-
1
-
-
0013005719
-
Nucleotide excision repair syndromes: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
-
(Vogelstein B, Kinzler KW, eds), New York: McGraw-Hill
-
Bootsma D, Kraemer KH, Cleaver JE, Hoeijmakers JH (2002) Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. In: The genetic basis of human cancer (Vogelstein B, Kinzler KW, eds), New York: McGraw-Hill pp 211-37
-
(2002)
The Genetic Basis of Human Cancer
, pp. 211-237
-
-
Bootsma, D.1
Kraemer, K.H.2
Cleaver, J.E.3
Hoeijmakers, J.H.4
-
2
-
-
0035888619
-
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene
-
Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T et al. (2001) Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet 10:2539-47
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2539-2547
-
-
Broughton, B.C.1
Berneburg, M.2
Fawcett, H.3
Taylor, E.M.4
Arlett, C.F.5
Nardo, T.6
-
3
-
-
0034027382
-
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 et al. (2000) Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. Cancer Res 60:1974-82
-
(2000)
Cancer Res
, vol.60
, pp. 1974-1982
-
-
Chavanne, F.1
Broughton, B.C.2
Pietra, D.3
Nardo, T.4
Browitt, A.5
Lehmann, A.R.6
-
4
-
-
0036280841
-
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients
-
Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D et al. (2002) Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J Invest Dermatol 118:972-82
-
(2002)
J Invest Dermatol
, vol.118
, pp. 972-982
-
-
Emmert, S.1
Slor, H.2
Busch, D.B.3
Batko, S.4
Albert, R.B.5
Coleman, D.6
-
5
-
-
0033790327
-
A new xeroderma pigmentosum group C poly-AT intron insertion/deletion polymorphism
-
Khan SG, Metter EJ, Tarone RE, Bohr VA, Grossman L, Hedayati M et al. (2000) A new xeroderma pigmentosum group C poly-AT intron insertion/deletion polymorphism. Carcinogenesis 21:1821-5
-
(2000)
Carcinogenesis
, vol.21
, pp. 1821-1825
-
-
Khan, S.G.1
Metter, E.J.2
Tarone, R.E.3
Bohr, V.A.4
Grossman, L.5
Hedayati, M.6
-
6
-
-
0037102580
-
The human XPC DNA repair gene: Arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function
-
Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T et al. (2002) The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res 30:3624-31
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3624-3631
-
-
Khan, S.G.1
Muniz-Medina, V.2
Shahlavi, T.3
Baker, C.C.4
Inui, H.5
Ueda, T.6
-
7
-
-
29744457502
-
Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients
-
Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H et al. (2006) Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients. Carcinogenesis 27:84-94
-
(2006)
Carcinogenesis
, vol.27
, pp. 84-94
-
-
Khan, S.G.1
Oh, K.S.2
Shahlavi, T.3
Ueda, T.4
Busch, D.B.5
Inui, H.6
-
8
-
-
0034518194
-
Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: Sun protection prolongs life
-
Slor H, Batko S, Khan SG, Sobe T, Emmert S, Khadavi A et al. (2000) Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. J Invest Dermatol 115: 974-80
-
(2000)
J Invest Dermatol
, vol.115
, pp. 974-980
-
-
Slor, H.1
Batko, S.2
Khan, S.G.3
Sobe, T.4
Emmert, S.5
Khadavi, A.6
-
9
-
-
0033082322
-
Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer
-
van Steeg H, Kraemer KH (1999) Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer. Mol Med Today 5:86-94
-
(1999)
Mol Med Today
, vol.5
, pp. 86-94
-
-
Van Steeg, H.1
Kraemer, K.H.2
|