Human Genome Epidemiology Literature Finder
Rare Diseases
|
Records 1 - 12 (of 12 Records) |
| Query Trace: Choroideremia[original query] |
|---|
| Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia. Case reports in ophthalmology 0 6 (2): 246-50. Shimizu Kayo, Oishi Akio, Oishi Maho, Ogino Ken, Morooka Satoshi, Sugahara Masako, Gotoh Norimoto, Yoshimura Nagahi |
| Genetic analysis of choroideremia families in the Australian population. Clinical & experimental ophthalmology 2015 Apr . McLaren Terri L, De Roach John N, Montgomery Hannah, Hoffmann Ling, Kap Caitlyn, Lamey Tina |
| Visual Acuity after Retinal Gene Therapy for Choroideremia. The New England journal of medicine 2016 Apr . Edwards Thomas L, Jolly Jasleen K, Groppe Markus, Barnard Alun R, Cottriall Charles L, Tolmachova Tanya, Black Graeme C, Webster Andrew R, Lotery Andrew J, Holder Graham E, Xue Kanmin, Downes Susan M, Simunovic Matthew P, Seabra Miguel C, MacLaren Robert |
| A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. PloS one 2016 11 (4): e0151943. Sanchez-Alcudia Rocio, Garcia-Hoyos Maria, Lopez-Martinez Miguel Angel, Sanchez-Bolivar Noelia, Zurita Olga, Gimenez Ascension, Villaverde Cristina, Rodrigues-Jacy da Silva Luciana, Corton Marta, Perez-Carro Raquel, Torriano Simona, Kalatzis Vasiliki, Rivolta Carlo, Avila-Fernandez Almudena, Lorda Isabel, Trujillo-Tiebas Maria J, Garcia-Sandoval Blanca, Lopez-Molina Maria Isabel, Blanco-Kelly Fiona, Riveiro-Alvarez Rosa, Ayuso Carm |
| Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities. Investigative ophthalmology & visual science 2015 Dec 56 (13): 8158-65. Zhang Alice Yang, Mysore Naveen, Vali Hojatollah, Koenekoop Jamie, Cao Sang Ni, Li Shen, Ren Huanan, Keser Vafa, Lopez-Solache Irma, Siddiqui Sorath Noorani, Khan Ayesha, Mui Jeannie, Sears Kelly, Dixon Jim, Schwartzentruber Jeremy, Majewski Jacek, Braverman Nancy, Koenekoop Robert |
| Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment. Orphanet journal of rare diseases 2018 12 13 (1): 221. Skorczyk-Werner Anna, Wawrocka Anna, Kochalska Natalia, Krawczynski Maciej Robe |
| Spectrum of Disease Severity and Phenotype in Choroideremia Carriers. American journal of ophthalmology 2019 6 207 77-86. Jauregui Ruben, Park Karen Sophia, Tanaka Akemi J, Cho Ahra, Paavo Maarjaliis, Zernant Jana, Francis Jasmine H, Allikmets Rando, Sparrow Janet R, Tsang Stephen |
| CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia. Investigative ophthalmology & visual science 2019 4 60 (5): 1547-1555. Di Iorio Valentina, Esposito Gabriella, De Falco Francesca, Boccia Rosa, Fioretti Tiziana, Colucci Raffaella, De Rosa Giuseppe, Melillo Paolo, Salvatore Francesco, Simonelli Francesca, Testa Frances |
| Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose. JAMA ophthalmology 2019 12 138 (2): 128-135. Fry Lewis E, Patrício Maria I, Williams Jonathan, Aylward James W, Hewitt Harriet, Clouston Penny, Xue Kanmin, Barnard Alun R, MacLaren Robert |
| Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families. Scientific reports 2020 9 10 (1): 15883. Hayashi Takaaki, Kameya Shuhei, Mizobuchi Kei, Kubota Daiki, Kikuchi Sachiko, Yoshitake Kazutoshi, Mizota Atsushi, Murakami Akira, Iwata Takeshi, Nakano Tadas |
| Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants. Human genome variation 2020 10 7 35. McLaren Terri L, De Roach John N, Thompson Jennifer A, Chen Fred K, Mackey David A, Hoffmann Ling, Urwin Isabella R, Lamey Tina |
| Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa. Journal of Korean medical science 2022 1 37 (3): e5. Kim Jin Ha, Han Jung Woo, Choi Eun Woo, Bang Ji Hong, Shin Hee Jeong, Jang Mi-Ae, Lee Jong-Young, Choi Jeong Nam, Chang Hun Soo, Park Tae Kwa |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 25, 2023
- Content source: