141 related articles for article (PubMed ID: 22211393)
1. 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]
2. 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]
3. c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.
Senhaji MA; Abidi O; Nadifi S; Benchikhi H; Khadir K; Ben Rekaya M; Eloualid A; Messaoud O; Abdelhak S; Barakat A
Arch Dermatol Res; 2013 Jan; 305(1):53-57. PubMed ID: 23143338
[TBL] [Abstract][Full Text] [Related]
4. A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.
Cartault F; Nava C; Malbrunot AC; Munier P; Hebert JC; N'guyen P; Djeridi N; Pariaud P; Pariaud J; Dupuy A; Austerlitz F; Sarasin A
DNA Repair (Amst); 2011 Jun; 10(6):577-85. PubMed ID: 21482201
[TBL] [Abstract][Full Text] [Related]
5. A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.
Doubaj Y; Smaili W; Laarabi FZ; Sefiani A
J Med Case Rep; 2017 Jun; 11(1):158. PubMed ID: 28615033
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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; 54(7):426-9. PubMed ID: 19478817
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. [Xeroderma pigmentosum. A study in 40 Algerian patients].
Bouadjar B; Aït-Belkacem F; Daya-Grosjean L; Sarasin A; Larbaoui SL; Ferhat R; Cherid MC; Bendissari A; Chouiter A; Bouzid K; Henni T; Hafiz A; Allouache A; Ysmail-Dahlouk M
Ann Dermatol Venereol; 1996; 123(5):303-6. PubMed ID: 8761081
[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. 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]
20. Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.
Kobayashi T; Uchiyama M; Fukuro S; Tanaka K
Am J Med Genet; 2002 Jul; 110(3):248-52. PubMed ID: 12116233
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
