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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

273 related articles for article (PubMed ID: 7849740)

  • 1. Molecular genetics of oculocutaneous albinism.
    Spritz RA
    Hum Mol Genet; 1994; 3 Spec No():1469-75. PubMed ID: 7849740
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular genetics of oculocutaneous albinism.
    Spritz RA
    Semin Dermatol; 1993 Sep; 12(3):167-72. PubMed ID: 8217557
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Genetics of oculocutaneous albinism].
    Zühlke C; Stell A; Käsmann-Kellner B
    Ophthalmologe; 2007 Aug; 104(8):674-80. PubMed ID: 17646993
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
    Tripathi RK; Strunk KM; Giebel LB; Weleber RG; Spritz RA
    Am J Med Genet; 1992 Jul; 43(5):865-71. PubMed ID: 1642278
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Human oculocutaneous albinism. From clinical observation to molecular biology].
    Aquaron R
    Bull Soc Pathol Exot; 1993; 86(5):313-26. PubMed ID: 8124097
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).
    Nakamura E; Miyamura Y; Matsunaga J; Kano Y; Dakeishi-Hara M; Tanita M; Kono M; Tomita Y
    J Dermatol Sci; 2002 Feb; 28(2):102-5. PubMed ID: 11858948
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
    Tripathi RK; Bundey S; Musarella MA; Droetto S; Strunk KM; Holmes SA; Spritz RA
    Am J Hum Genet; 1993 Dec; 53(6):1173-9. PubMed ID: 7902671
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Oculocutaneous and ocular albinism].
    Kubasch AS; Meurer M
    Hautarzt; 2017 Nov; 68(11):867-875. PubMed ID: 29018889
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
    Khordadpoor-Deilamani F; Akbari MT; Karimipoor M; Javadi G
    Mol Vis; 2015; 21():730-5. PubMed ID: 26167114
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
    Giebel LB; Tripathi RK; King RA; Spritz RA
    J Clin Invest; 1991 Mar; 87(3):1119-22. PubMed ID: 1900309
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.
    Toyofuku K; Valencia JC; Kushimoto T; Costin GE; Virador VM; Vieira WD; Ferrans VJ; Hearing VJ
    Pigment Cell Res; 2002 Jun; 15(3):217-24. PubMed ID: 12028586
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism.
    Park KC; Park SK; Lee YS; Youn SW; Park BS; Kim KH; Lee ST
    Jpn J Hum Genet; 1996 Sep; 41(3):299-305. PubMed ID: 8996965
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Electron microscopic DOPA reaction test for oculocutaneous albinism.
    Takizawa Y; Kato S; Matsunaga J; Aozaki R; Tomita Y; Nishikawa T; Shimizu H
    Arch Dermatol Res; 2000 Jun; 292(6):301-5. PubMed ID: 10929771
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A.
    Teramae A; Kobayashi Y; Kunimoto H; Nakajima K; Suzuki T; Tsuruta D; Fukai K
    J Invest Dermatol; 2019 May; 139(5):1143-1149. PubMed ID: 30447237
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
    Oetting WS; King RA
    Hum Mutat; 1993; 2(1):1-6. PubMed ID: 8477259
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
    Passmore LA; Kaesmann-Kellner B; Weber BH
    Hum Genet; 1999 Sep; 105(3):200-10. PubMed ID: 10987646
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".
    Boissy RE; Zhao H; Oetting WS; Austin LM; Wildenberg SC; Boissy YL; Zhao Y; Sturm RA; Hearing VJ; King RA; Nordlund JJ
    Am J Hum Genet; 1996 Jun; 58(6):1145-56. PubMed ID: 8651291
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.
    Park SK; Lee KH; Park KC; Lee JS; Spritz RA; Lee ST
    Mol Cells; 1997 Apr; 7(2):187-91. PubMed ID: 9163730
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
    Mauri L; Barone L; Al Oum M; Del Longo A; Piozzi E; Manfredini E; Stanzial F; Benedicenti F; Penco S; Patrosso MC
    Gene; 2014 Jan; 533(1):398-402. PubMed ID: 24096233
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.
    Onojafe IF; Adams DR; Simeonov DR; Zhang J; Chan CC; Bernardini IM; Sergeev YV; Dolinska MB; Alur RP; Brilliant MH; Gahl WA; Brooks BP
    J Clin Invest; 2011 Oct; 121(10):3914-23. PubMed ID: 21968110
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.