Literature DB >> 7573182

Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county.

M B Petersen, K Brøndum-Nielsen, L K Hansen, K Wulff.   

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Year:  1995        PMID： 7573182     DOI： 10.1002/ajmg.1320600317

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


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  27 in total

1.  A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.

Authors:  Jennifer K Gentile; Wen-Hann Tan; Lucia T Horowitz; Carlos A Bacino; Steven A Skinner; Rene Barbieri-Welge; Astrid Bauer-Carlin; Arthur L Beaudet; Terry Jo Bichell; Hye-Seung Lee; Trilochan Sahoo; Susan E Waisbren; Lynne M Bird; Sarika U Peters
Journal:  J Dev Behav Pediatr       Date:  2010-09       Impact factor: 2.225

2.  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

3.  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

4.  Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome.

Authors:  Marcio Leyser; Patricia Sola Penna; Alexandre Cardozo de Almeida; Marcio Moacyr Vasconcelos; Osvaldo J M Nascimento
Journal:  Neurol Sci       Date:  2014-01-07       Impact factor: 3.307

5.  Social-emotional processing in nonverbal individuals with Angelman syndrome: evidence from brain responses to known and novel names.

Authors:  A P Key; D Jones
Journal:  J Intellect Disabil Res       Date:  2018-11-23

6.  Angelman syndrome: Mutations influence features in early childhood.

Authors:  Wen-Hann Tan; Carlos A Bacino; Steven A Skinner; Irina Anselm; Rene Barbieri-Welge; Astrid Bauer-Carlin; Arthur L Beaudet; Terry Jo Bichell; Jennifer K Gentile; Daniel G Glaze; Lucia T Horowitz; Sanjeev V Kothare; Hye-Seung Lee; Mark P Nespeca; Sarika U Peters; Trilochan Sahoo; Dean Sarco; Susan E Waisbren; Lynne M Bird
Journal:  Am J Med Genet A       Date:  2011-01       Impact factor: 2.802

7.  Brief Report: A Longitudinal Study of Excessive Smiling and Laughing in Children with Angelman Syndrome.

Authors:  Dawn Adams; Kate Horsler; Rebecca Mount; Chris Oliver
Journal:  J Autism Dev Disord       Date:  2015-08

8.  Validating and Applying the CSBS-ITC in Neurogenetic Syndromes.

Authors:  Lisa R Hamrick; Bridgette L Tonnsen
Journal:  Am J Intellect Dev Disabil       Date:  2019-05

9.  Diagnostic approach of angelman syndrome.

Authors:  Denis George Duca; Dana Craiu; Monica Boer; Sorina Mihaela Chirieac; Aurora Arghir; Andreea Tutulan-Cunita; Diana Barca; Catrinel Iliescu; Agripina Lungeanu; Sanda Magureanu; Magdalena Budisteanu
Journal:  Maedica (Buchar)       Date:  2013-09

10.  SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

Authors:  Gregor D Gilfillan; Kaja K Selmer; Ingrid Roxrud; Raffaella Smith; Mårten Kyllerman; Kristin Eiklid; Mette Kroken; Morten Mattingsdal; Thore Egeland; Harald Stenmark; Hans Sjøholm; Andres Server; Lena Samuelsson; Arnold Christianson; Patrick Tarpey; Annabel Whibley; Michael R Stratton; P Andrew Futreal; Jon Teague; Sarah Edkins; Jozef Gecz; Gillian Turner; F Lucy Raymond; Charles Schwartz; Roger E Stevenson; Dag E Undlien; Petter Strømme
Journal:  Am J Hum Genet       Date:  2008-03-13       Impact factor: 11.025
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