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Results: 1 to 20 of 70

1.

Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome.

Das DK, Jadhav V, Ghattargi VC, Udani V.

Gene. 2014 Mar 15;538(1):109-12. doi: 10.1016/j.gene.2013.12.063. Epub 2014 Jan 9.

PMID:
24412290
[PubMed - indexed for MEDLINE]
2.

Systems biology approach to stage-wise characterization of epigenetic genes in lung adenocarcinoma.

Pradhan MP, Desai A, Palakal MJ.

BMC Syst Biol. 2013 Dec 26;7:141. doi: 10.1186/1752-0509-7-141.

PMID:
24369052
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes.

Razzaghian HR, Forsberg LA, Prakash KR, Przerada S, Paprocka H, Zywicka A, Westerman MP, Pedersen NL, O'Hanlon TP, Rider LG, Miller FW, Srutek E, Jankowski M, Zegarski W, Piotrowski A, Absher D, Dumanski JP.

PLoS One. 2013 Sep 4;8(9):e67752. doi: 10.1371/journal.pone.0067752. eCollection 2013.

PMID:
24023707
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.

Takagi M, Sasaki G, Mitsui T, Honda M, Tanaka Y, Hasegawa T.

Eur J Med Genet. 2013 Sep;56(9):526-8. doi: 10.1016/j.ejmg.2013.05.012. Epub 2013 Jul 26.

PMID:
23895774
[PubMed - indexed for MEDLINE]
5.

Transcriptional repression of AIB1 by FoxG1 leads to apoptosis in breast cancer cells.

Li JV, Chien CD, Garee JP, Xu J, Wellstein A, Riegel AT.

Mol Endocrinol. 2013 Jul;27(7):1113-27. doi: 10.1210/me.2012-1353. Epub 2013 May 9.

PMID:
23660594
[PubMed - indexed for MEDLINE]
6.

Human pluripotent stem cell differentiation into authentic striatal projection neurons.

Delli Carri A, Onorati M, Castiglioni V, Faedo A, Camnasio S, Toselli M, Biella G, Cattaneo E.

Stem Cell Rev. 2013 Aug;9(4):461-74. doi: 10.1007/s12015-013-9441-8.

PMID:
23625190
[PubMed - indexed for MEDLINE]
7.

Genetically determined encephalopathy: Rett syndrome.

Bahi-Buisson N.

Handb Clin Neurol. 2013;111:281-6. doi: 10.1016/B978-0-444-52891-9.00031-2. Review.

PMID:
23622176
[PubMed - indexed for MEDLINE]
8.

Epigenetic mechanisms of gene expression regulation in neurological diseases.

Gos M.

Acta Neurobiol Exp (Wars). 2013;73(1):19-37. Review.

PMID:
23595281
[PubMed - indexed for MEDLINE]
Free Article
9.

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]
10.

Coordinated development of voltage-gated Na+ and K+ currents regulates functional maturation of forebrain neurons derived from human induced pluripotent stem cells.

Song M, Mohamad O, Chen D, Yu SP.

Stem Cells Dev. 2013 May 15;22(10):1551-63. doi: 10.1089/scd.2012.0556. Epub 2013 Feb 1.

PMID:
23259973
[PubMed - indexed for MEDLINE]
11.

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]
Free Article
12.

A 3-dimensional human embryonic stem cell (hESC)-derived model to detect developmental neurotoxicity of nanoparticles.

Hoelting L, Scheinhardt B, Bondarenko O, Schildknecht S, Kapitza M, Tanavde V, Tan B, Lee QY, Mecking S, Leist M, Kadereit S.

Arch Toxicol. 2013 Apr;87(4):721-33. doi: 10.1007/s00204-012-0984-2. Epub 2012 Dec 2.

PMID:
23203475
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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]
14.

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]
15.

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]
16.

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J.

Eur J Hum Genet. 2013 May;21(5):522-7. doi: 10.1038/ejhg.2012.208. Epub 2012 Sep 12.

PMID:
22968132
[PubMed - indexed for MEDLINE]
17.

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]
Free PMC Article
18.

Do regulatory regions matter in FOXG1 duplications?

Falace A, Vanni N, Mallamaci A, Striano P, Zara F.

Eur J Hum Genet. 2013 Apr;21(4):365-6. doi: 10.1038/ejhg.2012.142. Epub 2012 Jul 4. No abstract available.

PMID:
22763380
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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]
20.

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]
Free PMC Article

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