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Items: 1 to 20 of 90

1.

Xeroderma pigmentosum group C in an isolated region of Guatemala.

Cleaver JE, Feeney L, Tang JY, Tuttle P.

J Invest Dermatol. 2007 Feb;127(2):493-6. Epub 2006 Sep 21. No abstract available.

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

PMID:
20054342
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.

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.

5.

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
6.

A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients.

Cleaver JE, Charles WC, Thomas GH, McDowell ML.

Hum Mol Genet. 1995 Sep;4(9):1685-7. No abstract available.

PMID:
8541864
7.

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
8.

A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A.

Tanioka M, Budiyant A, Ueda T, Nagano T, Ichihashi M, Miyachi Y, Nishigori C.

J Invest Dermatol. 2005 Aug;125(2):244-6.

PMID:
16098033
9.

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J, et al.

Am J Hum Genet. 1995 Jan;56(1):167-74. Review.

10.

Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.

Satokata I, Uchiyama M, Tanaka K.

Hum Mol Genet. 1995 Oct;4(10):1993-4. No abstract available.

PMID:
8595429
11.

Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.

Itoh T, Linn S, Kamide R, Tokushige H, Katori N, Hosaka Y, Yamaizumi M.

J Invest Dermatol. 2000 Dec;115(6):981-5.

PMID:
11121129
12.

Convulsive episodes in patients with group A xeroderma pigmentosum.

Kohyama J, Furushima W, Sugawara Y, Shimohira M, Hasegawa T, Hayashi M, Moriwaki S, Iwakawa Y.

Acta Neurol Scand. 2005 Oct;112(4):265-9.

PMID:
16146498
13.

Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.

Ridley AJ, Colley J, Wynford-Thomas D, Jones CJ.

J Hum Genet. 2005;50(3):151-4. Epub 2005 Mar 3.

PMID:
15744458
14.

The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene.

Tanaka K.

Jpn J Hum Genet. 1993 Mar;38(1):1-14. No abstract available.

PMID:
8504220
16.

Germline and somatic mutations of the INK4a-ARF gene in a xeroderma pigmentosum group C patient.

Soufir N, Ribojad M, Magnaldo T, Thibaudeau O, Delestaing G, Daya-Grosjean L, Rivet J, Sarasin A, Basset-Seguin N.

J Invest Dermatol. 2002 Dec;119(6):1355-60.

PMID:
12485439
17.

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
18.

Cloning and characterization of the Drosophila homolog of the xeroderma pigmentosum complementation-group B correcting gene, ERCC3.

Koken MH, Vreeken C, Bol SA, Cheng NC, Jaspers-Dekker I, Hoeijmakers JH, Eeken JC, Weeda G, Pastink A.

Nucleic Acids Res. 1992 Nov 11;20(21):5541-8.

19.

Genetics and skin cancer of xeroderma pigmentosum in Japan.

Takebe H, Nishigori C, Satoh Y.

Jpn J Cancer Res. 1987 Nov;78(11):1135-43. Review. No abstract available.

PMID:
3121549
20.

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
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