BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 23173980)

  • 1. Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.
    Schäfer A; Hofmann L; Gratchev A; Laspe P; Schubert S; Schürer A; Ohlenbusch A; Tzvetkov M; Hallermann C; Reichrath J; Schön MP; Emmert S
    Exp Dermatol; 2013 Jan; 22(1):24-9. PubMed ID: 23173980
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.
    Chavanne F; Broughton BC; Pietra D; Nardo T; Browitt A; Lehmann AR; Stefanini M
    Cancer Res; 2000 Apr; 60(7):1974-82. PubMed ID: 10766188
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.
    Cartault F; Nava C; Malbrunot AC; Munier P; Hebert JC; N'guyen P; Djeridi N; Pariaud P; Pariaud J; Dupuy A; Austerlitz F; Sarasin A
    DNA Repair (Amst); 2011 Jun; 10(6):577-85. PubMed ID: 21482201
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
    Khan SG; Oh KS; Shahlavi T; Ueda T; Busch DB; Inui H; Emmert S; Imoto K; Muniz-Medina V; Baker CC; DiGiovanna JJ; Schmidt D; Khadavi A; Metin A; Gozukara E; Slor H; Sarasin A; Kraemer KH
    Carcinogenesis; 2006 Jan; 27(1):84-94. PubMed ID: 16081512
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
    Soufir N; Ged C; Bourillon A; Austerlitz F; Chemin C; Stary A; Armier J; Pham D; Khadir K; Roume J; Hadj-Rabia S; Bouadjar B; Taieb A; de Verneuil H; Benchiki H; Grandchamp B; Sarasin A
    J Invest Dermatol; 2010 Jun; 130(6):1537-42. PubMed ID: 20054342
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.
    Schäfer A; Gratchev A; Seebode C; Hofmann L; Schubert S; Laspe P; Apel A; Ohlenbusch A; Tzvetkov M; Weishaupt C; Oji V; Schön MP; Emmert S
    Exp Dermatol; 2013 Jul; 22(7):486-9. PubMed ID: 23800062
    [TBL] [Abstract][Full Text] [Related]  

  • 7. High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.
    Ben Rekaya M; Messaoud O; Talmoudi F; Nouira S; Ouragini H; Amouri A; Boussen H; Boubaker S; Mokni M; Mokthar I; Abdelhak S; Zghal M
    J Hum Genet; 2009 Jul; 54(7):426-9. PubMed ID: 19478817
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
    Espi P; Parajuli S; Benfodda M; Lebre AS; Paudel U; Grange A; Grybek V; Grange T; Soufir N; Grange F
    J Eur Acad Dermatol Venereol; 2018 May; 32(5):832-839. PubMed ID: 29178624
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect.
    Berneburg M; Clingen PH; Harcourt SA; Lowe JE; Taylor EM; Green MH; Krutmann J; Arlett CF; Lehmann AR
    Cancer Res; 2000 Jan; 60(2):431-8. PubMed ID: 10667598
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Association between DNA repair-deficiency and high level of p53 mutations in melanoma of Xeroderma pigmentosum.
    Spatz A; Giglia-Mari G; Benhamou S; Sarasin A
    Cancer Res; 2001 Mar; 61(6):2480-6. PubMed ID: 11289118
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum.
    Pawsey SA; Magnus IA; Ramsay CA; Benson PF; Giannelli F
    Q J Med; 1979 Apr; 48(190):179-210. PubMed ID: 504548
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A unique chromosomal in-frame deletion identified among seven XP-C patients.
    Schubert S; Rieper P; Ohlenbusch A; Seebode C; Lehmann J; Gratchev A; Emmert S
    Photodermatol Photoimmunol Photomed; 2016 Sep; 32(5-6):276-283. PubMed ID: 27387384
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients.
    Amr K; Messaoud O; El Darouti M; Abdelhak S; El-Kamah G
    Gene; 2014 Jan; 533(1):52-6. PubMed ID: 24135642
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
    Rivera-Begeman A; McDaniel LD; Schultz RA; Friedberg EC
    DNA Repair (Amst); 2007 Jan; 6(1):100-14. PubMed ID: 17079196
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.
    Gozukara EM; Khan SG; Metin A; Emmert S; Busch DB; Shahlavi T; Coleman DM; Miller M; Chinsomboon N; Stefanini M; Kraemer KH
    J Invest Dermatol; 2001 Aug; 117(2):197-204. PubMed ID: 11511294
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant.
    Gu Y; Chang X; Dai S; Song Q; Zhao H; Lei P
    Gene; 2017 Sep; 628():162-169. PubMed ID: 28669926
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Neurological manifestations and molecular basis of group A xeroderma pigmentosum].
    Mimaki T; Tanaka K; Nagai A; Mino M
    Nihon Rinsho; 1993 Sep; 51(9):2488-93. PubMed ID: 8105118
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.
    Slor H; Batko S; Khan SG; Sobe T; Emmert S; Khadavi A; Frumkin A; Busch DB; Albert RB; Kraemer KH
    J Invest Dermatol; 2000 Dec; 115(6):974-80. PubMed ID: 11121128
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
    Kobayashi T; Kuraoka I; Saijo M; Nakatsu Y; Tanaka A; Someda Y; Fukuro S; Tanaka K
    Hum Mutat; 1997; 9(4):322-31. PubMed ID: 9101292
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
    Khan SG; Levy HL; Legerski R; Quackenbush E; Reardon JT; Emmert S; Sancar A; Li L; Schneider TD; Cleaver JE; Kraemer KH
    J Invest Dermatol; 1998 Nov; 111(5):791-6. PubMed ID: 9804340
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.