These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (PubMed ID: 37109656)

  • 1. Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.
    Seo JI; Nishigori C; Ahn JJ; Ryu JY; Lee J; Lee MH; Kim SK; Jeong KH
    Medicina (Kaunas); 2023 Apr; 59(4):. PubMed ID: 37109656
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
    Macke EL; Morales-Rosado JA; Gupta A; Schmitz CT; Kruisselbrink T; Lanpher B; Klee EW
    Cold Spring Harb Mol Case Stud; 2020 Aug; 6(4):. PubMed ID: 32843428
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. [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; 35(4):540-543. PubMed ID: 30098252
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 8(2):e1060. PubMed ID: 31923348
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
    Khan SG; Metin A; Gozukara E; Inui H; Shahlavi T; Muniz-Medina V; Baker CC; Ueda T; Aiken JR; Schneider TD; Kraemer KH
    Hum Mol Genet; 2004 Feb; 13(3):343-52. PubMed ID: 14662655
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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; 89(2):172-180. PubMed ID: 29169765
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 2016():2180946. PubMed ID: 27413738
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 59(1):18-21. PubMed ID: 29569758
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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; 231(3):217-21. PubMed ID: 26278556
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.
    Nawal W; Ullah A; Ullah U; Farrakh K; Ahmad F; Khan H; Ahmad GS; Khan B; Ansar M; Kalsoom UE; Ahmad W
    Klin Padiatr; 2022 May; 234(3):123-129. PubMed ID: 34544175
    [TBL] [Abstract][Full Text] [Related]  

  • 20. XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
    Khan SG; Yamanegi K; Zheng ZM; Boyle J; Imoto K; Oh KS; Baker CC; Gozukara E; Metin A; Kraemer KH
    Hum Mutat; 2010 Feb; 31(2):167-75. PubMed ID: 19953607
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.