These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

249 related items for PubMed ID: 15712379

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

  • 2. 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; 15(12):1218-29. PubMed ID: 17712354
    [Abstract] [Full Text] [Related]

  • 3. 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; 69(4):319-26. PubMed ID: 16630165
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome.
    Schollen E, Smeets E, Deflem E, Fryns JP, Matthijs G.
    Hum Mutat; 2003 Aug; 22(2):116-20. PubMed ID: 12872251
    [Abstract] [Full Text] [Related]

  • 6. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.
    Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Wu XR.
    J Child Neurol; 2008 Jan; 23(1):22-5. PubMed ID: 18184939
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. 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]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
    Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ.
    J Med Genet; 2006 May; 43(5):451-6. PubMed ID: 16183801
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.
    Petel-Galil Y, Ben-Zeev B, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E.
    J Med Genet; 2007 Feb; 44(2):e56. PubMed ID: 17407838
    [Abstract] [Full Text] [Related]

  • 15. [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]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 18. 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; 18(3):251-2. PubMed ID: 11524737
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.
    Buoni S, Zannolli R, Felice CD, Saponari S, Strambi M, Dotti MT, Castrucci E, Corbini L, Orsi A, Hayek J.
    Clin Neurophysiol; 2008 Nov; 119(11):2455-8. PubMed ID: 18842453
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 13.