83 related articles for article (PubMed ID: 1352672)
1. A case of xeroderma pigmentosum group A diagnosed with a polymerase chain reaction (PCR) technique. Usefulness of PCR in the detection of point mutation in a patient with a hereditary disease.
Kore-eda S; Tanaka T; Moriwaki S; Nishigori C; Imamura S
Arch Dermatol; 1992 Jul; 128(7):971-4. PubMed ID: 1352672
[TBL] [Abstract][Full Text] [Related]
2. 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; 12(6):536-9. PubMed ID: 12459522
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 7905727
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 22168765
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
Kobayashi T; Kuraoka I; Saijo M; Nakatsu Y; Tanaka A; Someda Y; Fukuro S; Tanaka K
Hum Mutat; 1997; 9(4):322-31. PubMed ID: 9101292
[TBL] [Abstract][Full Text] [Related]
6. [Neurological manifestations and molecular basis of group A xeroderma pigmentosum].
Mimaki T; Tanaka K; Nagai A; Mino M
Nihon Rinsho; 1993 Sep; 51(9):2488-93. PubMed ID: 8105118
[TBL] [Abstract][Full Text] [Related]
7. Characterization of a splicing mutation in group A xeroderma pigmentosum.
Satokata I; Tanaka K; Miura N; Miyamoto I; Satoh Y; Kondo S; Okada Y
Proc Natl Acad Sci U S A; 1990 Dec; 87(24):9908-12. PubMed ID: 1702221
[TBL] [Abstract][Full Text] [Related]
8. p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C.
Giglia G; Dumaz N; Drougard C; Avril MF; Daya-Grosjean L; Sarasin A
Cancer Res; 1998 Oct; 58(19):4402-9. PubMed ID: 9766670
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 15214909
[TBL] [Abstract][Full Text] [Related]
10. 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; 60(7):1974-82. PubMed ID: 10766188
[TBL] [Abstract][Full Text] [Related]
11. Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum.
Pawsey SA; Magnus IA; Ramsay CA; Benson PF; Giannelli F
Q J Med; 1979 Apr; 48(190):179-210. PubMed ID: 504548
[TBL] [Abstract][Full Text] [Related]
12. Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.
Marionnet C; Benoit A; Benhamou S; Sarasin A; Stary A
J Mol Biol; 1995 Oct; 252(5):550-62. PubMed ID: 7563073
[TBL] [Abstract][Full Text] [Related]
13. U.v.-hypermutability of xeroderma pigmentosum cells demonstrated with a DNA-based mutation system.
Steingrimsdottir H; Beare D; Carr AM; Cole J; Lehmann AR
Oncogene; 1995 May; 10(10):2057-66. PubMed ID: 7761106
[TBL] [Abstract][Full Text] [Related]
14. Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
States JC; McDuffie ER; Myrand SP; McDowell M; Cleaver JE
Hum Mutat; 1998; 12(2):103-13. PubMed ID: 9671271
[TBL] [Abstract][Full Text] [Related]
15. Three nonsense mutations responsible for group A xeroderma pigmentosum.
Satokata I; Tanaka K; Miura N; Narita M; Mimaki T; Satoh Y; Kondo S; Okada Y
Mutat Res; 1992 Mar; 273(2):193-202. PubMed ID: 1372102
[TBL] [Abstract][Full Text] [Related]
16. Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
Takayama K; Salazar EP; Lehmann A; Stefanini M; Thompson LH; Weber CA
Cancer Res; 1995 Dec; 55(23):5656-63. PubMed ID: 7585650
[TBL] [Abstract][Full Text] [Related]
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; 6(1):100-14. PubMed ID: 17079196
[TBL] [Abstract][Full Text] [Related]
18. DNA-based prenatal carrier detection for group A xeroderma pigmentosum in a chorionic villus sample.
Matsumoto N; Saito N; Harada N; Tanaka K; Niikawa N
Prenat Diagn; 1995 Jul; 15(7):675-7. PubMed ID: 8532631
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 20534089
[TBL] [Abstract][Full Text] [Related]
20. Complementation of transformed fibroblasts from patients with combined xeroderma pigmentosum-Cockayne syndrome.
Ellison AR; Nouspikel T; Jaspers NG; Clarkson SG; Gruenert DC
Exp Cell Res; 1998 Aug; 243(1):22-8. PubMed ID: 9716445
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
