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Journal Abstract Search

197 related items for PubMed ID: 28669926

  • 1. 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 10; 628():162-169. PubMed ID: 28669926
    [Abstract] [Full Text] [Related]

  • 2. 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 Sep 10; 2016():2180946. PubMed ID: 27413738
    [Abstract] [Full Text] [Related]

  • 3. 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 10; 27(1):84-94. PubMed ID: 16081512
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  • 4. 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 10; 22(1):24-9. PubMed ID: 23173980
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  • 5. Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
    Ali MZ, Blatterer J, Khan MA, Schaflinger E, Petek E, Ahmad S, Khan E, Windpassinger C.
    Mol Genet Genomic Med; 2020 Feb 10; 8(2):e1060. PubMed ID: 31923348
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  • 6. 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]

  • 7. [Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C].
    Wang L, Huang S, Li J, Zou Y, Xu P, Gao M, Kang R, Xie H, Wei X, Niu Y, Liu X, Gao Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug 10; 35(4):540-543. PubMed ID: 30098252
    [Abstract] [Full Text] [Related]

  • 8. XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
    Khan SG, Oh KS, Emmert S, Imoto K, Tamura D, Digiovanna JJ, Shahlavi T, Armstrong N, Baker CC, Neuburg M, Zalewski C, Brewer C, Wiggs E, Schiffmann R, Kraemer KH.
    DNA Repair (Amst); 2009 Jan 01; 8(1):114-25. PubMed ID: 18955168
    [Abstract] [Full Text] [Related]

  • 9. Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.
    Kuschal C, Khan SG, Enk B, DiGiovanna JJ, Kraemer KH.
    Exp Dermatol; 2015 Apr 01; 24(4):296-7. PubMed ID: 25651777
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 117(2):197-204. PubMed ID: 11511294
    [Abstract] [Full Text] [Related]

  • 11. XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.
    Ijaz A, Basit S, Gul A, Batool L, Hussain A, Afzal S, Ramzan K, Ahmad J, Wali A.
    Congenit Anom (Kyoto); 2019 Jan 01; 59(1):18-21. PubMed ID: 29569758
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 130(6):1537-42. PubMed ID: 20054342
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  • 16. In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation.
    Yasuda G, Nishi R, Watanabe E, Mori T, Iwai S, Orioli D, Stefanini M, Hanaoka F, Sugasawa K.
    Mol Cell Biol; 2007 Oct 01; 27(19):6606-14. PubMed ID: 17682058
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  • 17. 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 01; 54(7):426-9. PubMed ID: 19478817
    [Abstract] [Full Text] [Related]

  • 18. Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.
    Meneses M, Chavez-Bourgeois M, Badenas C, Villablanca S, Aguilera P, Bennàssar A, Alos L, Puig S, Malvehy J, Carrera C.
    Dermatology; 2015 Jul 01; 231(3):217-21. PubMed ID: 26278556
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