Literature DB >> 4847854

"Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred.

C E Jackson, L Weiss, J H Watson.   

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Year:  1974        PMID： 4847854

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  15 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.  Mental retardation, short stature and brittle hair (BIDS syndrome; hair brain syndrome).

Authors:  R K Hora; V S Murthy
Journal:  Indian J Pediatr       Date:  1996 Jan-Feb       Impact factor: 1.967

3.  The physicochemical properties of hair in the BIDS syndrome.

Authors:  H P Baden; C E Jackson; L Weiss; K Jimbow; L Lee; J Kubilus; R J Gold
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

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

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

5.  Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?

Authors:  D Soekarman; J P Fryns
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

6.  The trichothiodystrophy syndrome of Pollitt.

Authors:  S Chapman
Journal:  Pediatr Radiol       Date:  1988

7.  A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.

Authors:  A Wali; P John; A Gul; K Lee; M S Chishti; G Ali; M J Hassan; S M Leal; W Ahmad
Journal:  Clin Genet       Date:  2006-09       Impact factor: 4.438

8.  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

9.  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

10.  The Sabinas syndrome.

Authors:  R R Howell; A I Arbisser; D S Parsons; C I Scott; U Fraustadt; W R Collie; R N Marshall; O C Ibarra
Journal:  Am J Hum Genet       Date:  1981-11       Impact factor: 11.025
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