BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

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]
    of 9.