MECP2

Results: 110



#Item
51Communication disorders / Neurological disorders / Pervasive developmental disorders / Genes / MECP2 / Autism / Biology / Genetics / Health

Version dated[removed]MECP2 Duplication Syndrome MECP2 Duplication Syndrome Australian Paediatric Surveillance Unit Please contact Dr Helen Leonard[removed]removed]) if you have any que

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Source URL: www.apsu.org.au

Language: English - Date: 2014-05-19 01:42:43
52Neurological disorders / Pervasive developmental disorders / Autism / Syndromes / Rett syndrome / MECP2 / Epilepsy / Isabella I of Castile / Health / Medicine / Communication disorders

DIAGNOSING RETT SYNDROME – MY EXPERIENCE My name is Marisa Knott and I’m going to tell you about my experience as the mother of a young child recently diagnosed with Rett Syndrome. My daughter’s name is Isabella an

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Source URL: www.apsu.org.au

Language: English - Date: 2012-12-20 21:53:24
53Communication disorders / Neurological disorders / Pervasive developmental disorders / Genes / MECP2 / Autism / Biology / Genetics / Health

Version dated[removed]MECP2 Duplication Syndrome Study MECP2  Duplication  Syndrome  Study     Australian  Paediatric  Surveillance  Unit   Please  contact  Dr  Helen  Leonard

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Source URL: www.apsu.org.au

Language: English - Date: 2014-08-27 00:16:31
54Autism / Transcription factors / Genes / MECP2 / Syndromes / Rett syndrome / X-linked mental retardation / Mutation / Epigenetics / Genetics / Biology / Health

The Genetics of Rett Syndrome John Christodoulou Head, NSW Rett Syndrome Research Unit Western Sydney Genetics Program, Children’s Hospital at Westmead Discipline of Paediatrics & Child Health, University of Sydney

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Source URL: www.apsu.org.au

Language: English - Date: 2012-12-20 21:53:57
55Syndromes / DNA / Rett syndrome / MECP2 / Medical genetics / Mitochondrial DNA / Medicine / Health / Genetics

Publications for John Christodoulou[removed]Lim, S., Smith, K., Stroud, D., Compton, A., Tucker, E., Dasvarma, A., Gandolfo, L., Marum, J., McKenzie, M., Peters, H., Procopis, P., Wilcken, B., Christodoulou, J., et al (201

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Source URL: sydney.edu.au

Language: English
56Pervasive developmental disorders / Communication disorders / Neurological disorders / Syndromes / Autism / Rett syndrome / MECP2 / Genetic disorder / Medical genetics / Medicine / Health / Biology

Australian Paediatric Surveillance Unit

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Source URL: www.apsu.org.au

Language: English - Date: 2012-12-19 00:55:11
57Psychiatry / Medicine / Neurological disorders / Communication disorders / Syndromes / Rett syndrome / MECP2 / Autism spectrum / CDKL5 / Health / Autism / Pervasive developmental disorders

In 1999, it was discovered that Rett syndrome is commonly associated with a mutation in the MECP2 gene. The clinical diagnosis has often been uncertain in early childhood as the symptoms may be confused with those occurr

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Source URL: www.interrett.org.au

Language: English - Date: 2011-09-30 03:37:02
58Gene delivery / Epigenetics / Emerging technologies / Applied genetics / MECP2 / Rett syndrome / DNA methylation / DNA methyltransferase / Viral vector / Biology / Genetics / Molecular biology

letters In vivo interrogation of gene function in the mammalian brain using CRISPR-Cas9 © 2014 Nature America, Inc. All rights reserved.

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Source URL: web.mit.edu

Language: English - Date: 2014-12-15 09:01:08
59Protein domains / Protein structure / Genes / MECP2 / Rett syndrome / Root-mean-square deviation / X-linked mental retardation / DNA / Methylation / Biology / Chemistry / Genetics

Structural, Dynamical and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2 Tugba G Kucukkal*, Emil Alexov Computational Biophysics and Bioinformatics, Department of Physics, Clemson University, Clemson,

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Source URL: downloads.hindawi.com

Language: English - Date: 2015-03-11 18:15:01
60Psychiatry / Communication disorders / Neurological disorders / Pervasive developmental disorders / Syndromes / Rett syndrome / MECP2 / CDKL5 / Medical genetics / Health / Medicine / Autism

How to participate Families or clinicians who would like to participate can register their interest on our website. We also encourage clinicians and researchers who have a research question they would like to address to

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Source URL: www.interrett.org.au

Language: English - Date: 2012-07-10 00:02:02
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