Literature DB >> 7826116

Diagnosis in Prader-Willi syndrome.

C E Chu1, A Cooke, J B Stephenson, J L Tolmie, B Clarke, W L Parry-Jones, J M Connor, M D Donaldson.   

Abstract

Thirty one patients with the putative diagnosis of Prader-Willi syndrome were reassessed clinically and by DNA analysis. Eleven patients were judged not to have Prader-Willi syndrome and 20 to have the condition. This was confirmed by DNA analysis in all but one case. The diagnosis of Prader-Willi syndrome, especially in early infancy, should be made with caution unless confirmed by molecular genetic studies.

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Year:  1994        PMID： 7826116      PMCID： PMC1030061          DOI： 10.1136/adc.71.5.441

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

1.  Adults with Prader-Willi syndrome: a survey of 232 cases.

Authors:  L R Greenswag
Journal:  Dev Med Child Neurol       Date:  1987-04       Impact factor: 5.449

2.  Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Authors:  W P Robinson; A Bottani; Y G Xie; J Balakrishman; F Binkert; M Mächler; A Prader; A Schinzel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

Review 3.  The Prader-Willi syndrome.

Authors:  M D Donaldson; C E Chu; A Cooke; A Wilson; S A Greene; J B Stephenson
Journal:  Arch Dis Child       Date:  1994-01       Impact factor: 3.791

4.  Strengths and weaknesses in the cognitive profile of youngsters with Prader-Willi syndrome.

Authors:  L M Curfs; A M Wiegers; J R Sommers; M Borghgraef; J P Fryns
Journal:  Clin Genet       Date:  1991-12       Impact factor: 4.438

5.  Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

Authors:  B Dittrich; W P Robinson; H Knoblauch; K Buiting; K Schmidt; G Gillessen-Kaesbach; B Horsthemke
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

6.  Prader-Willi syndrome: consensus diagnostic criteria.

Authors:  V A Holm; S B Cassidy; M G Butler; J M Hanchett; L R Greenswag; B Y Whitman; F Greenberg
Journal:  Pediatrics       Date:  1993-02       Impact factor: 7.124
  6 in total
  8 in total

1.  Diagnostic testing for Prader-Willi and Angelman syndromes: response.

Authors:  A Smith; T Buchholz; L Robson
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

Review 2.  Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Authors:  A Smith; C Wiles; E Haan; J McGill; G Wallace; J Dixon; R Selby; A Colley; R Marks; R J Trent
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

3.  Prader-Willi Syndrome: Clinical and Genetic Findings.

Authors:  Merlin G Butler; Travis Thompson
Journal:  Endocrinologist       Date:  2000-07

4.  Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.

Authors:  A Smith; M Prasad; Z M Deng; L Robson; T Woodage; R J Trent
Journal:  Arch Dis Child       Date:  1995-05       Impact factor: 3.791

5.  Hypogonadism and pubertal development in Prader-Willi syndrome.

Authors:  A Crinò; R Schiaffini; P Ciampalini; S Spera; L Beccaria; F Benzi; L Bosio; A Corrias; L Gargantini; A Salvatoni; G Tonini; G Trifirò; C Livieri
Journal:  Eur J Pediatr       Date:  2003-02-27       Impact factor: 3.183

6.  Prader-Willi syndrome, excessive daytime sleepiness, and narcoleptic symptoms: a case report.

Authors:  Sara V Weselake; Jessica L Foulds; Robert Couch; Manisha B Witmans; Daniela Rubin; Andrea M Haqq
Journal:  J Med Case Rep       Date:  2014-04-17

Review 7.  Sleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialist.

Authors:  Natan Gadoth; Arie Oksenberg
Journal:  Front Neurol       Date:  2014-07-17       Impact factor: 4.003

8.  Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life

Authors:  Filiz Mine Çizmecioğlu; Jeremy Huw Jones; Wendy Forsyth Paterson; Sakina Kherra; Mariam Kourime; Ruth McGowan; M. Guftar Shaikh; Malcolm Donaldson
Journal:  J Clin Res Pediatr Endocrinol       Date:  2018-03-19
  8 in total

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