BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

68 related articles for article (PubMed ID: 11013455)

  • 1. 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]  

  • 2. 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]  

  • 3. Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.
    Kantaputra PN; Paramee M; Kaewkhampa A; Hoshino A; Lees M; McEntagart M; Masrour N; Moore GE; Pauws E; Stanier P
    J Dent Res; 2011 Apr; 90(4):450-5. PubMed ID: 21248356
    [TBL] [Abstract][Full Text] [Related]  

  • 4. DNA sequence analysis of monoamine oxidase B gene coding and promoter regions in Parkinson's disease cases and unrelated controls.
    Costa-Mallen P; Afsharinejad Z; Kelada SN; Costa LG; Franklin GM; Swanson PD; Longstreth WT; Viernes HM; Farin FM; Smith-Weller T; Checkoway H
    Mov Disord; 2004 Jan; 19(1):76-83. PubMed ID: 14743364
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.
    Lam CW; Chan KY; Tong SF; Chan BY; Chan YT; Chan YW
    Hum Mutat; 2000 Jul; 16(1):94. PubMed ID: 10874322
    [No Abstract]   [Full Text] [Related]  

  • 6. CRYAB promoter polymorphisms: influence on multiple sclerosis susceptibility and clinical presentation.
    Stoevring B; Frederiksen JL; Christiansen M
    Clin Chim Acta; 2007 Jan; 375(1-2):57-62. PubMed ID: 17010329
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.
    Gort L; Coll MJ; Chabás A
    Hum Mutat; 2000 Oct; 16(4):375-6. PubMed ID: 11013459
    [No Abstract]   [Full Text] [Related]  

  • 8. Human GABA(B) receptor 1 gene: eight novel sequence variants.
    Hisama FM; Gruen JR; Choi J; Huseinovic M; Grigorenko EL; Pauls D; Mattson RH; Gelernter J; Wood FB; Goei VL
    Hum Mutat; 2001 Apr; 17(4):349-50. PubMed ID: 11295833
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.
    Echwald SM; Andersen KL; Sørensen TI; Larsen LH; Andersen T; Tonooka N; Tomura H; Takeda J; Pedersen O
    Hum Mutat; 2004 Nov; 24(5):381-7. PubMed ID: 15459958
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Variability of the CD36 gene in West Africa.
    Gelhaus A; Scheding A; Browne E; Burchard GD; Horstmann RD
    Hum Mutat; 2001 Nov; 18(5):444-50. PubMed ID: 11668637
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.
    De Siervi A; Parera VE; del C Batlle AM; Rossetti MV
    Hum Mutat; 2000 Dec; 16(6):532. PubMed ID: 11102990
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
    Rosenthal D; Lien YH; Lager D; Lai LW; Shang S; Leung N; Fervenza FC
    Am J Kidney Dis; 2004 Nov; 44(5):e85-9. PubMed ID: 15492942
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Alpha B-crystallin mutation in dilated cardiomyopathy.
    Inagaki N; Hayashi T; Arimura T; Koga Y; Takahashi M; Shibata H; Teraoka K; Chikamori T; Yamashina A; Kimura A
    Biochem Biophys Res Commun; 2006 Apr; 342(2):379-86. PubMed ID: 16483541
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. A novel missense mutation (L198R) in the Friedreich's ataxia gene.
    Al-Mahdawi S; Pook M; Chamberlain S
    Hum Mutat; 2000 Jul; 16(1):95. PubMed ID: 10874325
    [No Abstract]   [Full Text] [Related]  

  • 18. Genetic variants in the promoter (g983G>T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy.
    Erdmann J; Hassfeld S; Kallisch H; Fleck E; Regitz-Zagrose V
    Hum Mutat; 2000 Nov; 16(5):448. PubMed ID: 11058912
    [No Abstract]   [Full Text] [Related]  

  • 19. Translated mutation in the Nurr1 gene as a cause for Parkinson's disease.
    Grimes DA; Han F; Panisset M; Racacho L; Xiao F; Zou R; Westaff K; Bulman DE
    Mov Disord; 2006 Jul; 21(7):906-9. PubMed ID: 16532445
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 4.