-
1
-
-
0037700363
-
-
Medizinische Jahrbücher, Wien
-
Kaposi M. Xeroderma pigmentosum. Medizinische Jahrbücher, Wien, 1882: 619-633.
-
(1882)
Xeroderma Pigmentosum
, pp. 619-633
-
-
Kaposi, M.1
-
3
-
-
0014954823
-
Defect in DNA synthesis in skin of patients with xeroderma pigmentosum demonstrated in vivo
-
Epstein JH, Fukuyama K, Reed WB, Epstein WL. 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
-
4
-
-
0013329027
-
Xeroderma pigmentosum
-
Braun-Falco O, Plewig G, Wolff HH. Springer Verlag
-
Hölzle E. Xeroderma Pigmentosum. In: Braun-Falco O, Plewig G, Wolff HH: Dermatologie and Venerology. Springer Verlag, 1997: 515-517.
-
(1997)
Dermatologie and Venerology
, pp. 515-517
-
-
Hölzle, E.1
-
5
-
-
0020473187
-
Early onset of skin and oral cavity neoplasms in xeroderma pigmentosum
-
Kraemer KH, Lee MM, Scotto J. Early onset of skin and oral cavity neoplasms in xeroderma pigmentosum. Lancet 1982; 1: 56-57.
-
(1982)
Lancet
, vol.1
, pp. 56-57
-
-
Kraemer, K.H.1
Lee, M.M.2
Scotto, J.3
-
6
-
-
0023551322
-
The risk of malignant melanoma, internal malignancy and mortality in xeroderma pigmentosum patients
-
English JSC, Swerdlow AJ. The risk of malignant melanoma, internal malignancy and mortality in xeroderma pigmentosum patients. Br J Dermatol 1987; 117: 457-461.
-
(1987)
Br J Dermatol
, vol.117
, pp. 457-461
-
-
English, J.S.C.1
Swerdlow, A.J.2
-
7
-
-
0020411718
-
Skin tumors of xeroderma pigmentosum (I)
-
Kobayashi M, Satoh Y, Irimajiri T, Mitoh Y, Kozuka T, Sato K, Ichihashi M, Nakanishi T. Skin tumors of xeroderma pigmentosum (I). J Dermatol 1982; 9: 319-322.
-
(1982)
J Dermatol
, vol.9
, pp. 319-322
-
-
Kobayashi, M.1
Satoh, Y.2
Irimajiri, T.3
Mitoh, Y.4
Kozuka, T.5
Sato, K.6
Ichihashi, M.7
Nakanishi, T.8
-
9
-
-
0032839699
-
Angiosarcoma of the head and neck associated with xeroderma pigmentosum variant
-
De Silva BD, Nawroz I, Doherty VR. Angiosarcoma of the head and neck associated with xeroderma pigmentosum variant. Br J Dermatol 1999; 141: 166-167.
-
(1999)
Br J Dermatol
, vol.141
, pp. 166-167
-
-
De Silva, B.D.1
Nawroz, I.2
Doherty, V.R.3
-
10
-
-
0027414885
-
Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: Evidence for a neurodegeneration in later life caused by defective DNA repair
-
Robbins JH, Brumback RA, Moshell AN. Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair. Eur Neurol 1993; 33: 188-190.
-
(1993)
Eur Neurol
, vol.33
, pp. 188-190
-
-
Robbins, J.H.1
Brumback, R.A.2
Moshell, A.N.3
-
11
-
-
0023879690
-
Xeroderma pigmentosum. Defective DNA repair causes skin cancer and neurodegeneration
-
Robbins JH. Xeroderma pigmentosum. Defective DNA repair causes skin cancer and neurodegeneration. JAMA 1988; 60: 384-388.
-
(1988)
JAMA
, vol.60
, pp. 384-388
-
-
Robbins, J.H.1
-
12
-
-
0034283878
-
Linking DNA damage and neurodegeneration
-
Rolig RL, McKinnon PJ. Linking DNA damage and neurodegeneration. Trends Neurosci 2000; 23: 417-424.
-
(2000)
Trends Neurosci
, vol.23
, pp. 417-424
-
-
Rolig, R.L.1
McKinnon, P.J.2
-
14
-
-
0025893412
-
Malignant schwannoma associated with xeroderma pigmentosum in a patient belonging to complementation group D
-
Nakamura T, Ono T, Yoshimura K, Arao T, Kondo S, Ichihashi M, Matsumoto A, Fujiwara Y. Malignant schwannoma associated with xeroderma pigmentosum in a patient belonging to complementation group D. J Am Acad Dermatol 1991; 25: 349-353.
-
(1991)
J Am Acad Dermatol
, vol.25
, pp. 349-353
-
-
Nakamura, T.1
Ono, T.2
Yoshimura, K.3
Arao, T.4
Kondo, S.5
Ichihashi, M.6
Matsumoto, A.7
Fujiwara, Y.8
-
17
-
-
0028073201
-
Penetrating keratoplasty in xeroderma pigmentosum. Case reports and review of the literature
-
Jalali S, Boghani S, Vemuganti GK, Ratnakar KS, Rao GN. Penetrating keratoplasty in xeroderma pigmentosum. Case reports and review of the literature. Cornea 1994; 13: 527-533.
-
(1994)
Cornea
, vol.13
, pp. 527-533
-
-
Jalali, S.1
Boghani, S.2
Vemuganti, G.K.3
Ratnakar, K.S.4
Rao, G.N.5
-
18
-
-
0016181386
-
Relationship between chromosomal instability and leukemia
-
Schroeder TM. Relationship between chromosomal instability and leukemia. Hämatol Bluttransfus 1974; 14: 94-96.
-
(1974)
Hämatol Bluttransfus
, vol.14
, pp. 94-96
-
-
Schroeder, T.M.1
-
19
-
-
0028787689
-
Separation of protein factors that correct the defects in the seven complementation groups of xeroderma pigmentosum cells
-
Tateishi S, Mori S, Sugano T, Hori N, Ohtsuka E, Yamaizumi M. Separation of protein factors that correct the defects in the seven complementation groups of xeroderma pigmentosum cells. J Biochem 1995; 118: 819-824.
-
(1995)
J Biochem
, vol.118
, pp. 819-824
-
-
Tateishi, S.1
Mori, S.2
Sugano, T.3
Hori, N.4
Ohtsuka, E.5
Yamaizumi, M.6
-
21
-
-
0035893755
-
A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer
-
Park DJ, Stoehlmacher J, Zhang W, Tsao-Wei DD, Groshen S, Lenz HJ. A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer. Cancer Res 2001; 61: 8654-8658.
-
(2001)
Cancer Res
, vol.61
, pp. 8654-8658
-
-
Park, D.J.1
Stoehlmacher, J.2
Zhang, W.3
Tsao-Wei, D.D.4
Groshen, S.5
Lenz, H.J.6
-
22
-
-
0016700463
-
Sister chromatid exchange in xeroderma pigmentosum cells that are defective in DNA excision repair or post-replication repair
-
Wolff S, Bodycote J, Thomas GH, Cleaver JE. Sister chromatid exchange in xeroderma pigmentosum cells that are defective in DNA excision repair or post-replication repair. Genetics 1975; 81: 349-355.
-
(1975)
Genetics
, vol.81
, pp. 349-355
-
-
Wolff, S.1
Bodycote, J.2
Thomas, G.H.3
Cleaver, J.E.4
-
23
-
-
0030771474
-
PCR-RFLP analysis as an aid to genetic counseling of families of Japanese patients with group A xeroderma pigmentosum
-
Maeda T, Sato K, Minami H, Taguchi H, Yoshikawa K. PCR-RFLP analysis as an aid to genetic counseling of families of Japanese patients with group A xeroderma pigmentosum. J Invest Dermatol 1997; 109: 306-309.
-
(1997)
J Invest Dermatol
, vol.109
, pp. 306-309
-
-
Maeda, T.1
Sato, K.2
Minami, H.3
Taguchi, H.4
Yoshikawa, K.5
-
24
-
-
0034732890
-
Genomic heterogeneity of nucleotide excision repair
-
Balajee AS, Bohr VA. Genomic heterogeneity of nucleotide excision repair. Gene 2000; 250: 15-30.
-
(2000)
Gene
, vol.250
, pp. 15-30
-
-
Balajee, A.S.1
Bohr, V.A.2
-
25
-
-
0034054019
-
Nucleotide excision repair and human syndromes
-
de Boer J, Hoeijmakers JH. Nucleotide excision repair and human syndromes. Carcinogenesis 2000; 21: 453-460.
-
(2000)
Carcinogenesis
, vol.21
, pp. 453-460
-
-
De Boer, J.1
Hoeijmakers, J.H.2
-
26
-
-
0013382238
-
Sunlight-induced pyrimidine dimers in human cells in vitro
-
Trosko JE, Krause D, Isoun M. Sunlight-induced pyrimidine dimers in human cells in vitro. Nature 1970; 22; 8358-8359.
-
(1970)
Nature
, vol.22
, pp. 8358-8359
-
-
Trosko, J.E.1
Krause, D.2
Isoun, M.3
-
27
-
-
0022378476
-
Cyclobutane pyrimidine dimers and (6-4) photoproducts block polymerization by DNA polymerase I
-
Chan GL, Doetsch PW, Haseltine WA. Cyclobutane pyrimidine dimers and (6-4) photoproducts block polymerization by DNA polymerase I. Biochemistry 1985; 24: 5723-5728.
-
(1985)
Biochemistry
, vol.24
, pp. 5723-5728
-
-
Chan, G.L.1
Doetsch, P.W.2
Haseltine, W.A.3
-
29
-
-
0035472223
-
UV-induced DNA damage, repair, mutations and oncogenic pathways in skin cancer
-
de Gruijl FR, van Kranen HJ, Mullenders LH. UV-induced DNA damage, repair, mutations and oncogenic pathways in skin cancer. J Photochem Photobiol 2001; 63: 19-27.
-
(2001)
J Photochem Photobiol
, vol.63
, pp. 19-27
-
-
De Gruijl, F.R.1
Van Kranen, H.J.2
Mullenders, L.H.3
-
30
-
-
0034732996
-
Mutagenesis and carcinogenesis in nucleotide excision repair-deficient XPA knock out mice
-
van Steeg H, Mullenders LH, Vijg J. Mutagenesis and carcinogenesis in nucleotide excision repair-deficient XPA knock out mice. Mutat Res 2000; 450: 167-180.
-
(2000)
Mutat Res
, vol.450
, pp. 167-180
-
-
Van Steeg, H.1
Mullenders, L.H.2
Vijg, J.3
-
31
-
-
0028148738
-
Far less frequent mutations in ras genes than in the p53 gene in skin tumors of xeroderma pigmentosum patients
-
Sato M, Nishigori C, Lu Y, Zghal M, Yagi T, Takebe H. Far less frequent mutations in ras genes than in the p53 gene in skin tumors of xeroderma pigmentosum patients. Mol Carcinog 1994; 11: 98-105.
-
(1994)
Mol Carcinog
, vol.11
, pp. 98-105
-
-
Sato, M.1
Nishigori, C.2
Lu, Y.3
Zghal, M.4
Yagi, T.5
Takebe, H.6
-
32
-
-
0022006609
-
Impaired immune function in patients with xeroderma pigmentosum
-
Morison WL, Bucana C, Hashem N, Kripke ML, Cleaver JE, German JL. Impaired immune function in patients with xeroderma pigmentosum. Cancer Res 1985; 45: 3929-3931.
-
(1985)
Cancer Res
, vol.45
, pp. 3929-3931
-
-
Morison, W.L.1
Bucana, C.2
Hashem, N.3
Kripke, M.L.4
Cleaver, J.E.5
German, J.L.6
-
33
-
-
0024211180
-
Impairment of natural-killer-cell activity in xeroderma pigmentosum
-
Norris PG, Limb GA, Hamblin AS, Hawk JL. Impairment of natural-killer-cell activity in xeroderma pigmentosum. N Engl J Med 1988; 319: 1668-1669.
-
(1988)
N Engl J Med
, vol.319
, pp. 1668-1669
-
-
Norris, P.G.1
Limb, G.A.2
Hamblin, A.S.3
Hawk, J.L.4
-
34
-
-
12644305856
-
Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals
-
Ahrens C, Grewe M, Berneburg M, Grether-Beck S, Quilliet X, Mezzina M, Sarasin A, Lehmann AR, Arlett CF, Krutmann J. Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals. Proc Natl Acad Sci U S A 1997; 94: 6837-6841.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 6837-6841
-
-
Ahrens, C.1
Grewe, M.2
Berneburg, M.3
Grether-Beck, S.4
Quilliet, X.5
Mezzina, M.6
Sarasin, A.7
Lehmann, A.R.8
Arlett, C.F.9
Krutmann, J.10
-
35
-
-
0034727603
-
Cockayne syndrome and xeroderma pigmentosum
-
Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH. Cockayne syndrome and xeroderma pigmentosum. Neurology 2000; 55: 1442-1449.
-
(2000)
Neurology
, vol.55
, pp. 1442-1449
-
-
Rapin, I.1
Lindenbaum, Y.2
Dickson, D.W.3
Kraemer, K.H.4
Robbins, J.H.5
-
36
-
-
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, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR. 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 2001; 10: 2539-2547.
-
(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
Stefanini, M.7
Menefee, E.8
Price, V.H.9
Queille, S.10
Sarasin, A.11
Bohnert, E.12
Krutmann, J.13
Davidson, R.14
Kraemer, K.H.15
Lehmann, A.R.16
-
37
-
-
0034161270
-
UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome
-
Berneburg M, Lowe JE, Nardo T, Araujo S, Fousteri MI, Green MH, Krutmann J, Wood RD, Stefanini M, Lehmann AR. UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome. EMBO J 2000; 19: 1157-1166.
-
(2000)
EMBO J
, vol.19
, pp. 1157-1166
-
-
Berneburg, M.1
Lowe, J.E.2
Nardo, T.3
Araujo, S.4
Fousteri, M.I.5
Green, M.H.6
Krutmann, J.7
Wood, R.D.8
Stefanini, M.9
Lehmann, A.R.10
-
38
-
-
0035010089
-
Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes
-
quiz 921-924
-
Itin PH, Sarasin A, Pittelkow MR. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 2001; 44: 891-920; quiz 921-924.
-
(2001)
J Am Acad Dermatol
, vol.44
, pp. 891-920
-
-
Itin, P.H.1
Sarasin, A.2
Pittelkow, M.R.3
-
39
-
-
0035176067
-
The xeroderma pigmentosum group D (XPD) gene: One gene, two functions, three diseases
-
Lehmann AR. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev 2001; 15: 15-23.
-
(2001)
Genes Dev
, vol.15
, pp. 15-23
-
-
Lehmann, A.R.1
-
40
-
-
0027431065
-
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: Absence of skin tumors despite severe deficiency of DNA excision repair
-
Scott RJ, Itin P, Kleijer WJ, Kolb K, Arlett C, Muller H. Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. J Am Acad Dermatol 1993; 29: 883-889.
-
(1993)
J Am Acad Dermatol
, vol.29
, pp. 883-889
-
-
Scott, R.J.1
Itin, P.2
Kleijer, W.J.3
Kolb, K.4
Arlett, C.5
Muller, H.6
-
41
-
-
0023911552
-
Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin
-
Kraemer KH, DiGiovanna JJ, Moshell AN, Tarone RE, Peck GL. Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med 1988; 318: 1633-1637.
-
(1988)
N Engl J Med
, vol.318
, pp. 1633-1637
-
-
Kraemer, K.H.1
DiGiovanna, J.J.2
Moshell, A.N.3
Tarone, R.E.4
Peck, G.L.5
-
42
-
-
0020050580
-
Tumorprophylaxe bei Xeroderma pigmentosum mit aromatischem retinoid (Ro-9359)
-
Braun-Falco O, Galosi A, Dorn M. Tumorprophylaxe bei Xeroderma Pigmentosum mit aromatischem Retinoid (Ro-9359). Der Hautarzt 1982; 33: 445-448.
-
(1982)
Der Hautarzt
, vol.33
, pp. 445-448
-
-
Braun-Falco, O.1
Galosi, A.2
Dorn, M.3
-
43
-
-
0014913660
-
Xeroderma pigmentosum - Five-year arrest after total resurfacing of the face
-
Gleason MC. Xeroderma pigmentosum - five-year arrest after total resurfacing of the face. Plast Reconstr Surg 1970; 46: 577-581.
-
(1970)
Plast Reconstr Surg
, vol.46
, pp. 577-581
-
-
Gleason, M.C.1
-
44
-
-
0034652351
-
Enzyme plus light therapy to repair DNA damage in ultraviolet-B-irradiated human skin
-
Stege H, Roza L, Vink AA, Grewe M, Ruzicka T, Grether-Beck S, Krutmann J. Enzyme plus light therapy to repair DNA damage in ultraviolet-B-irradiated human skin. Proc Natl Acad Sci U S A 2000; 97: 1790-1795.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 1790-1795
-
-
Stege, H.1
Roza, L.2
Vink, A.A.3
Grewe, M.4
Ruzicka, T.5
Grether-Beck, S.6
Krutmann, J.7
-
45
-
-
0342574127
-
Restoration of ultraviolet-induced unscheduled DNA synthesis of xeroderma pigmentosum cells by the concomitant treatment with bacteriophage T4 endonuclease V and HVJ (Sendai virus)
-
Tanaka K, Sekiguchi M, Okada Y. Restoration of ultraviolet-induced unscheduled DNA synthesis of xeroderma pigmentosum cells by the concomitant treatment with bacteriophage T4 endonuclease V and HVJ (Sendai virus). Proc Nad Acad Sci U S A 1975; 72: 4071-4075.
-
(1975)
Proc Nad Acad Sci U S A
, vol.72
, pp. 4071-4075
-
-
Tanaka, K.1
Sekiguchi, M.2
Okada, Y.3
-
46
-
-
0035220631
-
Cutaneous gene transfer and therapy: The present and the future
-
Spirito F, Meneguzzi G, Danos O, Mezzina M. Cutaneous gene transfer and therapy: the present and the future. J Gene Med 2001; 3: 21-31.
-
(2001)
J Gene Med
, vol.3
, pp. 21-31
-
-
Spirito, F.1
Meneguzzi, G.2
Danos, O.3
Mezzina, M.4
-
47
-
-
0031920038
-
Gene therapy for genetic skin disease
-
Khavari PA. Gene therapy for genetic skin disease. J Invest Dermatol 1998; 110: 462-467.
-
(1998)
J Invest Dermatol
, vol.110
, pp. 462-467
-
-
Khavari, P.A.1
|