BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 32265042)

  • 1. 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]  

  • 2. A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations.
    Munford V; Castro LP; Souto R; Lerner LK; Vilar JB; Quayle C; Asif H; Schuch AP; de Souza TA; Ienne S; Alves FIA; Moura LMS; Galante PAF; Camargo AA; Liboredo R; Pena SDJ; Sarasin A; Chaibub SC; Menck CFM
    Br J Dermatol; 2017 May; 176(5):1270-1278. PubMed ID: 27664908
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.
    Ben Rekaya M; Laroussi N; Messaoud O; Jones M; Jerbi M; Naouali C; Bouyacoub Y; Chargui M; Kefi R; Fazaa B; Boubaker MS; Boussen H; Mokni M; Abdelhak S; Zghal M; Khaled A; Yacoub-Youssef H
    Biomed Res Int; 2014; 2014():256245. PubMed ID: 24877075
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 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; 44(1):71-75. PubMed ID: 27607234
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. PCR-RFLP analysis as an aid to genetic counseling of families of Japanese patients with group A xeroderma pigmentosum.
    Maeda T; Sato K; Minami H; Taguchi H; Yoshikawa K
    J Invest Dermatol; 1997 Sep; 109(3):306-9. PubMed ID: 9284095
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Founder mutations in xeroderma pigmentosum.
    Tamura D; DiGiovanna JJ; Kraemer KH
    J Invest Dermatol; 2010 Jun; 130(6):1491-3. PubMed ID: 20463673
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.
    Nikolaev S; Yurchenko AA; Sarasin A
    Orphanet J Rare Dis; 2022 Mar; 17(1):104. PubMed ID: 35246173
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Three school-age cases of xeroderma pigmentosum variant type.
    Ono R; Masaki T; Takeuchi S; Shimizu A; Tanioka M; Kambe N; Matsue H; Kamide R; Nishigori C
    Photodermatol Photoimmunol Photomed; 2013 Jun; 29(3):132-9. PubMed ID: 23651273
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.
    Doubaj Y; Laarabi FZ; Elalaoui SC; Barkat A; Sefiani A
    J Dermatol; 2012 Apr; 39(4):382-4. PubMed ID: 22211393
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.