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Journal Abstract Search

539 related items for PubMed ID: 29178624

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
    Tamhankar PM, Iyer SV, Ravindran S, Gupta N, Kabra M, Nayak C, Kura M, Sanghavi S, Joshi R, Chennuri VS, Khopkar U.
    Indian J Dermatol Venereol Leprol; 2015 May; 81(1):16-22. PubMed ID: 25566891
    [Abstract] [Full Text] [Related]

  • 3. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
    Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH.
    Hum Mutat; 2008 Oct; 29(10):1194-208. PubMed ID: 18470933
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.
    Bensenouci S, Louhibi L, De Verneuil H, Mahmoudi K, Saidi-Mehtar N.
    Biomed Res Int; 2016 Jun; 2016():2180946. PubMed ID: 27413738
    [Abstract] [Full Text] [Related]

  • 6. Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.
    Sun Z, Zhang J, Guo Y, Ni C, Liang J, Cheng R, Li M, Yao Z.
    Br J Dermatol; 2015 Apr; 172(4):1096-102. PubMed ID: 25256075
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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 04; 6(1):100-14. PubMed ID: 17079196
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 533(1):52-6. PubMed ID: 24135642
    [Abstract] [Full Text] [Related]

  • 10. Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.
    Messaoud O, Ben Rekaya M, Cherif W, Talmoudi F, Boussen H, Mokhtar I, Boubaker S, Amouri A, Abdelhak S, Zghal M.
    Int J Dermatol; 2010 May 01; 49(5):544-8. PubMed ID: 20534089
    [Abstract] [Full Text] [Related]

  • 11. Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
    Zhou EY, Wang H, Lin Z, Xu G, Ma Z, Zhao J, Feng C, Duo L, Yin J, Yang Y.
    J Dermatol; 2017 Jan 01; 44(1):71-75. PubMed ID: 27607234
    [Abstract] [Full Text] [Related]

  • 12. Xeroderma pigmentosum with multiple malignancies.
    Nalgirkar AR, Borkar SS, Nalgirkar SA.
    Indian Pediatr; 2000 Dec 01; 37(12):1377-9. PubMed ID: 11119344
    [No Abstract] [Full Text] [Related]

  • 13. Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.
    Kindil Z, Senhaji MA, Bakhchane A, Charoute H, Chihab S, Nadifi S, Barakat A.
    BMC Res Notes; 2017 Dec 06; 10(1):704. PubMed ID: 29208038
    [Abstract] [Full Text] [Related]

  • 14. Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.
    Ben Rekaya M, Naouali C, Messaoud O, Jones M, Bouyacoub Y, Nagara M, Pippucci T, Jmel H, Chargui M, Jerbi M, Alibi M, Dallali H, Bashamboo A, McElreavey K, Romeo G, Barakat A, Zghal M, Yacoub-Youssef H, Abdelhak S.
    J Dermatol Sci; 2018 Feb 06; 89(2):172-180. PubMed ID: 29169765
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  • 18. 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 06; 22(7):486-9. PubMed ID: 23800062
    [Abstract] [Full Text] [Related]

  • 19. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm.
    Kraemer KH, Lee MM, Andrews AD, Lambert WC.
    Arch Dermatol; 1994 Aug 06; 130(8):1018-21. PubMed ID: 8053698
    [Abstract] [Full Text] [Related]

  • 20. The present status of xeroderma pigmentosum in Japan and a tentative severity classification scale.
    Nakano E, Masaki T, Kanda F, Ono R, Takeuchi S, Moriwaki S, Nishigori C.
    Exp Dermatol; 2016 Aug 06; 25 Suppl 3():28-33. PubMed ID: 27539899
    [Abstract] [Full Text] [Related]

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