Literature DB >> 9246009

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

A Smith, T Buchholz, L Robson.   

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Year:  1997        PMID： 9246009      PMCID： PMC1715844          DOI： 10.1016/S0002-9297(07)64300-6

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  10 in total

1.  Diagnosis in Prader-Willi syndrome.

Authors:  C E Chu; A Cooke; J B Stephenson; J L Tolmie; B Clarke; W L Parry-Jones; J M Connor; M D Donaldson
Journal:  Arch Dis Child       Date:  1994-11       Impact factor: 3.791

2.  Diagnostic testing: a cost analysis for Prader-Willi and Angelman syndromes.

Authors:  K G Monaghan; D L Van Dyke; G Feldman; A Wiktor; L Weiss
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

3.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

4.  Diagnosing Prader-Willi syndrome.

Authors:  I D Young
Journal:  Lancet       Date:  1995-06-24       Impact factor: 79.321

5.  Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.

Authors:  T Kubota; J S Sutcliffe; S Aradhya; G Gillessen-Kaesbach; S L Christian; B Horsthemke; A L Beaudet; D H Ledbetter
Journal:  Am J Med Genet       Date:  1996-12-02

6.  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

7.  Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).

Authors:  M Erdel; S Schuffenhauer; B Buchholz; U Barth-Witte; S Köchl; B Utermann; H C Duba; G Utermann
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

8.  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

9.  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

10.  Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.

Authors:  C A Williams; H Angelman; J Clayton-Smith; D J Driscoll; J E Hendrickson; J H Knoll; R E Magenis; A Schinzel; J Wagstaff; E M Whidden
Journal:  Am J Med Genet       Date:  1995-03-27
  10 in total

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