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Journal Abstract Search

302 related items for PubMed ID: 17341617

  • 1. The MECP2 gene mutation screening in Rett syndrome patients from Croatia.
    Matijević T, Knezević J, Barisić I, Resić B, Culić V, Pavelić J.
    Ann N Y Acad Sci; 2006 Dec; 1091():225-32. PubMed ID: 17341617
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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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 12. Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).
    Shi J, Shibayama A, Liu Q, Nguyen VQ, Feng J, Santos M, Temudo T, Maciel P, Sommer SS.
    Hum Mutat; 2005 May 30; 25(5):505. PubMed ID: 15841480
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  • 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
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  • 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 Sep 30; 49(4):313-22. PubMed ID: 16829352
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  • 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
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