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317 related items for PubMed ID: 34502518
1. MECP2-Related Disorders in Males. Pascual-Alonso A, Martínez-Monseny AF, Xiol C, Armstrong J. Int J Mol Sci; 2021 Sep 04; 22(17):. PubMed ID: 34502518 [Abstract] [Full Text] [Related]
2. Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation. Jentarra GM, Olfers SL, Rice SG, Srivastava N, Homanics GE, Blue M, Naidu S, Narayanan V. BMC Neurosci; 2010 Feb 17; 11():19. PubMed ID: 20163734 [Abstract] [Full Text] [Related]
3. Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Heckman LD, Chahrour MH, Zoghbi HY. Elife; 2014 Jun 26; 3():. PubMed ID: 24970834 [Abstract] [Full Text] [Related]
4. MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H. Brain Dev; 2012 Jun 26; 34(6):487-95. PubMed ID: 21982064 [Abstract] [Full Text] [Related]
5. A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy. Soffer OD, Sidlow R. Am J Med Genet A; 2016 Jul 26; 170(7):1881-3. PubMed ID: 27090848 [Abstract] [Full Text] [Related]
6. Rett syndrome: the complex nature of a monogenic disease. Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F. J Mol Med (Berl); 2003 Jun 26; 81(6):346-54. PubMed ID: 12750821 [Abstract] [Full Text] [Related]
8. An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report. Liang J, Xin C, Xin M, Wang G, Wu X. BMC Med Genomics; 2023 Aug 03; 16(1):181. PubMed ID: 37537631 [Abstract] [Full Text] [Related]
14. From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. Sheikh TI, Ausió J, Faghfoury H, Silver J, Lane JB, Eubanks JH, MacLeod P, Percy AK, Vincent JB. Sci Rep; 2016 Dec 08; 6():38590. PubMed ID: 27929079 [Abstract] [Full Text] [Related]