Literature DB >> 460235

[Ichthyosis congenita, cataract, mental retardation, ataxia, osteosclerosis and immunologic deficiency--a particular syndrome?].

D Leupold.   

Abstract

Entities:  

Mesh：

Year:  1979        PMID： 460235

Source DB:  PubMed          Journal:  Monatsschr Kinderheilkd


× No keyword cloud information.
  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 trichothiodystrophy syndrome of Pollitt.

Authors:  S Chapman
Journal:  Pediatr Radiol       Date:  1988

4.  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

5.  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

6.  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.  Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice.

Authors:  Karin E M Diderich; Claudia Nicolaije; Matthias Priemel; Jan H Waarsing; Judd S Day; Renata M C Brandt; Arndt F Schilling; Sander M Botter; Harrie Weinans; Gijsbertus T J van der Horst; Jan H J Hoeijmakers; Johannes P T M van Leeuwen
Journal:  Age (Dordr)       Date:  2011-08-04
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.