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Items: 1 to 20 of 99

1.

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. doi: 10.1007/s00403-012-1299-0. Epub 2012 Nov 11.

PMID:
23143338
2.

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. doi: 10.1155/2016/2180946. Epub 2016 Jun 20.

3.

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. doi: 10.1111/j.1346-8138.2011.01453.x. Epub 2011 Dec 29.

PMID:
22211393
4.

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. doi: 10.1038/jid.2009.409. Epub 2010 Jan 7.

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 15;11(1):158. doi: 10.1186/s13256-017-1311-6.

6.

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. doi: 10.1111/j.1365-4632.2010.04421.x.

PMID:
20534089
7.

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. doi: 10.1111/bjd.13429. Epub 2015 Feb 27.

PMID:
25256075
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. doi: 10.1038/jhg.2009.50. Epub 2009 May 29.

PMID:
19478817
9.

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 Jan-Feb;81(1):16-22. doi: 10.4103/0378-6323.148559.

10.

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 1;533(1):52-6. doi: 10.1016/j.gene.2013.09.125. Epub 2013 Oct 14.

PMID:
24135642
11.

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 4;6(1):100-14. Epub 2006 Oct 31.

PMID:
17079196
12.

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. Epub 2005 Aug 4.

PMID:
16081512
13.

Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.

Nishigori C, Moriwaki S, Takebe H, Tanaka T, Imamura S.

Arch Dermatol. 1994 Feb;130(2):191-7.

PMID:
7905727
14.

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 10;628:162-169. doi: 10.1016/j.gene.2017.06.057. Epub 2017 Jun 29.

PMID:
28669926
15.

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;10(6):577-85. doi: 10.1016/j.dnarep.2011.03.005. Epub 2011 Apr 8.

PMID:
21482201
16.

Xeroderma pigmentosum genes and melanoma risk.

Paszkowska-Szczur K, Scott RJ, Serrano-Fernandez P, Mirecka A, Gapska P, Górski B, Cybulski C, Maleszka R, Sulikowski M, Nagay L, Lubinski J, Dębniak T.

Int J Cancer. 2013 Sep 1;133(5):1094-100. doi: 10.1002/ijc.28123. Epub 2013 Mar 13.

17.

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.

18.

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 1;60(7):1974-82.

19.

Founder mutations in xeroderma pigmentosum.

Tamura D, DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2010 Jun;130(6):1491-3. doi: 10.1038/jid.2010.76.

20.

Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum.

Sheth J, Mistri M, Bhavsar R, Patel H, Sheth F.

Int J Dermatol. 2015 Nov;54(11):e487-91. doi: 10.1111/ijd.13022. Epub 2015 Jul 30. No abstract available.

PMID:
26227012

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