BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 35246075)

  • 21. Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
    Oishi A; Akimoto M; Kawagoe N; Mandai M; Takahashi M; Yoshimura N
    Am J Ophthalmol; 2007 Sep; 144(3):475-7. PubMed ID: 17765441
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.
    Sergouniotis PI; Davidson AE; Sehmi K; Webster AR; Robson AG; Moore AT
    Eye (Lond); 2011 Aug; 25(8):1098-101. PubMed ID: 21494281
    [No Abstract]   [Full Text] [Related]  

  • 23. A 5-year-old Syrian female was born with Oguchi disease: a rare case report.
    Habeeb R; Baba M; Bazkke B; Zazo A; Marashi A
    Ann Med Surg (Lond); 2023 Apr; 85(4):918-921. PubMed ID: 37113844
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene.
    Nakazawa M; Wada Y; Fuchs S; Gal A; Tamai M
    Retina; 1997; 17(1):17-22. PubMed ID: 9051837
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.
    Yamamoto S; Sippel KC; Berson EL; Dryja TP
    Nat Genet; 1997 Feb; 15(2):175-8. PubMed ID: 9020843
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel GRK1 mutation in an Italian patient with Oguchi disease.
    Mucciolo DP; Sodi A; Murro V; Passerini I; Palchetti S; Pelo E; Virgili G; Rizzo S
    Ophthalmic Genet; 2018; 39(1):137-138. PubMed ID: 28511019
    [No Abstract]   [Full Text] [Related]  

  • 27. Oguchi disease with unusual findings associated with a heterozygous mutation in the SAG gene.
    Fujinami K; Tsunoda K; Nakamura M; Oguchi Y; Miyake Y
    Arch Ophthalmol; 2011 Oct; 129(10):1375-6. PubMed ID: 21987685
    [No Abstract]   [Full Text] [Related]  

  • 28. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.
    Dryja TP
    Am J Ophthalmol; 2000 Nov; 130(5):547-63. PubMed ID: 11078833
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene.
    Nakamachi Y; Nakamura M; Fujii S; Yamamoto M; Okubo K
    Am J Ophthalmol; 1998 Feb; 125(2):249-51. PubMed ID: 9467455
    [TBL] [Abstract][Full Text] [Related]  

  • 30. New variants and in silico analyses in GRK1 associated Oguchi disease.
    Poulter JA; Gravett MSC; Taylor RL; Fujinami K; De Zaeytijd J; Bellingham J; Rehman AU; Hayashi T; Kondo M; Rehman A; Ansar M; Donnelly D; Toomes C; Ali M; ; De Baere E; Leroy BP; Davies NP; Henderson RH; Webster AR; Rivolta C; Zeitz C; Mahroo OA; Arno G; Black GCM; McKibbin M; Harris SA; Khan KN; Inglehearn CF
    Hum Mutat; 2021 Feb; 42(2):164-176. PubMed ID: 33252155
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Rapid detection of SAG 926delA mutation using real-time polymerase chain reaction.
    Yoshida S; Yamaji Y; Yoshida A; Ikeda Y; Yamamoto K; Ishibashi T
    Mol Vis; 2006 Dec; 12():1552-7. PubMed ID: 17200654
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [A case of Oguchi disease with disappearance of golden tapetal-like fundus reflex after vitreous resection].
    Kuroda M; Hirami Y; Nishida A; Jin ZB; Ishigami C; Takahashi M; Kurimoto Y
    Nippon Ganka Gakkai Zasshi; 2011 Oct; 115(10):916-23. PubMed ID: 22117325
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.
    Marmor MF; Zeitz C
    Doc Ophthalmol; 2018 Aug; 137(1):57-62. PubMed ID: 30051303
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Oguchi's disease: two cases and literature review.
    Dai Y; Sun T
    J Int Med Res; 2021 May; 49(5):3000605211019921. PubMed ID: 34057838
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.
    Fuchs S; Nakazawa M; Maw M; Tamai M; Oguchi Y; Gal A
    Nat Genet; 1995 Jul; 10(3):360-2. PubMed ID: 7670478
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Oguchi disease: suggestion of linkage to markers on chromosome 2q.
    Maw MA; John S; Jablonka S; Müller B; Kumaramanickavel G; Oehlmann R; Denton MJ; Gal A
    J Med Genet; 1995 May; 32(5):396-8. PubMed ID: 7616550
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease.
    Nakamura M; Yamamoto S; Okada M; Ito S; Tano Y; Miyake Y
    Ophthalmology; 2004 Jul; 111(7):1410-4. PubMed ID: 15234147
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease.
    Yamada T; Matsumoto M; Kadoi C; Nagaki Y; Hayasaka Y; Hayasaka S
    Ophthalmic Genet; 1999 Jun; 20(2):117-20. PubMed ID: 10420197
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.
    Huynh N; Jeffrey BG; Turriff A; Sieving PA; Cukras CA
    Ophthalmic Genet; 2014 Mar; 35(1):51-6. PubMed ID: 24397708
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
    Vincent A; Wright T; Day MA; Westall CA; Héon E
    Mol Vis; 2011; 17():3262-70. PubMed ID: 22194652
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.