-
1
-
-
79951785364
-
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
-
Bradford PT, Goldstein AM, Tamura D etal. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet 2011; 48: 168-176.
-
(2011)
J Med Genet
, vol.48
, pp. 168-176
-
-
Bradford, P.T.1
Goldstein, A.M.2
Tamura, D.3
-
2
-
-
84857041145
-
Shining a light on xeroderma pigmentosum
-
DiGiovanna JJ, Kraemer KH. Shining a light on xeroderma pigmentosum. J Invest Dermatol 2012; 132: 785-796.
-
(2012)
J Invest Dermatol
, vol.132
, pp. 785-796
-
-
DiGiovanna, J.J.1
Kraemer, K.H.2
-
3
-
-
53349154784
-
Hereditary diseases of genome instability and DNA repair
-
In: Wolff K, Katz SI, Goldsmith L, Gilchrist B, Leffell D, Paller A, eds. New York: McGraw-Hill
-
Ruenger TM, DiGiovanna JJ, Kraemer KH. Hereditary diseases of genome instability and DNA repair. In: Wolff K, Katz SI, Goldsmith L, Gilchrist B, Leffell D, Paller A, eds. Fitzpatrick's dermatology in general medicine. New York: McGraw-Hill, 2012, 1654-1671.
-
(2012)
Fitzpatrick's dermatology in general medicine
, pp. 1654-1671
-
-
Ruenger, T.M.1
DiGiovanna, J.J.2
Kraemer, K.H.3
-
4
-
-
0021752570
-
Report of three sisters with XP-E, a rare xeroderma pigmentosum complementation group
-
Fischer E, Schnyder UW, Jung EG. Report of three sisters with XP-E, a rare xeroderma pigmentosum complementation group. Photodermatol 1984; 1: 232-236.
-
(1984)
Photodermatol
, vol.1
, pp. 232-236
-
-
Fischer, E.1
Schnyder, U.W.2
Jung, E.G.3
-
5
-
-
47349099501
-
Xeroderma pigmentosum-variant patients from America, Europe, and Asia
-
Inui H, Oh KS, Nadem C etal. Xeroderma pigmentosum-variant patients from America, Europe, and Asia. J Invest Dermatol 2008; 128: 2055-2068.
-
(2008)
J Invest Dermatol
, vol.128
, pp. 2055-2068
-
-
Inui, H.1
Oh, K.S.2
Nadem, C.3
-
6
-
-
0023130695
-
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
-
Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987; 123: 241-250.
-
(1987)
Arch Dermatol
, vol.123
, pp. 241-250
-
-
Kraemer, K.H.1
Lee, M.M.2
Scotto, J.3
-
7
-
-
57649243698
-
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2)
-
Emmert S, Ueda T, Zumsteg U etal. Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). Exp Dermatol 2009; 18: 64-68.
-
(2009)
Exp Dermatol
, vol.18
, pp. 64-68
-
-
Emmert, S.1
Ueda, T.2
Zumsteg, U.3
-
8
-
-
66449088745
-
Xeroderma pigmentosum
-
In: Ruggieri M, Pascual-Castroviejo I, Di Rocco C, eds. New York: Springer-Verlag
-
Stefanini M, Kraemer KH. Xeroderma pigmentosum. In: Ruggieri M, Pascual-Castroviejo I, Di Rocco C, eds. Neurocutaneous disorders: phakomatoses and hamartoneoplastic syndromes. New York: Springer-Verlag, 2008, 771-792.
-
(2008)
Neurocutaneous disorders: phakomatoses and hamartoneoplastic syndromes
, pp. 771-792
-
-
Stefanini, M.1
Kraemer, K.H.2
-
10
-
-
41149125982
-
The involvement of DNA-damage and -repair defects in neurological dysfunction
-
Kulkarni A, Wilson DM, III. The involvement of DNA-damage and -repair defects in neurological dysfunction. Am J Hum Genet 2008; 82: 539-566.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 539-566
-
-
Kulkarni, A.1
Wilson, D.M.2
-
12
-
-
53349119985
-
Skin cancers, blindness, and anterior tongue mass in African brothers
-
Mahindra P, DiGiovanna JJ, Tamura D etal. Skin cancers, blindness, and anterior tongue mass in African brothers. J Am Acad Dermatol 2008; 59: 881-886.
-
(2008)
J Am Acad Dermatol
, vol.59
, pp. 881-886
-
-
Mahindra, P.1
DiGiovanna, J.J.2
Tamura, D.3
-
13
-
-
79959252872
-
Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature
-
Ramkumar HL, Brooks BP, Cao X etal. Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature. Surv Ophthalmol 2011; 56: 348-361.
-
(2011)
Surv Ophthalmol
, vol.56
, pp. 348-361
-
-
Ramkumar, H.L.1
Brooks, B.P.2
Cao, X.3
-
14
-
-
0037253076
-
Ocular manifestations in the inherited DNA repair disorders
-
Dollfus H, Porto F, Caussade P etal. Ocular manifestations in the inherited DNA repair disorders. Surv Ophthalmol 2003; 48: 107-122.
-
(2003)
Surv Ophthalmol
, vol.48
, pp. 107-122
-
-
Dollfus, H.1
Porto, F.2
Caussade, P.3
-
15
-
-
34247169028
-
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship
-
Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience 2007; 145: 1388-1396.
-
(2007)
Neuroscience
, vol.145
, pp. 1388-1396
-
-
Kraemer, K.H.1
Patronas, N.J.2
Schiffmann, R.3
Brooks, B.P.4
Tamura, D.5
DiGiovanna, J.J.6
-
16
-
-
84879793316
-
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage
-
Brooks BP, Thompson AH, Bishop RJ etal. Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage. Ophthalmology 2013; 120: 1324-1336.
-
(2013)
Ophthalmology
, vol.120
, pp. 1324-1336
-
-
Brooks, B.P.1
Thompson, A.H.2
Bishop, R.J.3
-
17
-
-
58549092574
-
DNA repair deficiency and neurological disease
-
McKinnon PJ. DNA repair deficiency and neurological disease. Nat Rev Neurosci 2009; 10: 100-112.
-
(2009)
Nat Rev Neurosci
, vol.10
, pp. 100-112
-
-
McKinnon, P.J.1
-
18
-
-
0025820574
-
Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form
-
Robbins JH, Brumback RA, Mendiones M etal. Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form. Brain 1991; 114 (Pt 3): 1335-1361.
-
(1991)
Brain
, vol.114
, Issue.PART 3
, pp. 1335-1361
-
-
Robbins, J.H.1
Brumback, R.A.2
Mendiones, M.3
-
19
-
-
84873390380
-
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration
-
Totonchy MB, Tamura D, Pantell MS etal. Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration. Brain 2013; 136: 194-208.
-
(2013)
Brain
, vol.136
, pp. 194-208
-
-
Totonchy, M.B.1
Tamura, D.2
Pantell, M.S.3
-
20
-
-
49449096533
-
Neurological symptoms and natural course of xeroderma pigmentosum
-
Anttinen A, Koulu L, Nikoskelainen E etal. Neurological symptoms and natural course of xeroderma pigmentosum. Brain 2008; 131: 1979-1989.
-
(2008)
Brain
, vol.131
, pp. 1979-1989
-
-
Anttinen, A.1
Koulu, L.2
Nikoskelainen, E.3
-
21
-
-
85005847209
-
The influence of DNA repair on neurologic degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)
-
Lai J-P, Liu Y-C, Alimchandani M etal. The influence of DNA repair on neurologic degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D). Acta Neuropathol Commun 2013; 1: 4.
-
(2013)
Acta Neuropathol Commun
, vol.1
, pp. 4
-
-
Lai, J.-P.1
Liu, Y.-C.2
Alimchandani, M.3
-
22
-
-
79960352669
-
Xeroderma pigmentosum family support group: helping families and promoting clinical initiatives
-
Milota M, Jones DL, Cleaver J, Jamall IS. Xeroderma pigmentosum family support group: helping families and promoting clinical initiatives. DNA Repair (Amst) 2011; 10: 792-797.
-
(2011)
DNA Repair (Amst)
, vol.10
, pp. 792-797
-
-
Milota, M.1
Jones, D.L.2
Cleaver, J.3
Jamall, I.S.4
-
23
-
-
39749110641
-
Xeroderma pigmentosum
-
Webb S. Xeroderma pigmentosum. BMJ 2008; 336: 444-446.
-
(2008)
BMJ
, vol.336
, pp. 444-446
-
-
Webb, S.1
-
24
-
-
84857065244
-
Xeroderma pigmentosum
-
In: Lebwohl M, Heymann WR, Berth-Jones J, Coulson I, eds. London: Elsevier
-
Tamura D, DiGiovanna JJ, Kraemer KH. Xeroderma pigmentosum. In: Lebwohl M, Heymann WR, Berth-Jones J, Coulson I, eds. Treatment of skin disease. London: Elsevier, 2010, 789-792.
-
(2010)
Treatment of skin disease
, pp. 789-792
-
-
Tamura, D.1
DiGiovanna, J.J.2
Kraemer, K.H.3
-
25
-
-
0031473321
-
Normal vitamin D levels can be maintained despite rigorous photoprotection: six years' experience with xeroderma pigmentosum
-
Sollitto RB, Kraemer KH, DiGiovanna JJ. Normal vitamin D levels can be maintained despite rigorous photoprotection: six years' experience with xeroderma pigmentosum. J Am Acad Dermatol 1997; 37: 942-947.
-
(1997)
J Am Acad Dermatol
, vol.37
, pp. 942-947
-
-
Sollitto, R.B.1
Kraemer, K.H.2
DiGiovanna, J.J.3
-
26
-
-
68449099291
-
High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis
-
Ben RM, Messaoud O, Talmoudi F etal. High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis. J Hum Genet 2009; 54: 426-429.
-
(2009)
J Hum Genet
, vol.54
, pp. 426-429
-
-
Ben, R.M.1
Messaoud, O.2
Talmoudi, F.3
-
27
-
-
42249101874
-
Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
-
Kleijer WJ, Laugel V, Berneburg M etal. 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
|