179 related articles for article (PubMed ID: 26794436)
21. Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients.
Ayuso C; Trujillo MJ; Robledo M; Ramos C; Benitez J; Martín-Osés F; del Rio T; García-Sandoval B
Hum Genet; 1996 Jul; 98(1):51-4. PubMed ID: 8682506
[TBL] [Abstract][Full Text] [Related]
22. A two-stage approach identifies a Q344X mutation in the rhodopsin gene of a Chinese Singaporean family with autosomal dominant retinitis pigmentosa.
Yong RY; Chee CK; Yap EP
Ann Acad Med Singap; 2005 Jan; 34(1):94-9. PubMed ID: 15726226
[TBL] [Abstract][Full Text] [Related]
23. Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity.
Rivera-De la Parra D; Cabral-Macias J; Matias-Florentino M; Rodriguez-Ruiz G; Robredo V; Zenteno JC
Gene; 2013 Apr; 519(1):173-6. PubMed ID: 23402891
[TBL] [Abstract][Full Text] [Related]
24. A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.
Nalbantoglu SM; Shahbazov C; Berdeli A
OMICS; 2012; 16(1-2):18-23. PubMed ID: 22321012
[TBL] [Abstract][Full Text] [Related]
25. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
Dryja TP; McGee TL; Hahn LB; Cowley GS; Olsson JE; Reichel E; Sandberg MA; Berson EL
N Engl J Med; 1990 Nov; 323(19):1302-7. PubMed ID: 2215617
[TBL] [Abstract][Full Text] [Related]
26. Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.
Wu J; Chen L; Tam OS; Huang XF; Pang CP; Jin ZB
Biomed Res Int; 2014; 2014():302487. PubMed ID: 25101269
[TBL] [Abstract][Full Text] [Related]
27. [The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis].
Trujillo MJ; del Río T; Reig C; Benítez J; García Sandoval B; Carballo M; Ayuso C
Med Clin (Barc); 1998 Apr; 110(13):501-4. PubMed ID: 9611733
[TBL] [Abstract][Full Text] [Related]
28. Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online.
Bessant DA; Khaliq S; Hameed A; Anwar K; Payne AM; Mehdi SQ; Bhattacharya SS
Hum Mutat; 1999; 13(1):83. PubMed ID: 10189219
[TBL] [Abstract][Full Text] [Related]
29. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
Berson EL; Grimsby JL; Adams SM; McGee TL; Sweklo E; Pierce EA; Sandberg MA; Dryja TP
Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
[TBL] [Abstract][Full Text] [Related]
30. An unusual retinal phenotype associated with a novel mutation in RHO.
Audo I; Friedrich A; Mohand-Saïd S; Lancelot ME; Antonio A; Moskova-Doumanova V; Poch O; Bhattacharya S; Sahel JA; Zeitz C
Arch Ophthalmol; 2010 Aug; 128(8):1036-45. PubMed ID: 20697005
[TBL] [Abstract][Full Text] [Related]
31. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
Chacon-Camacho OF; Jitskii S; Buentello-Volante B; Quevedo-Martinez J; Zenteno JC
Gene; 2013 Oct; 528(2):178-82. PubMed ID: 23900199
[TBL] [Abstract][Full Text] [Related]
32. Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa.
Richards JE; Kuo CY; Boehnke M; Sieving PA
Ophthalmology; 1991 Dec; 98(12):1797-805. PubMed ID: 1775313
[TBL] [Abstract][Full Text] [Related]
33. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
Martinez-Gimeno M; Maseras M; Baiget M; Beneito M; Antiñolo G; Ayuso C; Carballo M
Hum Mutat; 2001 Jun; 17(6):520. PubMed ID: 11385710
[TBL] [Abstract][Full Text] [Related]
34. Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
Pierrottet CO; Zuntini M; Digiuni M; Bazzanella I; Ferri P; Paderni R; Rossetti LM; Cecchin S; Orzalesi N; Bertelli M
Genet Mol Res; 2014 Oct; 13(4):8815-33. PubMed ID: 25366773
[TBL] [Abstract][Full Text] [Related]
35. Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).
Fujiki K; Hotta Y; Hayakawa M; Sakuma H; Shiono T; Noro M; Sakuma T; Tamai M; Hikiji K; Kawaguchi R
Jpn J Hum Genet; 1992 Jun; 37(2):125-32. PubMed ID: 1391967
[TBL] [Abstract][Full Text] [Related]
36. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.
Dryja TP; McGee TL; Reichel E; Hahn LB; Cowley GS; Yandell DW; Sandberg MA; Berson EL
Nature; 1990 Jan; 343(6256):364-6. PubMed ID: 2137202
[TBL] [Abstract][Full Text] [Related]
37. Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa.
Roshandel D; Rafati M; Khorami S; Novin Baheran N; Jalali S; Tabatabaie R; Rezai S; Ahmadieh H; Ghaffari SR
Int Ophthalmol; 2019 Nov; 39(11):2523-2531. PubMed ID: 30972525
[TBL] [Abstract][Full Text] [Related]
38. A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu.
Ponjavic V; Abrahamson M; Andréasson S; Ehinger B; Fex G; Polland W
Ophthalmic Genet; 1997 Jun; 18(2):63-70. PubMed ID: 9228242
[TBL] [Abstract][Full Text] [Related]
39. Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.
Farrar GJ; Findlay JB; Kumar-Singh R; Kenna P; Humphries MM; Sharpe E; Humphries P
Hum Mol Genet; 1992 Dec; 1(9):769-71. PubMed ID: 1302614
[No Abstract] [Full Text] [Related]
40. Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa.
Fujiki K; Hotta Y; Murakami A; Yoshii M; Hayakawa M; Ichikawa T; Takeda M; Akeo K; Okisaka S; Kanai A
Jpn J Hum Genet; 1995 Sep; 40(3):271-7. PubMed ID: 8527802
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]