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Items: 1 to 20 of 285

1.

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
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.

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
4.
5.

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
6.

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.

Messaoud O, Ben Rekaya M, Kefi R, Chebel S, Boughammoura-Bouatay A, Bel Hadj Ali H, Gouider-Khouja N, Zili J, Frih-Ayed M, Mokhtar I, Abdelhak S, Zghal M.

Br J Dermatol. 2010 Apr;162(4):883-6. doi: 10.1111/j.1365-2133.2010.09646.x. Epub 2010 Feb 25.

PMID:
20199544
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.

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.

9.
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.
12.

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
13.

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.

14.

DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A.

Yang Y, Ding B, Wang K, Bu D, Tu P, Zhu X.

Br J Dermatol. 2004 Jun;150(6):1190-3.

PMID:
15214909
15.

Truncated XPA protein detected in atypical group A xeroderma pigmentosum.

Mimaki T, Nitta M, Saijo M, Tachi N, Minami R, Tanaka K.

Acta Paediatr. 1996 Apr;85(4):511-3.

PMID:
8740317
16.

Molecular genetics of Xeroderma pigmentosum variant.

Gratchev A, Strein P, Utikal J, Sergij G.

Exp Dermatol. 2003 Oct;12(5):529-36. Review.

PMID:
14705792
17.

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
18.

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.

19.

Prenatal diagnosis of xeroderma pigmentosum group A in Japan.

Moriwaki S, Yamashita Y, Nakamura S, Fujita D, Kohyama J, Takigawa M, Ohmichi M.

J Dermatol. 2012 Jun;39(6):516-9. doi: 10.1111/j.1346-8138.2011.01425.x. Epub 2011 Dec 14.

PMID:
22168765
20.

Compound heterozygosity for the Xeroderma pigmentosum complementation group A gene associated with a mild phenotype.

Negishi I, Kato G, Moriwaki S, Ishikawa O.

Eur J Dermatol. 2002 Nov-Dec;12(6):536-9.

PMID:
12459522

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