Literature DB >> 6824580

Trichothiodystrophy--BIDS, IBIDS and PIBIDS?

F Crovato, C Borrone, A Rebora.   

Abstract

Mesh：

Year:  1983        PMID： 6824580     DOI： 10.1111/j.1365-2133.1983.tb00068.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  7 in total

Review 1.  Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Authors:  S Faghri; D Tamura; K H Kraemer; J J Digiovanna
Journal:  J Med Genet       Date:  2008-06-25       Impact factor: 6.318

2.  Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome.

Authors:  A Rebora; F Crovato
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

3.  The Tay syndrome (congenital ichthyosis with trichothiodystrophy)

Authors:  F Crovato; C Borrone; A Rebora
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183

4.  Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.

Authors:  Xiaolong Zhou; Sikandar G Khan; Deborah Tamura; Nicholas J Patronas; Wadih M Zein; Brian P Brooks; Kenneth H Kraemer; John J DiGiovanna
Journal:  J Am Acad Dermatol       Date:  2010-08       Impact factor: 11.527

5.  The Tay syndrome (congenital ichthyosis with trichothiodystrophy).

Authors:  R Happle; H Traupe; H Gröbe; G Bonsmann
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183

6.  Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

Authors:  M Stefanini; P Lagomarsini; C F Arlett; S Marinoni; C Borrone; F Crovato; G Trevisan; G Cordone; F Nuzzo
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

7.  Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.

Authors:  A Fois; P Balestri; S Calvieri; M Zampetti; S Giustini; M Stefanini; P Lagomarsini
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183
  7 in total

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