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Journal Abstract Search

284 related items for PubMed ID: 11569169

  • 1. [Analysis of the most frequent mutations in girls with Rett syndrome].
    Rosipal R, Zeman J, Hadac J, Misovicová N, Nevsímalová S, Martásek P.
    Cas Lek Cesk; 2001 Aug 02; 140(15):473-6. PubMed ID: 11569169
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  • 2. Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.
    Fukuda T, Yamashita Y, Nagamitsu S, Miyamoto K, Jin JJ, Ohmori I, Ohtsuka Y, Kuwajima K, Endo S, Iwai T, Yamagata H, Tabara Y, Miki T, Matsuishi T, Kondo I.
    Brain Dev; 2005 Apr 02; 27(3):211-7. PubMed ID: 15737703
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  • 3. [Clinical and molecular genetic findings in four girls with Rett syndrome].
    Deutscher K, Deutscher J, Bergmann L, Tefs K, Reichwald K, Schuster V.
    Klin Padiatr; 2002 Apr 02; 214(5):291-4. PubMed ID: 12235545
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  • 5. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
    Amano K, Nomura Y, Segawa M, Yamakawa K.
    J Hum Genet; 2000 Apr 02; 45(4):231-6. PubMed ID: 10944854
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  • 6. Preserved speech variant is allelic of classic Rett syndrome.
    De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A.
    Eur J Hum Genet; 2000 May 02; 8(5):325-30. PubMed ID: 10854091
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  • 7. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.
    Topçu M, Akyerli C, Sayi A, Törüner GA, Koçoğlu SR, Cimbiş M, Ozçelik T.
    Eur J Hum Genet; 2002 Jan 02; 10(1):77-81. PubMed ID: 11896459
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  • 9. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders.
    Wong VC, Li SY.
    J Child Neurol; 2007 Dec 02; 22(12):1397-400. PubMed ID: 18174559
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  • 10. Genetic basis of Rett syndrome.
    Van den Veyver IB, Zoghbi HY.
    Ment Retard Dev Disabil Res Rev; 2002 Dec 02; 8(2):82-6. PubMed ID: 12112732
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  • 11. 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 Dec 02; 8(2):99-105. PubMed ID: 12112735
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  • 12. 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 02; 32(5):355-7. PubMed ID: 15866439
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  • 13. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
    Miltenberger-Miltenyi G, Laccone F.
    Hum Mutat; 2003 Aug 02; 22(2):107-15. PubMed ID: 12872250
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  • 14. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.
    Vourc'h P, Bienvenu T, Beldjord C, Chelly J, Barthélémy C, Müh JP, Andres C.
    Eur J Hum Genet; 2001 Jul 02; 9(7):556-8. PubMed ID: 11464249
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  • 15. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
    Laccone F, Huppke P, Hanefeld F, Meins M.
    Hum Mutat; 2001 Mar 02; 17(3):183-90. PubMed ID: 11241840
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  • 16. Rett syndrome: a prototypical neurodevelopmental disorder.
    Neul JL, Zoghbi HY.
    Neuroscientist; 2004 Apr 02; 10(2):118-28. PubMed ID: 15070486
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