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Journal Abstract Search

247 related items for PubMed ID: 11571704

  • 1. Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed.
    Xiang F, Stenbom Y, Anvret M, Hagberg B.
    Neuropediatrics; 2001 Aug; 32(4):217-8. PubMed ID: 11571704
    [Abstract] [Full Text] [Related]

  • 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; 27(3):211-7. PubMed ID: 15737703
    [Abstract] [Full Text] [Related]

  • 3. [Mutational analysis of MECP2 gene in Rett syndrome].
    Pan H, Wang Y, Meng H, Bao X, Zhang Y, Shen Y, Wu X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Aug; 19(4):276-80. PubMed ID: 12170461
    [Abstract] [Full Text] [Related]

  • 4. Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation.
    Kaufmann WE, Jarrar MH, Wang JS, Lee YJ, Reddy S, Bibat G, Naidu S.
    Brain Dev; 2005 Aug; 27(5):331-9. PubMed ID: 16023547
    [Abstract] [Full Text] [Related]

  • 5. Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.
    Yamada Y, Miura K, Kumagai T, Hayakawa C, Miyazaki S, Matsumoto A, Kurosawa K, Nomura N, Taniguchi H, Sonta SI, Yamanaka T, Wakamatsu N.
    Hum Mutat; 2001 Sep; 18(3):253. PubMed ID: 11524741
    [Abstract] [Full Text] [Related]

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  • 7. Indication for genetic testing: a checklist for Rett syndrome.
    Huppke P, Köhler K, Laccone F, Hanefeld F.
    J Pediatr; 2003 Mar; 142(3):332-5. PubMed ID: 12640384
    [Abstract] [Full Text] [Related]

  • 8. 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 Mar; 8(2):99-105. PubMed ID: 12112735
    [Abstract] [Full Text] [Related]

  • 9. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
    Amano K, Nomura Y, Segawa M, Yamakawa K.
    J Hum Genet; 2000 Mar; 45(4):231-6. PubMed ID: 10944854
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

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  • 12. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
    Miltenberger-Miltenyi G, Laccone F.
    Hum Mutat; 2003 Aug; 22(2):107-15. PubMed ID: 12872250
    [Abstract] [Full Text] [Related]

  • 13. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.
    Laccone F, Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D.
    Hum Mutat; 2004 Mar; 23(3):234-44. PubMed ID: 14974082
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.
    Kleefstra T, Yntema HG, Nillesen WM, Oudakker AR, Mullaart RA, Geerdink N, van Bokhoven H, de Vries BB, Sistermans EA, Hamel BC.
    Eur J Hum Genet; 2004 Jan; 12(1):24-8. PubMed ID: 14560307
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.
    Huppke P, Held M, Hanefeld F, Engel W, Laccone F.
    Neuropediatrics; 2002 Apr; 33(2):63-8. PubMed ID: 12075485
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. [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 Jan; 214(5):291-4. PubMed ID: 12235545
    [Abstract] [Full Text] [Related]

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