Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    Results: 1 to 20 of 60

    1.

    Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.

    Das DK, Raha S, Sanghavi D, Maitra A, Udani V.

    Gene. 2013 Feb 15;515(1):78-83. doi: 10.1016/j.gene.2012.11.024. Epub 2012 Dec 20.

    PMID:
    23262346
    [PubMed - indexed for MEDLINE]
    2.

    Developmentally coordinated extrinsic signals drive human pluripotent stem cell differentiation toward authentic DARPP-32+ medium-sized spiny neurons.

    Carri AD, Onorati M, Lelos MJ, Castiglioni V, Faedo A, Menon R, Camnasio S, Vuono R, Spaiardi P, Talpo F, Toselli M, Martino G, Barker RA, Dunnett SB, Biella G, Cattaneo E.

    Development. 2013 Jan 15;140(2):301-12. doi: 10.1242/dev.084608.

    PMID:
    23250204
    [PubMed - indexed for MEDLINE]
    3.

    Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma.

    Sturm D, Witt H, Hovestadt V, Khuong-Quang DA, Jones DT, Konermann C, Pfaff E, Tönjes M, Sill M, Bender S, Kool M, Zapatka M, Becker N, Zucknick M, Hielscher T, Liu XY, Fontebasso AM, Ryzhova M, Albrecht S, Jacob K, Wolter M, Ebinger M, Schuhmann MU, van Meter T, Frühwald MC, Hauch H, Pekrun A, Radlwimmer B, Niehues T, von Komorowski G, Dürken M, Kulozik AE, Madden J, Donson A, Foreman NK, Drissi R, Fouladi M, Scheurlen W, von Deimling A, Monoranu C, Roggendorf W, Herold-Mende C, Unterberg A, Kramm CM, Felsberg J, Hartmann C, Wiestler B, Wick W, Milde T, Witt O, Lindroth AM, Schwartzentruber J, Faury D, Fleming A, Zakrzewska M, Liberski PP, Zakrzewski K, Hauser P, Garami M, Klekner A, Bognar L, Morrissy S, Cavalli F, Taylor MD, van Sluis P, Koster J, Versteeg R, Volckmann R, Mikkelsen T, Aldape K, Reifenberger G, Collins VP, Majewski J, Korshunov A, Lichter P, Plass C, Jabado N, Pfister SM.

    Cancer Cell. 2012 Oct 16;22(4):425-37. doi: 10.1016/j.ccr.2012.08.024.

    PMID:
    23079654
    [PubMed - indexed for MEDLINE]
    4.

    Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

    Guerrini R, Parrini E.

    Epilepsia. 2012 Dec;53(12):2067-78. doi: 10.1111/j.1528-1167.2012.03656.x. Epub 2012 Sep 21. Review.

    PMID:
    22998673
    [PubMed - indexed for MEDLINE]
    5.

    Molecular characteristics of Chinese patients with Rett syndrome.

    Zhang X, Bao X, Zhang J, Zhao Y, Cao G, Pan H, Zhang J, Wei L, Wu X.

    Eur J Med Genet. 2012 Dec;55(12):677-81. doi: 10.1016/j.ejmg.2012.08.009. Epub 2012 Aug 27.

    PMID:
    22982301
    [PubMed - indexed for MEDLINE]
    6.

    TBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent manner.

    Esmailpour T, Huang T.

    Stem Cells. 2012 Oct;30(10):2152-63. doi: 10.1002/stem.1187.

    PMID:
    22865636
    [PubMed - indexed for MEDLINE]
    7.

    A Fox stops the Wnt: implications for forebrain development and diseases.

    Danesin C, Houart C.

    Curr Opin Genet Dev. 2012 Aug;22(4):323-30. doi: 10.1016/j.gde.2012.05.001. Epub 2012 Jun 27. Review.

    PMID:
    22742851
    [PubMed - indexed for MEDLINE]
    8.

    14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

    Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C.

    Eur J Hum Genet. 2012 Dec;20(12):1216-23. doi: 10.1038/ejhg.2012.127. Epub 2012 Jun 27.

    PMID:
    22739344
    [PubMed - indexed for MEDLINE]
    9.

    Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.

    Santen GW, Sun Y, Gijsbers AC, Carré A, Holvoet M, Haeringen Av, Lesnik Oberstein SA, Tomoda A, Mabe H, Polak M, Devriendt K, Ruivenkamp CA, Bijlsma EK.

    J Med Genet. 2012 Jun;49(6):366-72. doi: 10.1136/jmedgenet-2011-100721. Epub 2012 May 25.

    PMID:
    22636604
    [PubMed - indexed for MEDLINE]
    10.

    Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.

    Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Roche-Martinez A, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A.

    Hum Mutat. 2012 Jul;33(7):1031-6. doi: 10.1002/humu.22072. Epub 2012 Apr 13.

    PMID:
    22415763
    [PubMed - indexed for MEDLINE]
    11.

    Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome.

    Armani R, Archer H, Clarke A, Vasudevan P, Zweier C, Ho G, Williamson S, Cloosterman D, Yang N, Christodoulou J.

    Am J Med Genet A. 2012 Apr;158A(4):713-9. doi: 10.1002/ajmg.a.34206. Epub 2012 Mar 1.

    PMID:
    22383159
    [PubMed - indexed for MEDLINE]
    12.

    Questionable pathogenicity of FOXG1 duplication.

    Amor DJ, Burgess T, Tan TY, Pertile MD.

    Eur J Hum Genet. 2012 Jun;20(6):595-6; author reply 596-7. doi: 10.1038/ejhg.2011.267. Epub 2012 Jan 18. No abstract available.

    PMID:
    22258524
    [PubMed - indexed for MEDLINE]
    13.

    FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.

    Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A.

    Clin Genet. 2012 Dec;82(6):569-73. doi: 10.1111/j.1399-0004.2011.01819.x. Epub 2011 Dec 16.

    PMID:
    22129046
    [PubMed - indexed for MEDLINE]
    14.

    Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.

    De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli MA, Hayek J, Renieri A, Costa M, Mari F.

    Clin Genet. 2012 Oct;82(4):395-403. doi: 10.1111/j.1399-0004.2011.01810.x. Epub 2011 Dec 13.

    PMID:
    22091895
    [PubMed - indexed for MEDLINE]
    15.

    Anti-Aβ drug screening platform using human iPS cell-derived neurons for the treatment of Alzheimer's disease.

    Yahata N, Asai M, Kitaoka S, Takahashi K, Asaka I, Hioki H, Kaneko T, Maruyama K, Saido TC, Nakahata T, Asada T, Yamanaka S, Iwata N, Inoue H.

    PLoS One. 2011;6(9):e25788. doi: 10.1371/journal.pone.0025788. Epub 2011 Sep 30.

    PMID:
    21984949
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation.

    Méneret A, Mignot C, An I, Habert MO, Jacquette A, Vidailhet M, Bienvenu T, Roze E.

    Mov Disord. 2012 Jan;27(1):160-1. doi: 10.1002/mds.23956. Epub 2011 Sep 23. No abstract available.

    PMID:
    21953941
    [PubMed - indexed for MEDLINE]
    17.

    Shh and Gli3 regulate formation of the telencephalic-diencephalic junction and suppress an isthmus-like signaling source in the forebrain.

    Rash BG, Grove EA.

    Dev Biol. 2011 Nov 15;359(2):242-50. doi: 10.1016/j.ydbio.2011.08.026. Epub 2011 Sep 7.

    PMID:
    21925158
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.

    Tohyama J, Yamamoto T, Hosoki K, Nagasaki K, Akasaka N, Ohashi T, Kobayashi Y, Saitoh S.

    Am J Med Genet A. 2011 Oct;155A(10):2584-8. doi: 10.1002/ajmg.a.34224. Epub 2011 Sep 9.

    PMID:
    21910242
    [PubMed - indexed for MEDLINE]
    19.

    iPS cells to model CDKL5-related disorders.

    Amenduni M, De Filippis R, Cheung AY, Disciglio V, Epistolato MC, Ariani F, Mari F, Mencarelli MA, Hayek Y, Renieri A, Ellis J, Meloni I.

    Eur J Hum Genet. 2011 Dec;19(12):1246-55. doi: 10.1038/ejhg.2011.131. Epub 2011 Jul 13.

    PMID:
    21750574
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    West syndrome associated with 14q12 duplications harboring FOXG1.

    Striano P, Paravidino R, Sicca F, Chiurazzi P, Gimelli S, Coppola A, Robbiano A, Traverso M, Pintaudi M, Giovannini S, Operto F, Vigliano P, Granata T, Coppola G, Romeo A, Specchio N, Giordano L, Osborne LR, Gimelli G, Minetti C, Zara F.

    Neurology. 2011 May 3;76(18):1600-2. doi: 10.1212/WNL.0b013e3182194bbf. No abstract available.

    PMID:
    21536641
    [PubMed - indexed for MEDLINE]

      Display Settings:

      Format
      Items per page
      Sort by

      Send to:

      Choose Destination

      Supplemental Content

      Find related data

      Search details

      See more...

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk