BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 32935933)

  • 1. Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.
    Soares IFZ; Christofolini DM; Silva LG; Feder D; de Siqueira Carvalho AA
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1491. PubMed ID: 32935933
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.
    Liu X; Zhang X; Qiao J; Fang H
    Int J Med Sci; 2013; 10(6):766-70. PubMed ID: 23630442
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular genetics of Xeroderma pigmentosum variant.
    Gratchev A; Strein P; Utikal J; Sergij G
    Exp Dermatol; 2003 Oct; 12(5):529-36. PubMed ID: 14705792
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of Frameshift Variants in
    Zamani GY; Khan R; Karim N; Ahmed ZM; Naeem M
    Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328096
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology.
    Ortega-Recalde O; Vergara JI; Fonseca DJ; Ríos X; Mosquera H; Bermúdez OM; Medina CL; Vargas CI; Pallares AE; Restrepo CM; Laissue P
    PLoS One; 2014; 8(6):e64692. PubMed ID: 23755135
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
    Opletalova K; Bourillon A; Yang W; Pouvelle C; Armier J; Despras E; Ludovic M; Mateus C; Robert C; Kannouche P; Soufir N; Sarasin A
    Hum Mutat; 2014 Jan; 35(1):117-28. PubMed ID: 24130121
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.
    Di Lucca J; Guedj M; Lacapère JJ; Fargnoli MC; Bourillon A; Dieudé P; Dupin N; Wolkenstein P; Aegerter P; Saiag P; Descamps V; Lebbe C; Basset-Seguin N; Peris K; Grandchamp B; Soufir N
    Eur J Cancer; 2009 Dec; 45(18):3228-36. PubMed ID: 19477635
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 49(5):544-8. PubMed ID: 20534089
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spotlight on 'xeroderma pigmentosum'.
    Fassihi H
    Photochem Photobiol Sci; 2013 Jan; 12(1):78-84. PubMed ID: 23132518
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Replication of damaged DNA: molecular defect in xeroderma pigmentosum variant cells.
    Cordonnier AM; Fuchs RP
    Mutat Res; 1999 Oct; 435(2):111-9. PubMed ID: 10556591
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.
    Castro LP; Sahbatou M; Kehdy FSG; Farias AA; Yurchenko AA; de Souza TA; Rosa RCA; Mendes-Junior CT; Borda V; Munford V; Zanardo ÉA; Chehimi SN; Kulikowski LD; Aquino MM; Leal TP; Tarazona-Santos E; Chaibub SC; Gener B; Calmels N; Laugel V; Sarasin A; Menck CFM
    Mutat Res Genet Toxicol Environ Mutagen; 2020 Apr; 852():503164. PubMed ID: 32265042
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 10(1):704. PubMed ID: 29208038
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Rare exon 10 deletion in POLH gene in a family with xeroderma pigmentosum variant correlating with protein expression by immunohistochemistry.
    Borroni RG; Diegoli M; Grasso M; Concardi M; Agozzino M; Vignini M; Arbustini E
    G Ital Dermatol Venereol; 2020 Jun; 155(3):349-354. PubMed ID: 32635709
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.
    Tanioka M; Masaki T; Ono R; Nagano T; Otoshi-Honda E; Matsumura Y; Takigawa M; Inui H; Miyachi Y; Moriwaki S; Nishigori C
    J Invest Dermatol; 2007 Jul; 127(7):1745-51. PubMed ID: 17344931
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.
    Yuasa M; Masutani C; Eki T; Hanaoka F
    Oncogene; 2000 Sep; 19(41):4721-8. PubMed ID: 11032022
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
    Santiago KM; Castro LP; Neto JPD; de Nóbrega AF; Pinto CAL; Ashton-Prolla P; Pinto E Vairo F; de Medeiros PFV; Ribeiro EM; Ribeiro BFR; do Valle FF; Doriqui MJR; Leite CHB; Rocha RM; Moura LMS; Munford V; Galante PAF; Menck CFM; Rogatto SR; Achatz MI
    J Eur Acad Dermatol Venereol; 2020 Oct; 34(10):2392-2401. PubMed ID: 32239545
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type.
    OuYang X; Zhang D; Wang X; Yu S; Xiao Z; Li C
    Clin Exp Dermatol; 2022 Nov; 47(11):2069-2071. PubMed ID: 35984432
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum.
    Fang X; Sun Y
    Front Genet; 2019; 10():495. PubMed ID: 31178899
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.