BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

67 related articles for article (PubMed ID: 11139265)

  • 1. Identification of genetic variants (g789C>T and G111S) in the human HSPB2 gene.
    Hahner A; Erdmann J; Kallisch H; Fleck E; Regitz-Zagrosek V
    Hum Mutat; 2001; 17(1):81. PubMed ID: 11139265
    [No Abstract]   [Full Text] [Related]  

  • 2. Five novel genetic variants in the promoter and coding region of the alpha B-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L.
    Hahner A; Erdmann J; Kallisch H; Fleck E; Regitz-Zagrosek V
    Hum Mutat; 2000 Oct; 16(4):374. PubMed ID: 11013455
    [No Abstract]   [Full Text] [Related]  

  • 3. T>C transition in codon 72 (TCG-->CCG), S72P, a putative hotspot in PMP22.
    Ekici AB; Park O; Korinthenberg R; Grehl H; Rautenstrauss B
    Hum Mutat; 2001; 17(1):81. PubMed ID: 11139264
    [No Abstract]   [Full Text] [Related]  

  • 4. Identification of 6 new polymorphisms, g.11177G>A, g.14622C>T (R49C), g.17540T>C, g.17639T>C, g.30929T>C, g.31074G>A (R454Q), in the human microsomal epoxide hydrolase gene (EPHX1) in a French population.
    Belmahdi F; Chevalier D; Lo-Guidice JM; Allorge D; Cauffiez C; Lafitte JJ; Broly F
    Hum Mutat; 2000 Nov; 16(5):450. PubMed ID: 11058921
    [No Abstract]   [Full Text] [Related]  

  • 5. A phenotype without spasticity in sacsin-related ataxia.
    Shimazaki H; Takiyama Y; Sakoe K; Ando Y; Nakano I
    Neurology; 2005 Jun; 64(12):2129-31. PubMed ID: 15985586
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Wiskott Aldrich syndrome in an Israeli family: identification of a novel G40V mutation.
    Rottem M; Alon-Shalev S; Shneor Y; Hujeirat Y
    Hum Mutat; 2000 Nov; 16(5):448. PubMed ID: 11058913
    [No Abstract]   [Full Text] [Related]  

  • 7. G12S and H50R variations are polymorphisms in the SDHD gene.
    Cascón A; Ruiz-Llorente S; Cebrián A; Letón R; Tellería D; Benítez J; Robledo M
    Genes Chromosomes Cancer; 2003 Jun; 37(2):220-1. PubMed ID: 12696072
    [No Abstract]   [Full Text] [Related]  

  • 8. Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene.
    Broekaert SM; Knauss-Scherwitz E; Biedermann T; Metzler G; Has C; Kohlhase J; Röcken M; Schaller M
    Acta Derm Venereol; 2006; 86(6):556-7. PubMed ID: 17106611
    [No Abstract]   [Full Text] [Related]  

  • 9. Association of HSPB2, a member of the small heat shock protein family, with mitochondria.
    Nakagawa M; Tsujimoto N; Nakagawa H; Iwaki T; Fukumaki Y; Iwaki A
    Exp Cell Res; 2001 Nov; 271(1):161-8. PubMed ID: 11697892
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular scanning of the betacellulin gene for mutations in type 2 diabetic patients.
    Nakagawa T; Furuta H; Sanke T; Sakagashira S; Shimomura H; Shimajiri Y; Hanabusa T; Nishi M; Sasaki H; Nanjo K
    Diabetes Res Clin Pract; 2005 Jun; 68(3):188-92. PubMed ID: 15936459
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel SACS mutation in a Belgian family with sacsin-related ataxia.
    Ouyang Y; Segers K; Bouquiaux O; Wang FC; Janin N; Andris C; Shimazaki H; Sakoe K; Nakano I; Takiyama Y
    J Neurol Sci; 2008 Jan; 264(1-2):73-6. PubMed ID: 17716690
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel missense polymorphism in the regulator of G-protein signaling 10 gene: analysis of association with schizophrenia.
    Hishimoto A; Shirakawa O; Nishiguchi N; Aoyama S; Ono H; Hashimoto T; Maeda K
    Psychiatry Clin Neurosci; 2004 Oct; 58(5):579-81. PubMed ID: 15482592
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study.
    Monaghan KG; Feldman GL; Barbarotto GM; Manji S; Desai TK; Snow K
    Am J Med Genet; 2000 Dec; 95(4):361-5. PubMed ID: 11186891
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Four single-nucleotide polymorphisms in the human BUB1 gene.
    Kanbe T; Nobukuni T; Kawasaki H; Sekiya T; Murakami Y
    J Hum Genet; 2001; 46(3):150-1. PubMed ID: 11310583
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Molecular mechanisms of small heat shock protein-related disease and its therapeutic strategies].
    Sanbe A
    Nihon Yakurigaku Zasshi; 2012 Jun; 139(6):256-9. PubMed ID: 22728988
    [No Abstract]   [Full Text] [Related]  

  • 16. Three novel missense mutations of WNK4, a kinase mutated in inherited hypertension, in Japanese hypertensives: implication of clinical phenotypes.
    Kamide K; Takiuchi S; Tanaka C; Miwa Y; Yoshii M; Horio T; Mannami T; Kokubo Y; Tomoike H; Kawano Y; Miyata T
    Am J Hypertens; 2004 May; 17(5 Pt 1):446-9. PubMed ID: 15110905
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy.
    Bhagavati S; Maccabee PJ; Xu W
    J Clin Neurosci; 2009 Jun; 16(6):830-1. PubMed ID: 19286384
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hb riccarton [alpha51(CE9)Gly-->Ser]: a variant arising from a novel mutation in the alpha1 gene.
    Brennan SO; Chan T; Obele M; George PM
    Hemoglobin; 2005; 29(1):61-4. PubMed ID: 15768556
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
    Rosenzweig M; Skinner M; Prokaeva T; Théberge R; Costello C; Drachman BM; Connors LH
    Amyloid; 2007 Mar; 14(1):65-71. PubMed ID: 17453626
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese.
    Yang CF; Wu JY; Tsai FJ; Lee CC; Lin WD
    Hum Mutat; 2000 Nov; 16(5):448. PubMed ID: 11058914
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 4.