Literature DB >> 30996592

A boy with developmental regression.

Kathryn MacLellan1, Kellie Davies2, Jennifer Fisher1, Jean-Francois Lemay1.   

Abstract

Entities:  

Year:  2018        PMID： 30996592      PMCID： PMC6462138          DOI： 10.1093/pch/pxy067

Source DB:  PubMed          Journal:  Paediatr Child Health        ISSN： 1205-7088            Impact factor:   2.253


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  6 in total

1.  An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001.

Authors:  Bengt Hagberg; Folker Hanefeld; Alan Percy; Ola Skjeldal
Journal:  Eur J Paediatr Neurol       Date:  2002       Impact factor: 3.140

2.  Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.

Authors:  J Clayton-Smith; P Watson; S Ramsden; G C Black
Journal:  Lancet       Date:  2000-09-02       Impact factor: 79.321

Review 3.  Brief report: systematic review of Rett syndrome in males.

Authors:  Brian Reichow; Annie George-Puskar; Tara Lutz; Isaac C Smith; Fred R Volkmar
Journal:  J Autism Dev Disord       Date:  2015-10

4.  A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

Authors:  Sabine M Klauck; Susan Lindsay; Kim S Beyer; Miranda Splitt; John Burn; Annemarie Poustka
Journal:  Am J Hum Genet       Date:  2002-02-15       Impact factor: 11.025

Review 5.  Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Authors:  B Schüle; D D Armstrong; H Vogel; A Oviedo; U Francke
Journal:  Clin Genet       Date:  2008-05-08       Impact factor: 4.438

6.  Rett syndrome: revised diagnostic criteria and nomenclature.

Authors:  Jeffrey L Neul; Walter E Kaufmann; Daniel G Glaze; John Christodoulou; Angus J Clarke; Nadia Bahi-Buisson; Helen Leonard; Mark E S Bailey; N Carolyn Schanen; Michele Zappella; Alessandra Renieri; Peter Huppke; Alan K Percy
Journal:  Ann Neurol       Date:  2010-12       Impact factor: 10.422
  6 in total

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