-
1
-
-
0942268166
-
DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
-
Lehmann AR. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimistry 2003, 11:1101-1111.
-
(2003)
Biochimistry
, vol.11
, pp. 1101-1111
-
-
Lehmann, A.R.1
-
2
-
-
42249101874
-
Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
-
Kleijer WJ, Laugel V, Berneburg M. Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst) 2008, 5:744-750.
-
(2008)
DNA Repair (Amst)
, vol.5
, pp. 744-750
-
-
Kleijer, W.J.1
Laugel, V.2
Berneburg, M.3
-
3
-
-
0029892791
-
DNA repair in eukaryotes
-
Wood RD. DNA repair in eukaryotes. Annu Rev Biochem 1996, 65:135-167.
-
(1996)
Annu Rev Biochem
, vol.65
, pp. 135-167
-
-
Wood, R.D.1
-
4
-
-
0034054019
-
Nucleotide excision repair and human syndromes
-
De Boer J, Hoeijmakers JH. Nucleotide excision repair and human syndromes. Carcinogenesis 2000, 3:453-460.
-
(2000)
Carcinogenesis
, vol.3
, pp. 453-460
-
-
De Boer, J.1
Hoeijmakers, J.H.2
-
5
-
-
0035234162
-
Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription
-
Berneburg M, Lehmann AR. Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription. Adv Genet 2001, 43:71-102.
-
(2001)
Adv Genet
, vol.43
, pp. 71-102
-
-
Berneburg, M.1
Lehmann, A.R.2
-
6
-
-
0024049251
-
The relative cytotoxicity of (6-4) photoproducts and cyclobutane dimers in mammalian cells
-
Mitchell DL. The relative cytotoxicity of (6-4) photoproducts and cyclobutane dimers in mammalian cells. Photochem Photobiol 1988, 1:51-57.
-
(1988)
Photochem Photobiol
, vol.1
, pp. 51-57
-
-
Mitchell, D.L.1
-
7
-
-
0027905034
-
Molecular mechanism of transcription-repair coupling
-
Selby CP, Sancar A. Molecular mechanism of transcription-repair coupling. Science 1993, 5104:53-58.
-
(1993)
Science
, vol.5104
, pp. 53-58
-
-
Selby, C.P.1
Sancar, A.2
-
8
-
-
0031802583
-
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. Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. Hum Mutat 1998, 2:103-113.
-
(1998)
Hum Mutat
, vol.2
, pp. 103-113
-
-
States, J.C.1
McDuffie, E.R.2
Myrand, S.P.3
-
9
-
-
0028047596
-
Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan
-
Nishigori C, Moriwaki SI, Takebe K. Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan. Arch Dermatol 1994, 130:191-197.
-
(1994)
Arch Dermatol
, vol.130
, pp. 191-197
-
-
Nishigori, C.1
Moriwaki, S.I.2
Takebe, K.3
-
10
-
-
0027359248
-
High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia
-
Nishigori C, Zghal M, Yagi T. High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. Am J Hum Genet 1993, 53:1001-1006.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1001-1006
-
-
Nishigori, C.1
Zghal, M.2
Yagi, T.3
-
11
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
12
-
-
0041971230
-
Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations
-
Bouchlaka C, Abdelhak S, Amouri A. Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. J Hum Genet 2003, 7:352-361.
-
(2003)
J Hum Genet
, vol.7
, pp. 352-361
-
-
Bouchlaka, C.1
Abdelhak, S.2
Amouri, A.3
-
13
-
-
0343911152
-
Le xeroderma pigmentosum et ses particularités en Tunisie
-
Zghal M, Fazaa B, Mokhtar I. Le xeroderma pigmentosum et ses particularités en Tunisie. Ann Dermatol Venereol 1997, 124:134.
-
(1997)
Ann Dermatol Venereol
, vol.124
, pp. 134
-
-
Zghal, M.1
Fazaa, B.2
Mokhtar, I.3
-
14
-
-
68449094104
-
Xeroderma pigmentosum
-
EMC (Elsevier SAS, Paris, 98-660-A-10
-
Zghal M, Fazaa B, Kamoun M-R. Xeroderma pigmentosum. Dermatologie 2006, EMC (Elsevier SAS, Paris, 98-660-A-10
-
(2006)
Dermatologie
-
-
Zghal, M.1
Fazaa, B.2
Kamoun, M.-R.3
-
15
-
-
9144265810
-
A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia
-
Charfeddine C, Mokni M, Ben Mousli R. A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia. Br J Dermatol 2003, 6:1108-1115.
-
(2003)
Br J Dermatol
, vol.6
, pp. 1108-1115
-
-
Charfeddine, C.1
Mokni, M.2
Ben Mousli, R.3
-
16
-
-
38449102915
-
Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis
-
Barkaoui E, Cherif W, Tebib N. Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis. J Inherit Metab Dis 2007, 6:989.
-
(2007)
J Inherit Metab Dis
, vol.6
, pp. 989
-
-
Barkaoui, E.1
Cherif, W.2
Tebib, N.3
|