Literature DB >> 16865103

Rett syndrome: new clinical and molecular insights.

Sarah L Williamson1, John Christodoulou.   

Abstract

In this review, we give a clinical overview of Rett syndrome (RTT), and provide a framework for clinical and molecular approaches to the diagnosis of this severe neurodevelopmental disorder. We also discuss issues that need to be considered in the management of RTT patients, and raise some of the challenges associated with genetic counselling.

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Year:  2006        PMID: 16865103     DOI: 10.1038/sj.ejhg.5201580

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  27 in total

1.  Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.

Authors:  Lyndon G Rosser; Shane McKee; David S Millar; Hayley Archer; James Hughes; Rachel Butler; Nadia Chuzhanova; David N Cooper; Lazarus P Lazarou
Journal:  Genomic Med       Date:  2008-09-20

2.  Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome.

Authors:  Nicky S J Halbach; Eric E J Smeets; Jörgen Bierau; Irene M L W Keularts; Guy Plasqui; Peter O O Julu; Ingegerd Witt Engerström; Jaap A Bakker; Leopold M G Curfs
Journal:  JIMD Rep       Date:  2011-09-28

3.  Functional outcomes in Rett syndrome.

Authors:  Frank S Pidcock; Cynthia Salorio; Genila Bibat; Jennifer Swain; Jocelyn Scheller; Wendy Shore; SakkuBai Naidu
Journal:  Brain Dev       Date:  2015-07-11       Impact factor: 1.961

4.  14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Authors:  Lila Allou; Laetitia Lambert; Daniel Amsallem; Eric Bieth; Patrick Edery; Anne Destrée; François Rivier; David Amor; Elizabeth Thompson; Julian Nicholl; Michael Harbord; Christophe Nemos; Aline Saunier; Aissa Moustaïne; Adeline Vigouroux; Philippe Jonveaux; Christophe Philippe
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

Review 5.  The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment.

Authors:  Allan Acab; Alysson Renato Muotri
Journal:  Neurotherapeutics       Date:  2015-07       Impact factor: 7.620

Review 6.  Emerging pharmacotherapies for neurodevelopmental disorders.

Authors:  Daniel Z Wetmore; Craig C Garner
Journal:  J Dev Behav Pediatr       Date:  2010-09       Impact factor: 2.225

7.  Common variants on Xq28 conferring risk of schizophrenia in Han Chinese.

Authors:  Emily H M Wong; Hon-Cheong So; Miaoxin Li; Quang Wang; Amy W Butler; Basil Paul; Hei-Man Wu; Tomy C K Hui; Siu-Chung Choi; Man-Ting So; Maria-Mercè Garcia-Barcelo; Grainne M McAlonan; Eric Y H Chen; Eric F C Cheung; Raymond C K Chan; Shaun M Purcell; Stacey S Cherny; Ronald R L Chen; Tao Li; Pak-Chung Sham
Journal:  Schizophr Bull       Date:  2013-09-16       Impact factor: 9.306

8.  Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.

Authors:  Joanne H Gibson; Barry Slobedman; Harikrishnan K N; Sarah L Williamson; Dimitri Minchenko; Assam El-Osta; Joshua L Stern; John Christodoulou
Journal:  BMC Neurosci       Date:  2010-04-26       Impact factor: 3.288

9.  Autism: maternally derived antibodies specific for fetal brain proteins.

Authors:  Daniel Braunschweig; Paul Ashwood; Paula Krakowiak; Irva Hertz-Picciotto; Robin Hansen; Lisa A Croen; Isaac N Pessah; Judy Van de Water
Journal:  Neurotoxicology       Date:  2007-11-06       Impact factor: 4.294

10.  Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.

Authors:  Dhanjit Kumar Das; Vrajesh Udani; Daksha Sanghavi; Rashmi Adhia; Anurupa Maitra
Journal:  J Clin Lab Anal       Date:  2013-02-11       Impact factor: 2.352

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