Literature DB >> 6723102

The Williams syndrome: objective definition and diagnosis.

M Preus.   

Abstract

Fifty-two patients referred for suspicion of the Williams syndrome have been evaluated and divided into those with and without the syndrome by numerical analysis. A diagnostic index using 50 characters separates patients into two groups with an expected accuracy of 99%. An index using 40 of the characteristics is expected to be applicable to young infants without a substantial decrease in accuracy.

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Year:  1984        PMID： 6723102     DOI： 10.1111/j.1399-0004.1984.tb02011.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  24 in total

1.  Patterns of dysmorphic features in schizophrenia.

Authors:  L E Scutt; E W Chow; R Weksberg; W G Honer; A S Bassett
Journal:  Am J Med Genet       Date:  2001-12-08

2.  Verbal peaks and visual valleys in theory of mind ability in Williams syndrome.

Authors:  Andreia Santos; Christine Deruelle
Journal:  J Autism Dev Disord       Date:  2008-11-28

Review 3.  Williams syndrome starts making sense.

Authors:  J Ashkenas
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

4.  A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.

Authors:  R Tupler; P Maraschio; A Gerardo; R Mainieri; G Lanzi; L Tiepolo
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

Review 5.  Williams syndrome.

Authors:  J Burn
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

6.  Williams-Beuren syndrome: historical aspects.

Authors:  Walter E Berdon; Patricia M Clarkson; Rita L Teele
Journal:  Pediatr Radiol       Date:  2010-12-01

7.  Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome.

Authors:  Ovsanna T Leyfer; Janet Woodruff-Borden; Bonita P Klein-Tasman; Johanna S Fricke; Carolyn B Mervis
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2006-09-05       Impact factor: 3.568

8.  Unpredictable postoperative global cerebral infarction in the patient of williams syndrome accompanying moyamoya disease.

Authors:  Yang-Won Sim; Mou-Seop Lee; Young-Gyu Kim; Dong-Ho Kim
Journal:  J Korean Neurosurg Soc       Date:  2011-09-30

9.  Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.

Authors:  A Mari; F Amati; R Mingarelli; A Giannotti; G Sebastio; V Colloridi; G Novelli; B Dallapiccola
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

10.  Referential communication skills of children with Williams syndrome: understanding when messages are not adequate.

Authors:  Angela E John; Melissa L Rowe; Carolyn B Mervis
Journal:  Am J Intellect Dev Disabil       Date:  2009-03
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