Literature DB >> 7082576

Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome).

J L Jorizzo, D J Atherton, R G Crounse, R S Wells.   

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Year:  1982        PMID： 7082576     DOI： 10.1111/j.1365-2133.1982.tb11687.x

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


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  11 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.  Eruptive seborrhoeic warts with gastric adenocarcinoma.

Authors:  P R Coburn; J J Cream
Journal:  J R Soc Med       Date:  1984-03       Impact factor: 5.344

4.  Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.

Authors:  P A Battistella; A Peserico
Journal:  Childs Nerv Syst       Date:  1996-02       Impact factor: 1.475

5.  Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

Authors:  Kazuhiko Nakabayashi; Daniela Amann; Yan Ren; Ulpu Saarialho-Kere; Nili Avidan; Simone Gentles; Jeffrey R MacDonald; Erik G Puffenberger; Angela M Christiano; Amalia Martinez-Mir; Julio C Salas-Alanis; Renata Rizzo; Esther Vamos; Anja Raams; Clifford Les; Eric Seboun; Nicolaas G J Jaspers; Jacques S Beckmann; Charles E Jackson; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2005-01-11       Impact factor: 11.025

6.  A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.

Authors:  M Stefanini; W Vermeulen; G Weeda; S Giliani; T Nardo; M Mezzina; A Sarasin; J I Harper; C F Arlett; J H Hoeijmakers
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

7.  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

8.  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

9.  Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.

Authors:  M D King; C L Gummer; J B Stephenson
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318

10.  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
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