BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

338 related articles for article (PubMed ID: 16555521)

  • 1. [Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families].
    Aquaron R; Berge-Lefranc JL; Badens C; Roche J; Fite A; Sainte-Marie D; Piquion N; Cartault F
    Med Trop (Mars); 2005 Nov; 65(6):584-91. PubMed ID: 16555521
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
    Lee ST; Nicholls RD; Bundey S; Laxova R; Musarella M; Spritz RA
    N Engl J Med; 1994 Feb; 330(8):529-34. PubMed ID: 8302318
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Prenatal gene diagnosis of oculocutaneous albinism type I].
    Li HY; Wu WI; Zheng H; Duan HL; Chen Z; Chen LM
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):280-2. PubMed ID: 16767664
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.
    Preising MN; Forster H; Tan H; Lorenz B; de Jong PT; Plomp AS
    Mol Vis; 2007 Oct; 13():1851-5. PubMed ID: 17960121
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
    Goto M; Sato-Matsumura KC; Sawamura D; Yokota K; Nakamura H; Shimizu H
    J Dermatol Sci; 2004 Sep; 35(3):215-20. PubMed ID: 15381243
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.
    Rosenmann A; Bejarano-Achache I; Eli D; Maftsir G; Mizrahi-Meissonnier L; Blumenfeld A
    Prenat Diagn; 2009 Oct; 29(10):939-46. PubMed ID: 19626598
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism].
    Dai C; Li W; Gao B; Li LY; Lu GX
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Aug; 25(4):373-7. PubMed ID: 18683130
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].
    Li HY; Wei HY; Zheng H; Meng S; Jiang WY; Chen LM; Duan HL
    Zhonghua Yi Xue Za Zhi; 2007 Apr; 87(16):1123-5. PubMed ID: 17672996
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
    Grønskov K; Ek J; Sand A; Scheller R; Bygum A; Brixen K; Brondum-Nielsen K; Rosenberg T
    Invest Ophthalmol Vis Sci; 2009 Mar; 50(3):1058-64. PubMed ID: 19060277
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
    Sundaresan P; Sil AK; Philp AR; Randolph MA; Natchiar G; Namperumalsamy P
    Mol Vis; 2004 Dec; 10():1005-10. PubMed ID: 15635296
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.
    Oetting WS; Fryer JP; King RA
    Hum Mutat; 1998; 12(6):433-4. PubMed ID: 10671066
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system.
    Lin SY; Chien SC; Su YN; Lee CN; Chen CP
    Prenat Diagn; 2006 May; 26(5):466-70. PubMed ID: 16570240
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
    Rimoldi V; Straniero L; Asselta R; Mauri L; Manfredini E; Penco S; Gesu GP; Del Longo A; Piozzi E; Soldà G; Primignani P
    Gene; 2014 Mar; 537(1):79-84. PubMed ID: 24361966
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].
    Zheng H; Huang ZG; Wen RQ; Li HY
    Zhongguo Ying Yong Sheng Li Xue Za Zhi; 2011 Aug; 27(3):329-32. PubMed ID: 22097729
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Polymorphic sequences of the tyrosinase gene: allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis.
    Tanita M; Matsunaga J; Miyamura Y; Dakeishi M; Nakamura E; Kono M; Shimizu H; Tagami H; Tomita Y
    J Hum Genet; 2002; 47(1):1-6. PubMed ID: 11829136
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
    Spritz RA; Oh J; Fukai K; Holmes SA; Ho L; Chitayat D; France TD; Musarella MA; Orlow SJ; Schnur RE; Weleber RG; Levin AV
    Hum Mutat; 1997; 10(2):171-4. PubMed ID: 9259202
    [No Abstract]   [Full Text] [Related]  

  • 19. [A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].
    Zhang L; Xu B; Zhong Y; Chen X; Zheng H; Jiang W; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Jun; 30(3):318-21. PubMed ID: 23744323
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].
    Wu Q; Shi HR; Liu N; Lu N; Jiang M; Zhao ZH; Kong XD
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Aug; 29(4):377-81. PubMed ID: 22875490
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.