A. B. Chernyak, D. V. Levina, R. A. Zinchenko, I. V. Egorova, E. A. Eremeeva, S. Y. Rogova
Published 2019-03-01

Blood-aqueous Barrier Function in a Patient With Choroideremia

by Muh-Shy Chen, Ching-Chung Chang, Tzyy-Chang Ho, Tzu-Hsun Tsai, I-More Fan, Ping-Kang Hou
Published 2010-02-01

Outcome of Full-Thickness Macular Hole Surgery in Choroideremia

by Mays Talib, Leonoor S. Koetsier, Robert E. MacLaren, Camiel J.F. Boon
Published 2017-07-01

Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia

by Kayo Shimizu, Akio Oishi, Maho Oishi, Ken Ogino, Satoshi Morooka, Masako Sugahara, Norimoto Gotoh, Nagahisa Yoshimura
Published 2015-07-01

Multimodal imaging in a case of choroideremia

by Sugandha Goel, Kumar Saurabh, Rupak Roy
Published 2019-01-01

Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies

by Alessandro Abbouda, Filippo Avogaro, Mariya Moosajee, Enzo Maria Vingolo
Published 2021-01-01

Inclusion of PF68 Surfactant Improves Stability of rAAV Titer when Passed through a Surgical Device Used in Retinal Gene Therapy

by Maria I. Patrício, Christopher I. Cox, Clare Blue, Alun R. Barnard, Cristina Martinez-Fernandez de la Camara, Robert E. MacLaren
Published 2020-06-01

A MOLECULAR ANALYSIS OF PROTEIN TRAFFICKING IN THE VERTEBRATE RETINA: IMPLICATIONS FOR INTRAFLAGELLAR TRANSPORT AND DISEASE

by Krock, Bryan L.
Published 2010

A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient

by Siying Liang, Nan Jiang, Shuo Li, Xiaohu Jiang, Dongyi Yu
Published 2017-06-01

Choroidal Vascularity Features in Patients with Choroideremia and Cystoid Spaces

by Claudio Iovino, Valentina Di Iorio, Francesco Testa, Viviana Bombace, Paolo Melillo, Kiran Kumar Vupparaboina, Jay Chhablani, Francesca Simonelli
Published 2021-02-01

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

by Feng-Juan Gao, Guo-Hong Tian, Fang-Yuan Hu, Dan-Dan Wang, Jian-Kang Li, Qing Chang, Fang Chen, Ge-Zhi Xu, Wei Liu, Ji-Hong Wu
Published 2020-06-01

Molecular Therapies for Choroideremia

by Jasmina Cehajic Kapetanovic, Alun R. Barnard, Robert E. MacLaren
Published 2019-09-01

A case study of choroideremia carrier – Use of multi-spectral imaging in highlighting clinical features

by Pravin U. Dugel, Cheryl N. Zimmer, Ayda M. Shahidi
Published 2016-07-01

Latest progress on diagnosis and treatment of choroideremia

by Yan Zhao, Qing-Feng Meng, Yan Teng
Published 2015-12-01

OCT angiography for the diagnosis and management of choroidal neovascularization secondary to choroideremia

by Ratnesh Ranjan, Shishir Verghese, Romit Salian, George J. Manayath, Veerappan R. Saravanan, Venkatapathy Narendran
Published 2021-06-01

Structural and Functional Characteristics of Color Vision Changes in Choroideremia

by Jasleen K. Jolly, Jasleen K. Jolly, Jasleen K. Jolly, Matthew P. Simunovic, Matthew P. Simunovic, Adam M. Dubis, Amandeep S. Josan, Amandeep S. Josan, Anthony G. Robson, Anthony G. Robson, Marco P. Bellini, Edward Bloch, Odysseas Georgiadis, Lyndon da Cruz, Holly Bridge, Robert E. MacLaren, Robert E. MacLaren
Published 2021-10-01

Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia

by Rajani Battu, Nallathambi Jeyabalan, Praveen Murthy, Kavita S Reddy, Jan SAG Schouten, Caroll A Webers
Published 2016-01-01

Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment

by Anna Skorczyk-Werner, Anna Wawrocka, Natalia Kochalska, Maciej Robert Krawczynski
Published 2018-12-01

Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia

by Yang L, Ijaz I, Cheng J, Wei C, Tan X, Khan MA, Fu X, Fu J
Published 2017-12-01

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

by Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere, Ronny Derks, Lonneke Haer-Wigman, Amber den Ouden, Michael Kwint, Luke O’Gorman, Dyon Valkenburg, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Marcel Nelen, Frans P.M. Cremers, Alexander Hoischen, Susanne Roosing
Published 2021-10-01