-
1
-
-
0023130695
-
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
-
DOI 10.1001/archderm.123.2.241
-
K. H. Kraemer M. M. Lee J. Scotto Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases Arch. Dermatol. 1987 123 241 250 (Pubitemid 17002499)
-
(1987)
Archives of Dermatology
, vol.123
, Issue.2
, pp. 241-250
-
-
Kraemer, K.H.1
Lee, M.M.2
Scotto, J.3
-
2
-
-
0000922826
-
On diseases of the skin including exanthemata, volume III
-
F. Hebra M. Kaposi On diseases of the skin including exanthemata, volume III New Sydenham Soc. 1874 61 252 258
-
(1874)
New Sydenham Soc.
, vol.61
, pp. 252-258
-
-
Hebra, F.1
Kaposi, M.2
-
3
-
-
0002834557
-
Ueber das 'Xeroderma pigmentosum' (Kaposi): Lioderma essentialis cum melanosi et telangiectasia
-
A. Neisser Ueber das 'Xeroderma pigmentosum' (Kaposi): Lioderma essentialis cum melanosi et telangiectasia Vierteljahrschr. Dermatol. Syphil. 1883 47 62
-
(1883)
Vierteljahrschr. Dermatol. Syphil.
, pp. 47-62
-
-
Neisser, A.1
-
5
-
-
0014421995
-
Defective repair replication of DNA in xeroderma pigmentosum
-
J. E. Cleaver Defective repair replication of DNA in xeroderma pigmentosum Nature 1968 218 652 656
-
(1968)
Nature
, vol.218
, pp. 652-656
-
-
Cleaver, J.E.1
-
6
-
-
0000260488
-
Evidence that ultraviolet-induced thymine dimers in DNA cause biological damage
-
R. B. Setlow J. K. Setlow Evidence that ultraviolet-induced thymine dimers in DNA cause biological damage Proc. Natl. Acad. Sci. U. S. A. 1962 48 1250 1257
-
(1962)
Proc. Natl. Acad. Sci. U. S. A.
, vol.48
, pp. 1250-1257
-
-
Setlow, R.B.1
Setlow, J.K.2
-
7
-
-
0014954823
-
Defect in DNA synthesis in skin of patients with xeroderma pigmentosum demonstrated in vivo
-
J. H. Epstein K. Fukuyama W. B. Reed W. L. Epstein Defect in DNA synthesis in skin of patients with xeroderma pigmentosum demonstrated in vivo Science 1970 168 1477 1478
-
(1970)
Science
, vol.168
, pp. 1477-1478
-
-
Epstein, J.H.1
Fukuyama, K.2
Reed, W.B.3
Epstein, W.L.4
-
8
-
-
0015067050
-
Ultraviolet-stimulated thymidine incorporation in xeroderma pigmentosum lymphocytes
-
P. G. Burk M. A. Lutzner D. D. Clarke J. H. Robbins Ultraviolet- stimulated thymidine incorporation in xeroderma pigmentosum lymphocytes J. Lab Clin. Med. 1971 77 759 767
-
(1971)
J. Lab Clin. Med.
, vol.77
, pp. 759-767
-
-
Burk, P.G.1
Lutzner, M.A.2
Clarke, D.D.3
Robbins, J.H.4
-
9
-
-
0015310373
-
Xeroderma pigmentosum: Variants with normal DNA repair and normal sensitivity to ultraviolet light
-
J. E. Cleaver Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to ultraviolet light J. Invest. Dermatol. 1972 58 124 128
-
(1972)
J. Invest. Dermatol.
, vol.58
, pp. 124-128
-
-
Cleaver, J.E.1
-
11
-
-
0015516045
-
Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization
-
E. A. de Weerd-Kastelein W. Keijzer D. Bootsma Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization Nat. New Biol. 1972 238 80 83
-
(1972)
Nat. New Biol.
, vol.238
, pp. 80-83
-
-
De Weerd-Kastelein, E.A.1
Keijzer, W.2
Bootsma, D.3
-
12
-
-
66449088745
-
Xeroderma pigmentosum
-
ed. M. Ruggieri, I. Pascual-Castroviejo and C. Di Rocco, ch. 51
-
M. Stefanini and K. H. Kraemer, Xeroderma pigmentosum, in Neurocutaneous Diseases, ed., M. Ruggieri, I. Pascual-Castroviejo, and, C. Di Rocco, 2008, ch. 51, 771-792
-
(2008)
Neurocutaneous Diseases
, pp. 771-792
-
-
Stefanini, M.1
Kraemer, K.H.2
-
13
-
-
70350065725
-
Disorders of nucleotide excision repair: The genetic and molecular basis of heterogeneity
-
J. E. Cleaver E. T. Lam I. Revet Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity Nat. Rev. Genet. 2009 10 756 768
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 756-768
-
-
Cleaver, J.E.1
Lam, E.T.2
Revet, I.3
-
14
-
-
85015066476
-
DNA damage and repair
-
DOI 10.1038/nature01408
-
E. C. Friedberg DNA damage and repair Nature 2003 421 436 440 (Pubitemid 36157951)
-
(2003)
Nature
, vol.421
, Issue.6921
, pp. 436-440
-
-
Friedberg, E.C.1
-
15
-
-
0033578040
-
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η
-
DOI 10.1038/21447
-
C. Masutani R. Kusumoto A. Yamada N. Dohmae M. Yokoi M. Yuasa M. Araki S. Iwai K. Takio F. Hanaoka The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta Nature 1999 399 700 704 (Pubitemid 29289067)
-
(1999)
Nature
, vol.399
, Issue.6737
, pp. 700-704
-
-
Masutani, C.1
Kusumoto, R.2
Yamada, A.3
Dohmae, N.4
Yokol, M.5
Yuasa, M.6
Araki, M.7
Iwai, S.8
Takio, K.9
Hanaoka, F.10
-
16
-
-
0015982924
-
Xeroderma pigmentosum: An inherited disease with sun-sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair
-
J. H. Robbins K. H. Kraemer M. A. Lutzner B. W. Festoff H. G. Coon Xeroderma pigmentosum: an inherited disease with sun-sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair Ann. Intern. Med 1974 80 221 248
-
(1974)
Ann. Intern. Med
, vol.80
, pp. 221-248
-
-
Robbins, J.H.1
Kraemer, K.H.2
Lutzner, M.A.3
Festoff, B.W.4
Coon, H.G.5
-
17
-
-
0017360241
-
DNA repair characteristics and skin cancers of Xeroderma pigmentosum patients in Japan
-
H. Takebe Y. Miki T. Kozuka J. I. Furuyama K. Tanaka M. S. Sasaki Y. Fujiwara H. Akiba DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan Cancer Res. 1977 37 490 495 (Pubitemid 8030395)
-
(1977)
Cancer Research
, vol.37
, Issue.2
, pp. 490-495
-
-
Takebe, H.1
Miki, Y.2
Kozuka, T.3
-
18
-
-
42249101874
-
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
-
W. J. Kleijer V. Laugel M. Berneburg T. Nardo H. Fawcett A. Gratchev N. G. Jaspers A. Sarasin M. Stefanini A. R. Lehmann Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy DNA Repair (Amst) 2008 7 744 750
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 744-750
-
-
Kleijer, W.J.1
Laugel, V.2
Berneburg, M.3
Nardo, T.4
Fawcett, H.5
Gratchev, A.6
Jaspers, N.G.7
Sarasin, A.8
Stefanini, M.9
Lehmann, A.R.10
-
19
-
-
79951785364
-
Cancer and neurologic degeneration in xeroderma pigmentosum: Long term follow-up characterises the role of DNA repair
-
P. T. Bradford A. M. Goldstein D. Tamura S. G. Khan T. Ueda J. Boyle K. S. Oh K. Imoto H. Inui S. I. Moriwaki S. Emmert K. M. Pike A. Raziuddin T. M. Plona J. J. Digiovanna M. A. Tucker K. H. Kraemer Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair J. Med. Genet. 2010 48 168 176
-
(2010)
J. Med. Genet.
, vol.48
, pp. 168-176
-
-
Bradford, P.T.1
Goldstein, A.M.2
Tamura, D.3
Khan, S.G.4
Ueda, T.5
Boyle, J.6
Oh, K.S.7
Imoto, K.8
Inui, H.9
Moriwaki, S.I.10
Emmert, S.11
Pike, K.M.12
Raziuddin, A.13
Plona, T.M.14
Digiovanna, J.J.15
Tucker, M.A.16
Kraemer, K.H.17
-
21
-
-
74449093973
-
A comprehensive catalogue of somatic mutations from a human cancer genome
-
E. D. Pleasance R. K. Cheetham et al., A comprehensive catalogue of somatic mutations from a human cancer genome Nature 2010 463 191 197
-
(2010)
Nature
, vol.463
, pp. 191-197
-
-
Pleasance, E.D.1
Cheetham, R.K.2
-
22
-
-
14644430466
-
The role of UV induced lesions in skin carcinogenesis: An overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors
-
DOI 10.1016/j.mrfmmm.2004.11.013
-
L. Daya-Grosjean A. Sarasin The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors Mutat. Res. 2005 571 43 56 (Pubitemid 40313431)
-
(2005)
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
, vol.571
, Issue.1-2 SPEC. ISSUE
, pp. 43-56
-
-
Daya-Grosjean, L.1
Sarasin, A.2
-
23
-
-
0028110878
-
The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer: The xeroderma pigmentosum paradigm
-
DOI 10.1001/archderm.130.8.1018
-
K. H. Kraemer M. M. Lee A. D. Andrews W. C. Lambert The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm Arch. Dermatol. 1994 130 1018 1021 (Pubitemid 24255035)
-
(1994)
Archives of Dermatology
, vol.130
, Issue.8
, pp. 1018-1021
-
-
Kraemer, K.H.1
Lee, M.-M.2
Andrews, A.D.3
Lambert, W.C.4
-
25
-
-
0031920594
-
Defective global genome repair in XPC mice is associated with skin cancer susceptibility but not with sensitivity to UVB induced erythema and edema
-
DOI 10.1046/j.1523-1747.1998.00173.x
-
R. J. Berg H. J. Ruven A. T. Sands F. R. de Gruijl L. H. Mullenders Defective global genome repair in XPC mice is associated with skin cancer susceptibility but not with sensitivity to UVB induced erythema and edema J. Invest. Dermatol. 1998 110 405 409 (Pubitemid 28158658)
-
(1998)
Journal of Investigative Dermatology
, vol.110
, Issue.4
, pp. 405-409
-
-
Berg, R.J.W.1
Ruven, H.J.T.2
Sands, A.T.3
De Gruijl, F.R.4
Mullenders, L.H.F.5
-
26
-
-
0034659755
-
Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression
-
J. Garssen H. van Steeg F. de Gruijl J. de Boer G. T. van der Horst H. van Kranen H. van Loveren M. van Dijk A. Fluitman G. Weeda J. H. Hoeijmakers Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression J. Immunol. 2000 164 6199 6205 (Pubitemid 30408798)
-
(2000)
Journal of Immunology
, vol.164
, Issue.12
, pp. 6199-6205
-
-
Garssen, J.1
Van Steeg, H.2
De Gruijl, F.3
De Boer, J.4
Van Der Horst, G.T.J.5
Van Kranen, H.6
Van Loveren, H.7
Van Dijk, M.8
Fluitman, A.9
Weeda, G.10
Hoeijmakers, J.H.J.11
-
27
-
-
0023544661
-
Mutations and homologous recombination induced in mammalian cells by metabolites of benzo[a]pyrene and 1-nitropyrene
-
V. M. Maher J. D. Patton J. L. Yang Y. Y. Wang L. L. Yang A. E. Aust N. Bhattacharyya J. J. McCormick Mutations and homologous recombination induced in mammalian cells by metabolites of benzo[a]-pyrene and 1-nitropyrene Environ. Health Perspect. 1987 76 33 39 (Pubitemid 18075920)
-
(1987)
Environmental Health Perspectives
, vol.76
, pp. 33-39
-
-
Maher, V.M.1
Patton, J.D.2
Yang, J.-L.3
Wang, Y.4
Yang, L.L.5
Aust, A.E.6
Bhattacharyya, N.7
McCormick, J.J.8
-
29
-
-
0019464052
-
Xeroderma pigmentosum and medulloblastoma: Chromosomal damage to lymphocytes during radiotherapy
-
DOI 10.2307/3575764
-
F. Giannelli J. Avery P. E. Polani C. Terrell V. Giammusso Xeroderma pigmentosum and medulloblastoma: chromosomal damage to lymphocytes during radiotherapy Radiat. Res. 1981 88 194 208 (Pubitemid 11008389)
-
(1981)
Radiation Research
, vol.88
, Issue.1
, pp. 194-208
-
-
Giannelli, F.1
Avery, J.2
Polani, P.E.3
-
30
-
-
0034654169
-
Ultraviolet B radiation-induced skin cancer in mice defective in the Xpc, Trp53, and Apex (HAP1) genes: Genotype-specific effects on cancer predisposition and pathology of tumors
-
D. L. Cheo L. B. Meira D. K. Burns A. M. Reis T. Issac E. C. Friedberg Ultraviolet B radiation-induced skin cancer in mice defective in the Xpc, Trp53, and Apex (HAP1) genes: genotype-specific effects on cancer predisposition and pathology of tumors Cancer Res. 2000 60 1580 1584 (Pubitemid 30183428)
-
(2000)
Cancer Research
, vol.60
, Issue.6
, pp. 1580-1584
-
-
Cheo, D.L.1
Meira, L.B.2
Burns, D.K.3
Reis, A.M.4
Issac, T.5
Friedberg, E.C.6
-
32
-
-
44949263779
-
The 8,5′-cyclopurine-2′-deoxynucleosides: Candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair
-
P. J. Brooks The 8,5′-cyclopurine-2′-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair DNA Repair (Amst) 2008 7 1168 1179
-
(2008)
DNA Repair (Amst)
, vol.7
, pp. 1168-1179
-
-
Brooks, P.J.1
-
33
-
-
0018861831
-
Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum
-
M. Stefanini W. Keijzer L. Dalpra R. Elli M. N. Porro B. Nicoletti F. Nuzzo Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum Hum. Genet. 1980 54 177 182 (Pubitemid 10111811)
-
(1980)
Human Genetics
, vol.54
, Issue.2
, pp. 177-182
-
-
Stefanini, M.1
Keijzer, W.2
Dalpra, L.3
-
34
-
-
0018905307
-
A rapid procedure for measurement of DNA repair in human fibroblasts and for complementation analysis of xeroderma pigmentosum cells
-
A. R. Lehmann S. Stevens A rapid procedure for measurement of DNA repair in human fibroblasts and for complementation analysis of xeroderma pigmentosum cells Mutat. Res. 1980 69 177 190 (Pubitemid 10161432)
-
(1980)
Mutation Research
, vol.69
, Issue.1
, pp. 177-190
-
-
Lehmann, A.R.1
Stevens, S.2
-
35
-
-
62549104281
-
A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU)
-
S. Limsirichaikul A. Niimi H. Fawcett A. Lehmann S. Yamashita T. Ogi A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU) Nucl. Acids Res. 2009 37 e31
-
(2009)
Nucl. Acids Res.
, vol.37
, pp. 31
-
-
Limsirichaikul, S.1
Niimi, A.2
Fawcett, H.3
Lehmann, A.4
Yamashita, S.5
Ogi, T.6
-
36
-
-
0016727657
-
The influence of caffeine on cell survival in excision-proficient and excision-deficient xeroderma pigmentosum and normal human cell strains following ultraviolet light irradiation
-
C. F. Arlett S. A. Harcourt B. C. Broughton The influence of caffeine on cell survival in excision-proficient and excision-deficient xeroderma pigmentosum and normal human cell strains following ultraviolet light irradiation Mutat. Res. 1975 33 341 346
-
(1975)
Mutat. Res.
, vol.33
, pp. 341-346
-
-
Arlett, C.F.1
Harcourt, S.A.2
Broughton, B.C.3
-
37
-
-
18244402410
-
Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients
-
DOI 10.1073/pnas.022473899
-
B. C. Broughton A. Cordonnier W. J. Kleijer N. G. Jaspers H. Fawcett A. Raams V. H. Garritsen A. Stary M. F. Avril F. Boudsocq C. Masutani F. Hanaoka R. P. Fuchs A. Sarasin A. R. Lehmann Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients Proc. Natl. Acad. Sci. U. S. A. 2002 99 815 820 (Pubitemid 34106593)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.2
, pp. 815-820
-
-
Broughton, B.C.1
Cordonnier, A.2
Kleijer, W.J.3
Jaspers, N.G.J.4
Fawcett, H.5
Raams, A.6
Garritsen, V.H.7
Stary, A.8
Avril, M.-F.9
Boudsocq, F.10
Masutani, C.11
Hanaoka, F.12
Fuchs, R.P.13
Sarasin, A.14
Lehmann, A.R.15
-
38
-
-
0034027382
-
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels
-
F. Chavanne B. C. Broughton D. Pietra T. Nardo A. Browitt A. R. Lehmann M. Stefanini Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein and transcript levels Cancer Res. 2000 60 1974 1982 (Pubitemid 30207660)
-
(2000)
Cancer Research
, vol.60
, Issue.7
, pp. 1974-1982
-
-
Chavanne, F.1
Broughton, B.C.2
Pietra, D.3
Nardo, T.4
Browitt, A.5
Lehmann, A.R.6
Stefanini, M.7
-
39
-
-
77949945101
-
Diagnosing xeroderma pigmentosum group C by immunohistochemistry
-
S. de Feraudy I. Boubakour-Azzouz S. Fraitag M. Berneburg L. Chan K. Chew C. L. Clericuzio B. Cunningham W. D. Tope J. E. Cleaver Diagnosing xeroderma pigmentosum group C by immunohistochemistry Am. J. Dermatopathol. 2010 32 109 117
-
(2010)
Am. J. Dermatopathol.
, vol.32
, pp. 109-117
-
-
De Feraudy, S.1
Boubakour-Azzouz, I.2
Fraitag, S.3
Berneburg, M.4
Chan, L.5
Chew, K.6
Clericuzio, C.L.7
Cunningham, B.8
Tope, W.D.9
Cleaver, J.E.10
-
40
-
-
84871234515
-
-
Xeroderma pigmentosum support group []
-
Xeroderma pigmentosum support group [http://joomla.xpsupportgroup.org.uk]
-
-
-
-
41
-
-
84871196079
-
-
XP family support group [] and xeroderma pigmentosum society [http://www.xps.org/]
-
XP family support group [http://www.xpfamilysupport.org] and xeroderma pigmentosum society [http://www.xps.org/]
-
-
-
-
42
-
-
84871202454
-
-
Enfants de la lune []
-
Enfants de la lune [http://asso.orpha.net/AXP]
-
-
-
-
43
-
-
84871184571
-
-
XP Freu(n)de []
-
XP Freu(n)de [http://www.xerodermapigmentosum.de]
-
-
-
|