331 related articles for article (PubMed ID: 12112734)
1. The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.
Hammer S; Dorrani N; Dragich J; Kudo S; Schanen C
Ment Retard Dev Disabil Res Rev; 2002; 8(2):94-8. PubMed ID: 12112734
[TBL] [Abstract][Full Text] [Related]
2. 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; 81(6):346-54. PubMed ID: 12750821
[TBL] [Abstract][Full Text] [Related]
3. Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.
Amir RE; Zoghbi HY
Am J Med Genet; 2000; 97(2):147-52. PubMed ID: 11180222
[TBL] [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; 34(6):487-95. PubMed ID: 21982064
[TBL] [Abstract][Full Text] [Related]
5. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.
Hoffbuhr KC; Moses LM; Jerdonek MA; Naidu S; Hoffman EP
Ment Retard Dev Disabil Res Rev; 2002; 8(2):99-105. PubMed ID: 12112735
[TBL] [Abstract][Full Text] [Related]
6. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
Wan M; Lee SS; Zhang X; Houwink-Manville I; Song HR; Amir RE; Budden S; Naidu S; Pereira JL; Lo IF; Zoghbi HY; Schanen NC; Francke U
Am J Hum Genet; 1999 Dec; 65(6):1520-9. PubMed ID: 10577905
[TBL] [Abstract][Full Text] [Related]
7. MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.
Christodoulou J; Weaving LS
J Child Neurol; 2003 Oct; 18(10):669-74. PubMed ID: 14649547
[TBL] [Abstract][Full Text] [Related]
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
Nat Genet; 1999 Oct; 23(2):185-8. PubMed ID: 10508514
[TBL] [Abstract][Full Text] [Related]
9. A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
Meloni I; Bruttini M; Longo I; Mari F; Rizzolio F; D'Adamo P; Denvriendt K; Fryns JP; Toniolo D; Renieri A
Am J Hum Genet; 2000 Oct; 67(4):982-5. PubMed ID: 10986043
[TBL] [Abstract][Full Text] [Related]
10. Another patient with MECP2 mutation without classic Rett syndrome phenotype.
Milani D; Pantaleoni C; D'Arrigo S; Selicorni A; Riva D
Pediatr Neurol; 2005 May; 32(5):355-7. PubMed ID: 15866439
[TBL] [Abstract][Full Text] [Related]
11. Rethinking the fate of males with mutations in the gene that causes Rett syndrome.
Schanen C
Brain Dev; 2001 Dec; 23 Suppl 1():S144-6. PubMed ID: 11738861
[TBL] [Abstract][Full Text] [Related]
12. Classic Rett syndrome in a boy with R133C mutation of MECP2.
Masuyama T; Matsuo M; Jing JJ; Tabara Y; Kitsuki K; Yamagata H; Kan Y; Miki T; Ishii K; Kondo I
Brain Dev; 2005 Sep; 27(6):439-42. PubMed ID: 16122633
[TBL] [Abstract][Full Text] [Related]
13. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.
Trappe R; Laccone F; Cobilanschi J; Meins M; Huppke P; Hanefeld F; Engel W
Am J Hum Genet; 2001 May; 68(5):1093-101. PubMed ID: 11309679
[TBL] [Abstract][Full Text] [Related]
14. MeCP2 mutations in children with and without the phenotype of Rett syndrome.
Hoffbuhr K; Devaney JM; LaFleur B; Sirianni N; Scacheri C; Giron J; Schuette J; Innis J; Marino M; Philippart M; Narayanan V; Umansky R; Kronn D; Hoffman EP; Naidu S
Neurology; 2001 Jun; 56(11):1486-95. PubMed ID: 11402105
[TBL] [Abstract][Full Text] [Related]
15. X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.
Braunschweig D; Simcox T; Samaco RC; LaSalle JM
Hum Mol Genet; 2004 Jun; 13(12):1275-86. PubMed ID: 15115765
[TBL] [Abstract][Full Text] [Related]
16. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
Kim SJ; Cook EH
Hum Mutat; 2000 Apr; 15(4):382-3. PubMed ID: 10737989
[TBL] [Abstract][Full Text] [Related]
17. MECP2 is highly mutated in X-linked mental retardation.
Couvert P; Bienvenu T; Aquaviva C; Poirier K; Moraine C; Gendrot C; Verloes A; Andrès C; Le Fevre AC; Souville I; Steffann J; des Portes V; Ropers HH; Yntema HG; Fryns JP; Briault S; Chelly J; Cherif B
Hum Mol Genet; 2001 Apr; 10(9):941-6. PubMed ID: 11309367
[TBL] [Abstract][Full Text] [Related]
18. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.
Schwartzman JS; Bernardino A; Nishimura A; Gomes RR; Zatz M
Neuropediatrics; 2001 Jun; 32(3):162-4. PubMed ID: 11521215
[TBL] [Abstract][Full Text] [Related]
19. De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.
Kleefstra T; Yntema HG; Oudakker AR; Romein T; Sistermans E; Nillessen W; van Bokhoven H; de Vries BB; Hamel BC
Clin Genet; 2002 May; 61(5):359-62. PubMed ID: 12081720
[TBL] [Abstract][Full Text] [Related]
20. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.
Shahbazian MD; Zoghbi HY
Curr Opin Neurol; 2001 Apr; 14(2):171-6. PubMed ID: 11262731
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
