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7. The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype. Simunovic MP; Jolly JK; Xue K; Edwards TL; Groppe M; Downes SM; MacLaren RE Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6033-6039. PubMed ID: 27820636 [TBL] [Abstract][Full Text] [Related]
8. Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. de Castro-Miró M; Tonda R; Marfany G; Casaroli-Marano RP; Gonzàlez-Duarte R Br J Ophthalmol; 2018 Oct; 102(10):1378-1386. PubMed ID: 29367200 [TBL] [Abstract][Full Text] [Related]
9. Clinical findings in a carrier of a new mutation in the choroideremia gene. Potter MJ; Wong E; Szabo SM; McTaggart KE Ophthalmology; 2004 Oct; 111(10):1905-9. PubMed ID: 15465555 [TBL] [Abstract][Full Text] [Related]
10. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Poloschek CM; Kloeckener-Gruissem B; Hansen LL; Bach M; Berger W Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):4096-104. PubMed ID: 18487380 [TBL] [Abstract][Full Text] [Related]
11. 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; 73(4):469-73. PubMed ID: 26411914 [TBL] [Abstract][Full Text] [Related]
12. A clinical molecular genetic service for United Kingdom families with choroideraemia. Ramsden SC; O'Grady A; Fletcher T; O'Sullivan J; Hart-Holden N; Barton SJ; Hall G; Moore AT; Webster AR; Black GC Eur J Med Genet; 2013 Aug; 56(8):432-8. PubMed ID: 23811034 [TBL] [Abstract][Full Text] [Related]
13. Choroideremia in a Woman With Turner Syndrome. Cheng JL; Farnsworth K; Bernstein PS JAMA Ophthalmol; 2018 Sep; 136(9):1076-1078. PubMed ID: 29978195 [No Abstract] [Full Text] [Related]
14. [Central areolar choroid dystrophy. Report of involvement of 3 generations]. Hutter H; Marquardt R Klin Monbl Augenheilkd; 1989 Sep; 195(3):177-80. PubMed ID: 2811180 [TBL] [Abstract][Full Text] [Related]
15. CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1. Sengillo JD; Lee W; Bakhoum MF; Cho GY; Chiang JP; Tsang SH Retin Cases Brief Rep; 2018 Fall; 12 Suppl 1(Suppl 1):S67-S71. PubMed ID: 29045269 [TBL] [Abstract][Full Text] [Related]
16. Choroideremia: a review of general findings and pathogenesis. Coussa RG; Traboulsi EI Ophthalmic Genet; 2012 Jun; 33(2):57-65. PubMed ID: 22017263 [TBL] [Abstract][Full Text] [Related]
18. Prenatal exclusion of choroideremia. van den Hurk JA; van Zandvoort PM; Brunsmann F; Pawlowitzki IH; Holzgreve W; Szabo P; Cremers FP; van Oost BA Am J Med Genet; 1992 Dec; 44(6):822-3. PubMed ID: 1362326 [TBL] [Abstract][Full Text] [Related]
19. [Clinical and genetic features of choroideremia]. Ohba N; Isashiki Y Nippon Ganka Gakkai Zasshi; 1999 Nov; 103(11):773-81. PubMed ID: 10589235 [TBL] [Abstract][Full Text] [Related]
20. Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers. Kärnä J Acta Ophthalmol Suppl (1985); 1986; 176():1-68. PubMed ID: 3014804 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]