Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 97

1.

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. doi: 10.1155/2014/256245. Epub 2014 May 4.

2.

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
3.

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
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.
6.

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
7.

The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum.

Messaoud O, Ben Rekaya M, Jerbi M, Ouertani I, Kefi R, Laroussi N, Bouyacoub Y, Benfadhel S, Yacoub-Youssef H, Boubaker S, Zghal M, Mrad R, Amouri A, Abdelhak S.

Public Health Genomics. 2013;16(5):251-4. doi: 10.1159/000354584. Epub 2013 Sep 7.

PMID:
24021614
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.

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. doi: 10.1111/phpp.12283.

PMID:
27982466
10.

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. doi: 10.1007/s00403-011-1190-4. Epub 2011 Nov 12.

PMID:
22081045
11.

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. doi: 10.1111/phpp.12038.

PMID:
23651273
12.

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
13.

Xeroderma pigmentosum-variant patients from America, Europe, and Asia.

Inui H, Oh KS, Nadem C, Ueda T, Khan SG, Metin A, Gozukara E, Emmert S, Slor H, Busch DB, Baker CC, DiGiovanna JJ, Tamura D, Seitz CS, Gratchev A, Wu WH, Chung KY, Chung HJ, Azizi E, Woodgate R, Schneider TD, Kraemer KH.

J Invest Dermatol. 2008 Aug;128(8):2055-68. doi: 10.1038/jid.2008.48. Epub 2008 Mar 27.

14.

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

Ben Rekaya M, Messaoud O, Mebazaa A, Riahi O, Azaiez H, Kefi R, Zghal M, Boubaker S, Amouri A, Ben Osman-Dhahri A, Abdelhak S, Mokni M.

J Genet. 2011 Dec;90(3):483-7. No abstract available.

15.

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 Apr 21;10(6):766-70. doi: 10.7150/ijms.6095. Print 2013.

16.

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.

17.

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.

18.
19.

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
20.

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.

PMID:
24130121

Supplemental Content

Support Center