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Journal Abstract Search

302 related items for PubMed ID: 17341617

  • 1.
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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; 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. Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
    Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T.
    Eur J Med Genet; 2006 Aug; 49(1):9-18. PubMed ID: 16473305
    [Abstract] [Full Text] [Related]

  • 5. MECP2 mutations in Serbian Rett syndrome patients.
    Djarmati A, Dobricić V, Kecmanović M, Marsh P, Jancić-Stefanović J, Klein C, Djurić M, Romac S.
    Acta Neurol Scand; 2007 Dec; 116(6):413-9. PubMed ID: 17986102
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Rett syndrome: from the gene to the disease.
    Matijevic T, Knezevic J, Slavica M, Pavelic J.
    Eur Neurol; 2009 Sep; 61(1):3-10. PubMed ID: 18948693
    [Abstract] [Full Text] [Related]

  • 8. 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; 22(12):1397-400. PubMed ID: 18174559
    [Abstract] [Full Text] [Related]

  • 9. Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome.
    Kim IJ, Kim YJ, Son BH, Nam SO, Kang HC, Kim HD, Yoo MA, Choi OH, Kim CM.
    Exp Mol Med; 2006 Apr 30; 38(2):119-25. PubMed ID: 16672765
    [Abstract] [Full Text] [Related]

  • 10. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.
    Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Mátyás G.
    Clin Genet; 2006 Apr 30; 69(4):319-26. PubMed ID: 16630165
    [Abstract] [Full Text] [Related]

  • 11. Large genomic rearrangements in MECP2.
    Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hulten M, Schwartz M.
    Hum Mutat; 2005 Mar 30; 25(3):324. PubMed ID: 15712379
    [Abstract] [Full Text] [Related]

  • 12.
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  • 13. Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
    Monnerat LS, Moreira Ados S, Alves MC, Bonvicino CR, Vargas FR.
    Brain Dev; 2010 Nov 30; 32(10):843-8. PubMed ID: 20031356
    [Abstract] [Full Text] [Related]

  • 14. Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
    Bienvenu T, Souville I, Poirier K, Aquaviva C, Burglen L, Amiel J, Héron B, Kaminska A, Couvert P, Beldjord C, Chelly J.
    Hum Mutat; 2001 Sep 30; 18(3):251-2. PubMed ID: 11524737
    [Abstract] [Full Text] [Related]

  • 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 30; 17(3):183-90. PubMed ID: 11241840
    [Abstract] [Full Text] [Related]

  • 16. Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
    Quenard A, Yilmaz S, Fontaine H, Bienvenu T, Moncla A, des Portes V, Rivier F, Mathieu M, Raux G, Jonveaux P, Philippe C.
    Eur J Med Genet; 2006 Mar 30; 49(4):313-22. PubMed ID: 16829352
    [Abstract] [Full Text] [Related]

  • 17. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
    Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J.
    Eur J Hum Genet; 2007 Dec 30; 15(12):1218-29. PubMed ID: 17712354
    [Abstract] [Full Text] [Related]

  • 18.
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  • 19. Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.
    Temudo T, Oliveira P, Santos M, Dias K, Vieira J, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Dias A, Cabral P, Monteiro J, Borges L, Gomes R, Barbosa C, Mira G, Eusébio F, Santos M, Sequeiros J, Maciel P.
    Neurology; 2007 Apr 10; 68(15):1183-7. PubMed ID: 17420401
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