Literature DB >> 7625452

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

C A Williams1, H Angelman, J Clayton-Smith, D J Driscoll, J E Hendrickson, J H Knoll, R E Magenis, A Schinzel, J Wagstaff, E M Whidden.   

Abstract

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Year:  1995        PMID： 7625452     DOI： 10.1002/ajmg.1320560224

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  77 in total

Review 1.  Genomic imprinting: implications for human disease.

Authors:  J G Falls; D J Pulford; A A Wylie; R L Jirtle
Journal:  Am J Pathol       Date:  1999-03       Impact factor: 4.307

Review 2.  The ubiquitin-proteasome pathway and proteasome inhibitors.

Authors:  J Myung; K B Kim; C M Crews
Journal:  Med Res Rev       Date:  2001-07       Impact factor: 12.944

3.  Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress.

Authors:  S E Goldman; T J Bichell; K Surdyka; B A Malow
Journal:  J Intellect Disabil Res       Date:  2011-11-02

4.  Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.

Authors:  Francesco Cali; Alda Ragalmuto; Valeria Chiavetta; Giuseppe Calabrese; Marco Fichera; Mirella Vinci; Giuseppa Ruggeri; Pietro Schinocca; Maurizio Sturnio; Salvatore Romano; Valentino Romano; Maurizio Elia
Journal:  Exp Mol Med       Date:  2010-12-31       Impact factor: 8.718

5.  The elusive Angelman syndrome critical region.

Authors:  R J Trent; L J Sheffield; Z M Deng; W S Kim; N T Nassif; C Ryce; C G Woods; R C Michaelis; J Tarleton; A Smith
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

6.  A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.

Authors:  Lynne M Bird; Wen-Hann Tan; Carlos A Bacino; Sarika U Peters; Steven A Skinner; Irina Anselm; Rene Barbieri-Welge; Astrid Bauer-Carlin; Jennifer K Gentile; Daniel G Glaze; Lucia T Horowitz; K Naga Mohan; Mark P Nespeca; Trilochan Sahoo; Dean Sarco; Susan E Waisbren; Arthur L Beaudet
Journal:  Am J Med Genet A       Date:  2011-10-14       Impact factor: 2.802

Review 7.  Angelman syndrome (AS, MIM 105830).

Authors:  Griet Van Buggenhout; Jean-Pierre Fryns
Journal:  Eur J Hum Genet       Date:  2009-05-20       Impact factor: 4.246

8.  Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.

Authors:  Yann Fichou; Nadia Bahi-Buisson; Juliette Nectoux; Jamel Chelly; Delphine Héron; Laurence Cuisset; Thierry Bienvenu
Journal:  Eur J Hum Genet       Date:  2009-05-27       Impact factor: 4.246

Review 9.  Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

Authors:  Renzo Guerrini; Romeo Carrozzo; Roberta Rinaldi; Paolo Bonanni
Journal:  Paediatr Drugs       Date:  2003       Impact factor: 3.022

10.  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
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