Literature DB >> 7684188

Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals.

J Clayton-Smith1.   

Abstract

Clinical information has been obtained on 82 Angelman syndrome (AS) families in the UK. Each patient was examined by the author and a detailed clinical history taken. The findings of this study are presented.

Entities:  

Mesh：

Year:  1993        PMID： 7684188     DOI： 10.1002/ajmg.1320460105

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


  45 in total

1.  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

2.  "You have to sit and explain it all, and explain yourself." Mothers' experiences of support services for their offspring with a rare genetic intellectual disability syndrome.

Authors:  Gemma Maria Griffith; Richard P Hastings; Susie Nash; Michael Petalas; Chris Oliver; Patricia Howlin; Joanna Moss; Jane Petty; Penelope Tunnicliffe
Journal:  J Genet Couns       Date:  2011-01-04       Impact factor: 2.537

Review 3.  Specific genetic disorders and autism: clinical contribution towards their identification.

Authors:  David Cohen; Nadège Pichard; Sylvie Tordjman; Clarisse Baumann; Lydie Burglen; Elsa Excoffier; Gabriela Lazar; Philippe Mazet; Clément Pinquier; Alain Verloes; Delphine Héron
Journal:  J Autism Dev Disord       Date:  2005-02

Review 4.  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

5.  Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?

Authors:  L W Burke; J E Wiley; C C Glenn; D J Driscoll; K M Loud; A J Smith; T Kushnick
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

6.  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

7.  Sleep in Neurodevelopmental Disorders.

Authors:  Anna J Esbensen; Amy J Schwichtenberg
Journal:  Int Rev Res Dev Disabil       Date:  2016

Review 8.  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

9.  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

Review 10.  Epilepsy in patients with Angelman syndrome.

Authors:  Agata Fiumara; Annarita Pittalà; Mariadonatella Cocuzza; Giovanni Sorge
Journal:  Ital J Pediatr       Date:  2010-04-16       Impact factor: 2.638
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.