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Journal Abstract Search

1056 related items for PubMed ID: 12112735

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  • 2. 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; 8(5):325-30. PubMed ID: 10854091
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  • 3. 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; 27(3):211-7. PubMed ID: 15737703
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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; 45(4):231-6. PubMed ID: 10944854
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  • 8. 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; 10(1):77-81. PubMed ID: 11896459
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  • 9. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
    Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N.
    Eur J Hum Genet; 2001 Mar; 9(3):178-84. PubMed ID: 11313756
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  • 11. Genetic basis of Rett syndrome.
    Van den Veyver IB, Zoghbi HY.
    Ment Retard Dev Disabil Res Rev; 2002 Mar; 8(2):82-6. PubMed ID: 12112732
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  • 18. 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; 9(7):556-8. PubMed ID: 11464249
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