תסמונת רט
הערות שוליים

↑  Science. 2007 Feb 23;315(5815):1143-7. Epub 2007 Feb 8. Reversal of neurological defects in a mouse model of Rett syndrome. Guy J, Gan J, Selfridge J, Cobb S, Bird A.
↑  תהליך אובדן פונקציונליות ועיכוב בהתפתחות איברים או מערכות מסוימות בגוף האדם.
↑  La Tunisie Médicale Particularités cliniques du syndrome de Rett Zeineb Abbes, Asma Bouden, Soumaya Halayem, Sami Othman, Mohamed Béchir Halayem La tunisie Medicale - 2011 ; Vol 89 ( n°010 ) : 733 - 737
1 2  Recognizing and Treating Rett Syndrome in Schools Wanzek, Megan; Jenson, William R.; Houlihan, Daniel. School Psychology International, v33 n2 p151-166 Apr 2012
↑  Oman Med J. 2007 Oct;22(3):64-6. Clinical profile of five patients with Rett syndrome and literature review. Ahmed R.
↑  Sci Transl Med. 2011 Dec 14;3(113):113ra125. Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome. McCauley MD, at al.
1 2  DSM-5.0 RELEASED MAY 22SIGNIFIES CHANGE FOR RETT SYNDROME, IRSF
1 2  F84.2, ICD-10
↑  Communication Intervention in Rett Syndrome: A Systematic Review . Sigafoos, Jeff; Green, Vanessa A.; Schlosser, Ralf; O'eilly, Mark F.; Lancioni, Giulio E.; Rispoli, Mandy; Lang, Russell. Research in Autism Spectrum Disorders, v3 n2 p304-318 Apr-Jun 2009
↑  Biochem J. 2011 Oct 1;439(1):1-14. MeCP2 and Rett syndrome: reversibility and potential avenues for therapy. Gadalla KK, Bailey ME, Cobb SR.
1 2  Med Sci Monit. 2012 Jan;18(1):HY1-3. Early intervention with psychostimulants or antidepressants to increase methyl-CpG-binding protein 2 (MeCP2) expressions: a potential therapy for Rett syndrome. Pan CH, Tsai S.
↑  Orphanet J Rare Dis. 2011; 6: 58. Published online 2011 August 30. doi: 10.1186/1750-1172-6-58 PMCID: PMC3173288 2011 Ravn et al; Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations Kirstine Ravn,1,2 Gitte Roende,1 Morten Duno,3 Kathrine Fuglsang,1 Kristin L Eiklid,4 Zeynep Tümer,2 Jytte B Nielsen,1 and Ola H Skjeldal5
1 2 3  J Med Genet. 2007 Jul;44(7):417-23. Epub 2007 Mar 9. MECP2 mutations in males. Villard L.
↑  J Med Genet. 2001 Apr;38(4):217-23. Rett syndrome and the MECP2 gene. Webb T, Latif F.
↑  Ann Neurol. 2010 Dec;68(6):944-50. Rett syndrome: revised diagnostic criteria and nomenclature. Neul JL, at al.
↑  Orphanet J Rare Dis. 2011 Aug 30;6:58. Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH.
↑  MECP2 Duplication Syndrome אתר עמותת תסמונת רט, ארצות הברית
↑  Am J Med Genet A. 2012 Apr;158A(4):713-9. doi: 10.1002/ajmg.a.34206. Epub 2012 Mar 1. Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome. Armani R at al.
↑  Neuropediatrics. 2012 Feb;43(1):37-43. Epub 2012 Mar 19. Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases. Pini G at al.
↑  Pediatr Neurol. 2012 Feb;46(2):101-5. Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Moseley BD, Dhamija R, Wirrell EC, Nickels KC.
↑  Social Impairments in Rett Syndrome: Characteristics and Relationship with Clinical Severity, Kaufmann at al. Journal of Intellectual Disability Research, v56 n3 p233-247 Mar 2012
↑  Mol Syndromol. 2011 Sep;1(6):290-293. Epub 2011 Aug 9. Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome. Van der Aa N at al.
↑  “Forme fruste” of rett syndrome - a case report Bengt Hagberg MD*, Peder Rasmussen, John M. Opitz Editor, James F. Reynolds Editor Article first published online: 4 JUN 2005
↑  Nature. 2012 Mar 18. doi: 10.1038/nature10907.=Wild-type microglia arrest pathology in a mouse model of Rett syndrome. Derecki NC, Cronk JC, Lu Z, Xu E, Abbott SB, Guyenet PG, Kipnis J.
↑  PLoS One. 2012;7(3):e31896. Epub 2012 Mar 7. MeCP2 Mutation Results in Compartment-Specific Reductions in Dendritic Branching and Spine Density in Layer 5 Motor Cortical Neurons of YFP-H Mice. Stuss DP, Boyd JD, Levin DB, Delaney KR.
↑  AJNR Am J Neuroradiol. 2008 Mar;29(3):436-41. Epub 2007 Dec 7. Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study. Carter JC, Lanham DC, Pham D, Bibat G, Naidu S, Kaufmann WE.
↑  Nat Genet. 1999 Oct;23(2):185-8. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.
↑  J Neurosci. 2012 Feb 1;32(5):1803-10. A TrkB small molecule partial agonist rescues TrkB phosphorylation deficits and improves respiratory function in a mouse model of Rett syndrome. Schmid DA, Yang T, Ogier M, Adams I, Mirakhur Y, Wang Q, Massa SM, Longo FM, Katz DM.
↑  J Intellect Disabil Res. 2012 Apr;56(4):415-420. doi: 10.1111/j.1365-2788.2011.01479.x. Epub 2011 Sep 29. Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rettsyndrome: report on a mild case with a novel indel mutation. Corbani S, Chouery E, Fayyad J, Fawaz A, El Tourjuman O, Badens C, Lacoste C, Delague V, Megarbane A. 
 Hum Genet. 2009 Jan;124(6):615-23. Epub 2008 Nov 7. A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Adegbola AA, Gonzales ML, Chess A, LaSalle JM, Cox GF. 
 Brain Dev. 2009 Mar;31(3):208-16. Epub 2008 Jun 17. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, Meloni I, Cevenini G, Pini G, Hayek G, Zappella M.
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בקרת זהויות :  NLI: 987007553776705171  GND: 4260313-4  LCCN: sh86003783  NDL: 001137110  NKC: ph330263 
הבהרה: המידע בוויקיפדיה נועד להעשרה בלבד ואינו מהווה ייעוץ רפואי.
מיקומו של הגן MECP2 בכרומוזום X