PubMed

Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.

Raizis AM, Saleem M, MacKay R, George PM.

N Z Med J. 2009 Jun 5;122(1296):21-8.PMID: 19652677 [PubMed - indexed for MEDLINE]Related articles

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence.

Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, van Bosse H, Bebbington A, Larsson EL, Smith BG, Baikie G, Fyfe S, Leonard H.

Spine (Phila Pa 1976). 2009 Aug 1;34(17):E607-17.PMID: 19644320 [PubMed - indexed for MEDLINE]Related articles

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.

Makrythanasis P, Kapranov P, Bartoloni L, Reymond A, Deutsch S, Guigó R, Denoeud F, Drenkow J, Rossier C, Ariani F, Capra V, Excoffier L, Renieri A, Gingeras TR, Antonarakis SE.

Hum Mutat. 2009 Sep;30(9):E866-79.PMID: 19562714 [PubMed - indexed for MEDLINE]Related articles

A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.

Jülich K, Horn D, Burfeind P, Erler T, Auber B.

J Pediatr. 2009 Jul;155(1):140-3.PMID: 19559301 [PubMed - indexed for MEDLINE]Related articles

Gastrostomy placement improves height and weight gain in girls with Rett syndrome.

Motil KJ, Morrissey M, Caeg E, Barrish JO, Glaze DG.

J Pediatr Gastroenterol Nutr. 2009 Aug;49(2):237-42.PMID: 19525868 [PubMed - indexed for MEDLINE]Related articles

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome.

Downs J, Young D, de Klerk N, Bebbington A, Baikie G, Leonard H.

J Pediatr Orthop. 2009 Jun;29(4):369-74.PMID: 19461379 [PubMed - indexed for MEDLINE]Related articles

Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.

Chapleau CA, Calfa GD, Lane MC, Albertson AJ, Larimore JL, Kudo S, Armstrong DL, Percy AK, Pozzo-Miller L.

Neurobiol Dis. 2009 Aug;35(2):219-33. Epub 2009 May 12.PMID: 19442733 [PubMed - indexed for MEDLINE]Related articles

Evolution of stereotypies in adolescents and women with Rett syndrome.

Vignoli A, La Briola F, Canevini MP.

Mov Disord. 2009 Jul 15;24(9):1379-83.PMID: 19425070 [PubMed - indexed for MEDLINE]Related articles

Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions.

Maezawa I, Swanberg S, Harvey D, LaSalle JM, Jin LW.

J Neurosci. 2009 Apr 22;29(16):5051-61.PMID: 19386901 [PubMed - indexed for MEDLINE]Related articlesFree article

Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin.

Khajuria R, Sapra S, Ghosh M, Gupta N, Gulati S, Kalra V, Kabra M.

Genet Test Mol Biomarkers. 2009 Apr;13(2):277-80.PMID: 19371229 [PubMed - indexed for MEDLINE]Related articles

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.

Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY.

Hum Mol Genet. 2009 Jul 1;18(13):2431-42. Epub 2009 Apr 15.PMID: 19369296 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

Saunders CJ, Minassian BE, Chow EW, Zhao W, Vincent JB.

Am J Med Genet A. 2009 May;149A(5):1019-23.PMID: 19365833 [PubMed - indexed for MEDLINE]Related articles

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome.

Zeev BB, Bebbington A, Ho G, Leonard H, de Klerk N, Gak E, Vecsler M, Christodoulou J.

Neurology. 2009 Apr 7;72(14):1242-7. Erratum in: Neurology. 2009 Jul 14;73(2):161. Vecksler, M [corrected to Vecsler, M]. PMID: 19349604 [PubMed - indexed for MEDLINE]Related articles

Myoclonic status misdiagnosed as movement disorders in Rett syndrome: a video-polygraphic study.

d'Orsi G, Demaio V, Minervini MG.

Epilepsy Behav. 2009 Jun;15(2):260-2. Epub 2009 Apr 23.PMID: 19336260 [PubMed - indexed for MEDLINE]Related articles

MeCP2 post-translational regulation through PEST domains: two novel hypotheses: potential relevance and implications for Rett syndrome.

Thambirajah AA, Eubanks JH, Ausió J.

Bioessays. 2009 May;31(5):561-9.PMID: 19319913 [PubMed - indexed for MEDLINE]Related articles

A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.

Fendri-Kriaa N, Abdelkafi Z, Rebeh IB, Kamoun F, Triki C, Fakhfakh F.

Genet Test Mol Biomarkers. 2009 Feb;13(1):109-13.PMID: 19309283 [PubMed - indexed for MEDLINE]Related articles

A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations.

Baris I, Battaloglu E.

Genet Test Mol Biomarkers. 2009 Feb;13(1):19-22.PMID: 19309269 [PubMed - indexed for MEDLINE]Related articles

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):148-52. Epub 2009 Mar 19.PMID: 19303466 [PubMed - indexed for MEDLINE]Related articles

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

Sprovieri T, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A.

Am J Med Genet A. 2009 Feb 15;149A(4):722-5.PMID: 19253388 [PubMed - indexed for MEDLINE]Related articles

Rett syndrome: what do we know for sure?

Zoghbi HY.

Nat Neurosci. 2009 Mar;12(3):239-40. No abstract available. PMID: 19238181 [PubMed - indexed for MEDLINE]Related articles