About
Site Map
Contact Us
Search
A service of the
U.S. National Library of Medicine®
Home
Conditions
Genes
Chromosomes
Handbook
Glossary
Resources
Genetic Conditions
>
Rett syndrome
>
References
These sources were used to develop the Genetics Home Reference
condition summary
on Rett syndrome.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet. 2008 Jul;83(1):89-93. Epub 2008 Jun 19.
PubMed citation
Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A. Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev. 2010 Jan;32(1):17-24. Epub 2009 Apr 10.
PubMed citation
Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 8;56(3):422-37. Review.
PubMed citation
Gene Review: MECP2-Related
Disorders
Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun;48(6):396-406. Epub 2011 Mar 25.
PubMed citation
Lin C, Franco B, Rosner MR. CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. Hum Mol Genet. 2005 Dec 15;14(24):3775-86. Epub 2005 Dec 5.
PubMed citation
Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet. 2010 Jan;47(1):49-53. Epub 2009 Jul 2.
PubMed citation
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010 Dec;68(6):944-50.
PubMed citation
Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr;10(2):118-28. Review.
PubMed citation
Percy AK, Lane JB. Rett syndrome: model of neurodevelopmental disorders. J Child Neurol. 2005 Sep;20(9):718-21. Review.
PubMed citation
Segawa M, Nomura Y. Rett syndrome. Curr Opin Neurol. 2005 Apr;18(2):97-104. Review.
PubMed citation
Weaving LS, Ellaway CJ, Gécz J, Christodoulou J. Rett syndrome: clinical review and genetic update. J Med Genet. 2005 Jan;42(1):1-7. Review.
PubMed citation
Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science. 2003 Oct 31;302(5646):826-30.
PubMed citation
Reviewed: October 2011
Published: May 21, 2012
Indicates a page outside Genetics Home Reference.