These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia. Lin Y, Liu X, Luo L, Qu B, Jiang S, Yang H, Liang X, Ye S, Liu Y. Mol Vis; 2011; 17():2564-9. PubMed ID: 22025891 [Abstract] [Full Text] [Related]
6. Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment. Skorczyk-Werner A, Wawrocka A, Kochalska N, Krawczynski MR. Orphanet J Rare Dis; 2018 Dec 12; 13(1):221. PubMed ID: 30541579 [Abstract] [Full Text] [Related]
8. Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients. Zhou Q, Yao F, Han X, Li H, Yang L, Sui R. Exp Eye Res; 2017 Nov 12; 164():64-73. PubMed ID: 28774736 [Abstract] [Full Text] [Related]
9. New type of mutations in three spanish families with choroideremia. Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, Ayuso C. Invest Ophthalmol Vis Sci; 2008 Apr 12; 49(4):1315-21. PubMed ID: 18385043 [Abstract] [Full Text] [Related]
10. Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene. Contestabile MT, Piane M, Cascone NC, Pasquale N, Ciarnella A, Recupero SM, Chessa L. Mol Vis; 2014 Apr 12; 20():325-33. PubMed ID: 24672218 [Abstract] [Full Text] [Related]
18. Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene. Ben Charfeddine I, Ben Lazreg T, Ben Rayana N, Amara A, Mamaï O, Knani L, Mili A, M'sakni A, Saad A, Ben Hadj Hamida F, Gribaa M. Ann Biol Clin (Paris); 2015 Apr 12; 73(4):469-73. PubMed ID: 26411914 [Abstract] [Full Text] [Related]
19. A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma. Ouyang P, Li Y, Zhang F, Zhu C, Zou B, Le J, Zhang L. Mol Med Rep; 2018 Jun 12; 17(6):7918-7924. PubMed ID: 29620233 [Abstract] [Full Text] [Related]
20. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients. Hayakawa M, Fujiki K, Hotta Y, Ito R, Ohki J, Ono J, Saito A, Nakayasu K, Kanai A, Ishidoh K, Kominami E, Yoshida K, Kim KC, Ohashi H. Ophthalmic Genet; 1999 Jun 12; 20(2):107-15. PubMed ID: 10420196 [Abstract] [Full Text] [Related] Page: [Next] [New Search]