190 related articles for article (PubMed ID: 25256075)
1. 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]
2. Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.
Zhang J; Cheng R; Yu X; Sun Z; Li M; Yao Z
Photodermatol Photoimmunol Photomed; 2017 Jan; 33(1):58-63. PubMed ID: 27982466
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
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; 2016():2180946. PubMed ID: 27413738
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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; 533(1):52-6. PubMed ID: 24135642
[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. Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population.
Santiago KM; França de Nóbrega A; Rocha RM; Rogatto SR; Achatz MI
Int J Mol Sci; 2015 Apr; 16(4):8988-96. PubMed ID: 25913378
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.
Hirai Y; Kodama Y; Moriwaki S; Noda A; Cullings HM; Macphee DG; Kodama K; Mabuchi K; Kraemer KH; Land CE; Nakamura N
Mutat Res; 2006 Oct; 601(1-2):171-8. PubMed ID: 16905156
[TBL] [Abstract][Full Text] [Related]
12. 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; 81(1):16-22. PubMed ID: 25566891
[TBL] [Abstract][Full Text] [Related]
13. Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
Messaoud O; Rekaya MB; Ouragini H; Benfadhel S; Azaiez H; Kefi R; Gouider-Khouja N; Mokhtar I; Amouri A; Boubaker MS; Zghal M; Abdelhak S
Arch Dermatol Res; 2012 Mar; 304(2):171-6. PubMed ID: 22081045
[TBL] [Abstract][Full Text] [Related]
14. Quantitative analysis of brain atrophy in patients with xeroderma pigmentosum group A carrying the founder mutation in Japan.
Ueda T; Kanda F; Nishiyama M; Nishigori C; Toda T
J Neurol Sci; 2017 Oct; 381():103-106. PubMed ID: 28991657
[TBL] [Abstract][Full Text] [Related]
15. Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J; Khan SG; Tamura D; Goldstein AM; Landi MT; DiGiovanna JJ; Kraemer KH
JAMA Dermatol; 2019 Jan; 155(1):72-78. PubMed ID: 30516811
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.
Yang R; Kong Q; Duan Y; Li W; Sang H
BMC Med Genet; 2020 Mar; 21(1):67. PubMed ID: 32228487
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.
Rabie E; Amr K; Zada S; El-Sayed H; El Darouti M; El-Kamah G
Genes (Basel); 2021 Feb; 12(2):. PubMed ID: 33672602
[TBL] [Abstract][Full Text] [Related]
20. In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum.
Nasir M; Ahmad N; Sieber CM; Latif A; Malik SA; Hameed A
J Biomed Sci; 2013 Sep; 20(1):70. PubMed ID: 24063568
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]