1 |
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.
6
57
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Colella S...Stefanini M
|
10767341 |
2000 |
2 |
Peripheral neuropathy in xeroderma pigmentosum.
57
61
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Kanda T...Tsukagoshi H
|
2168777 |
1990 |
3 |
XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME.
61
57
|
REED WB...NICKEL WR
|
14246158 |
1965 |
4 |
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
6
|
Mallery DL...Lehmann AR
|
9443879 |
1998 |
5 |
Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype.
57
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Itoh T...Yamaizumi M
|
8566949 |
1996 |
6 |
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
57
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Greenhaw GA...Horton WA
|
1372469 |
1992 |
7 |
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases.
57
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Kraemer KH...Scotto J
|
3545087 |
1987 |
8 |
Xeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study.
57
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Roytta M...Anttinen A
|
3705928 |
1986 |
9 |
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.
57
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Robbins JH...Coon HG
|
4811796 |
1974 |
10 |
Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization.
57
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De Weerd-Kastelein EA...Bootsma D
|
4505415 |
1972 |
11 |
Xeroderma pigmentosum. Clinical and laboratory investigation of its basic defect.
57
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Reed WB...Melnyk J
|
5818379 |
1969 |
12 |
[Xeroderma pigmentosum with disorders of the central nervous system; a histopathological study].
57
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YANO K
|
14813341 |
1950 |
13 |
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.
61
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Uribe-Bojanini E...Cock-Rada AM
|
28255305 |
2017 |
14 |
Consanguinity and rare neurological disease. A five year experience from the Korle Bu Teaching Hospital, Accra, Ghana.
61
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Badoe EV
|
29430532 |
2016 |
15 |
De Sanctis-Cacchione syndrome: A case report and literature review.
61
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Rahbar Z...Naraghi M
|
28491977 |
2015 |
16 |
Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia.
61
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Fekete R
|
24803908 |
2014 |
17 |
De Sanctis-Cacchione syndrome.
61
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Mittal H...Godbole T
|
24177634 |
2013 |
18 |
De Sanctis-Cacchione syndrome in a female infant--case report.
61
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Caldas AL...Rodrigues MM
|
24474111 |
2013 |
19 |
[De Sanctis-Cacchione syndrome].
61
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Roson E...Cruces M
|
16476302 |
2005 |
20 |
De sanctis cacchione syndrome.
61
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Riyaz N...Riyaz A
|
20921639 |
1999 |
21 |
[An unusual course of hereditary photodermatosis: De-Sanctis-Caccione syndrome?].
61
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Hort A...Kurlemann G
|
8459809 |
1993 |
22 |
De Sanctis Cacchione syndrome.
61
|
Joseph VJ...Yeshwanth M
|
8406720 |
1993 |
23 |
Three nonsense mutations responsible for group A xeroderma pigmentosum.
61
|
Satokata I...Okada Y
|
1372102 |
1992 |
24 |
De Sanctis-Caccione syndrome: xeroderma pigmentosum with oligophrenia, short stature and neurologic disorders.
61
|
Niederauer HH...Jung EG
|
1612905 |
1992 |
25 |
[Electrophysiological studies in siblings of De Sanctis-Cacchione syndrome].
61
|
Konishi T...Takayanagi T
|
2612104 |
1989 |
26 |
[De Sanctis-Cacchione syndrome. Apropos of 2 cases].
61
|
Sanchez-Pedreno Guillen P...Camacho Martinez F
|
3537579 |
1986 |
27 |
Clinical and biological studies of 26 cases of xeroderma pigmentosum in northeast district of Japan.
61
|
Kato T...Oikawa A
|
3970583 |
1985 |
28 |
Differential features of sister-chromatid exchange responses to ultraviolet radiation and caffeine in xeroderma pigmentosum lymphoblastoid cell lines.
61
|
Tohda H...Oikawa A
|
6865988 |
1983 |
29 |
De-Sanctis cacchione syndrome.
61
|
Mishra PC...Singh R
|
7182366 |
1982 |
30 |
The peripheral neuropathy in De Sanctis-Cacchione syndrome. Histological, ultrastructural, and morphometric studies.
61
|
Fukuhara N...Origuchi Y
|
6280438 |
1982 |
31 |
[De Sanctis-Cacchione syndrome: a report of a case and a review of the literature (author's transl)].
61
|
Muramoto O...Ando K
|
7333057 |
1981 |
32 |
[De Sanctis-Cacchione syndrome--a case report].
61
|
Miyazaki M...Yatani R
|
7265511 |
1981 |
33 |
Heat-labile glucose-6-phosphate dehydrogenase in cultured fibroblasts from patients with De Sanctis-Cacchione Syndrome.
61
|
Okada N...Kitano Y
|
7305444 |
1981 |
34 |
De Sanctis-Cacchione syndrome.
61
|
Harrison PV...Shuster S
|
453864 |
1979 |
35 |
Cranial computed tomography findings in xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome).
61
|
Handa J...Akiguchi I
|
701525 |
1978 |
36 |
[De Sanctis-Cacchione syndrome (xeroderma pigmentosum with neurologic manifestations) (author's transl)].
61
|
Idiaquez J...Alvarez G
|
694280 |
1978 |
37 |
Replication of chromosomal DNA in cultured abnormal human cells.
61
|
Yurov YB
|
149757 |
1978 |
38 |
[De Sanctis-Cacchione syndrome].
61
|
Takeshita K
|
691376 |
1978 |
39 |
Xeroderma pigmentosum: heterogeneous syndrome and model for UV carcinogenesis.
61
|
Jung EG
|
719183 |
1978 |
40 |
[De Sanctis-Cacchione syndrome].
61
|
Seiji M...Kato T
|
612790 |
1977 |
41 |
Enzyme defects in xeroderma pigmentosum.
61
|
Akiba H...Seiji M
|
15633972 |
1976 |
42 |
Incorporation of (3H)thymidine stimulated by ultraviolet radiation into human fibroblast cultures.
61
|
Stefanini M...Nuzzo F
|
1250250 |
1976 |
43 |
Defective DNA repair replication in xeroderma pigmentosum fibroblasts and DNA repair of somatic cell hybrids after UV irradiation.
61
|
Akiba H...Seiji M
|
1188925 |
1975 |
44 |
Xerodermic idiocy in identical twins.
61
|
Raju L...Adam BA
|
4443986 |
1974 |
45 |
The genetic defect in the de Sanctis-Cacchione syndrome.
61
|
Der Kaloustian VM...Bootsma D
|
4436596 |
1974 |
46 |
Xerodermic idiocy or De Sanctis Cacchione syndrome. A description of an 8-year-old patient with xeroderma pigmentosum, mental retardation, and dwarfism.
61
|
Friedman A...Haim S
|
4683062 |
1973 |
47 |
DNA chain elongation and joining in normal human and xeroderma pigmentosum cells after ultraviolet irradiation.
61
|
Buhl SN...Regan JD
|
5056962 |
1972 |
48 |
[Case of xerodermic idiocy (Sanctis-Kakione syndrome)].
61
|
Sazonova NS...Suvorova KN
|
4659418 |
1972 |
49 |
[De Sanctis-Cacchione syndrome].
61
|
Suvorova KN...Sazonova NS
|
5507869 |
1970 |
50 |
[De Sanctis-Cacchione syndrome (xeroderma pigmentosum with neurological complications)].
61
|
Yamamoto M...Fujino Z
|
5456594 |
1970 |