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Items: 1 to 20 of 226

1.

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.

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.

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.

4.

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

PMID:
25256075
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.

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
8.

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
9.

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. doi: 10.1111/exd.12052. Epub 2012 Nov 22.

PMID:
23173980
10.

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.

11.

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. doi: 10.1111/jdv.14717. Epub 2017 Dec 18.

PMID:
29178624
12.

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
13.

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.

14.

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
15.

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.

16.

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. doi: 10.1111/cga.12281. Epub 2018 Apr 15.

PMID:
29569758
17.

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.

18.

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 6;10(1):704. doi: 10.1186/s13104-017-3042-6.

19.

Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer.

Muotri AR, Marchetto MC, Zerbini LF, Libermann TA, Ventura AM, Sarasin A, Menck CF.

Hum Gene Ther. 2002 Oct 10;13(15):1833-44.

PMID:
12396616
20.

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

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