Literature DB >> 14246158

XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME.

W B REED, S B MARY, W R NICKEL.   

Abstract

Keywords:  CHILD; DWARFISM; GENETICS, HUMAN; HYPOGONADISM; INFANT; MENTAL RETARDATION; MICROCEPHALY; NEUROLOGIC MANIFESTATIONS; XERODERMA PIGMENTOSUM

Mesh：

Year:  1965        PMID： 14246158     DOI： 10.1001/archderm.1965.01600090032005

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN： 0003-987X


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  8 in total

1.  Xerodermic idiocy in identical twins.

Authors:  L Raju; B A Adam
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

2.  [On the neurological manifestations of xeroderma pigmentosum].

Authors:  E Hokkanen; M Iivanainen; O Waltimo
Journal:  Dtsch Z Nervenheilkd       Date:  1969

Review 3.  Dna repair: pathways and defects.

Authors:  C R Bartram
Journal:  Eur J Pediatr       Date:  1980-12       Impact factor: 3.183

Review 4.  The case for 8,5'-cyclopurine-2'-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum.

Authors:  P J Brooks
Journal:  Neuroscience       Date:  2006-12-19       Impact factor: 3.590

5.  Clinical and biological studies of 26 cases of xeroderma pigmentosum in northeast district of Japan.

Authors:  T Kato; H Akiba; M Seiji; H Tohda; A Oikawa
Journal:  Arch Dermatol Res       Date:  1985       Impact factor: 3.017

6.  Xeroderma pigmentosum: a human disease in which an initial stage of DNA repair is defective.

Authors:  J E Cleaver
Journal:  Proc Natl Acad Sci U S A       Date:  1969-06       Impact factor: 11.205

7.  Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.

Authors:  K Welshimer; M Swift
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

8.  The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).

Authors:  Jin-Ping Lai; Yen-Chun Liu; Meghna Alimchandani; Qingyan Liu; Phyu Phyu Aung; Kant Matsuda; Chyi-Chia R Lee; Maria Tsokos; Stephen Hewitt; Elisabeth J Rushing; Deborah Tamura; David L Levens; John J Digiovanna; Howard A Fine; Nicholas Patronas; Sikandar G Khan; David E Kleiner; J Carl Oberholtzer; Martha M Quezado; Kenneth H Kraemer
Journal:  Acta Neuropathol Commun       Date:  2013-05-08       Impact factor: 7.801
  8 in total

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