FOXG1 Reference List
Pubmed ID | Authors | Title | Journal | Volume & Page # | Year | Search RettBase |
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26364767 | McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR | Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. | American Journal of Medical Genetics | 167:3096-3102 | 2015 | GO! |
24836831 | Seltzer, L.E., Ma, M., Ahmed, S., Bertrand, M., Dobyns, W.B., Wheless, J., Paciorkowski, A.R. | Epilepsy and outcome in FOXG1-related disorders | Epilepsia | 55:1292-1300 | 2014 | GO! |
24766421 | Diebold, B., Delepine, C., Nectoux, J., Bahi-Buisson, N., Parent, P., Bienvenu, T. | Somatic mosaicism for a FOXG1 mutation: diagnostic implication. | Clinical Genetics | 85:589-591 | 2014 | GO! |
24412290 | Das, D.K., Jadhav, V., Ghattargi, V., Udani, V. | Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome | Gene | 538:109-112 | 2014 | GO! |
24388699 | De Bruyn, C., Vanderhasselt, T., Tanyalcin, I., Keymolen, K., Van Rompaey, K.L., De Meirleir, L., Jansen, A.C. | Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature | European Journal of Paediatric Neurology | 18:420-426 | 2014 | GO! |
22968132 | Ellaway, C.J., Ho, G., Bettella, E., Knapman, A., Collines, F., Hackett, A., McKenzie, F., Darmanian, A., Peters, G.B., Fagan, K., Christodoulou, J. | 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype | European Journal of Human Genetics | 21:522-527 | 2012 | GO! |
22739344 | Allou, L., Lambert, L., Amsallem, D., Bieth, E., Edery, P., Destree, A., Rivier, F., Amor, D., Thompson, E., Nicholl, J., Harbord, M., Nemos, C., Saunier, A., Moustaine, A., Vigouroux, A., Jonveaux, P., Philippe, C. | 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements | Eur J Hum Genet | 20:1216-1223 | 2012 | GO! |
22129046 | Takahashi, S., Matsumoto, N., Okayama, A., Suzuki, N, Araki, A., Okajima, K., Tanaka, H., Miyamoto, A. | FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome | Clinical Genetics | 82:569-573 | 2012 | GO! |
22091895 | De Filippis, R., Pancrazi, L., Bjorgo, K., Rosseto, A., Kleefstra, T., Grillo, E., Panighini, A., Cardarelli, F., Meloni, I., Ariani, F., Mencarelli, M.A., Hayek, J., Renieri, A., Costa, M., Mari, F. | Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics | Clinical Genetics | 82:395-403 | 2012 | GO! |
21953941 | Meneret, A., Mignot, C., An, I., Habert, M.-O., Jacquette, A., Vidaihet, M., Bienvenu, T., Roze, E. | Generalised dystonia, athetosis, and Parkinsonism associated with FOXG1 mutation | Movement Disorders | 27:160-161 | 2012 | GO! |
21488007 | Roche-Martinez, A., Gerotina, E., Armstrong-Moron, J., Sans-Capdevila, O., Pineda, M. | FOXG1, a new gene responsible for the congenital form of Rett syndrome | Rev Neurol | 52:597-602 | 2012 | GO! |
22190898 | Van der Aa, N., Van den Bergh, M., Ponomarenko, N., Verstraete, L., Ceulemans, B., Storm, K. | Analysis of FOXG1 is highly recommended in male and female patients with Rett syndrome | Molecular Syndromology | 1:290-293 | 2011 | GO! |
21441262 | Kortum, F., Das, S., Flindt, M., Morris-Rosendahl, J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L.E., Wieczorek, D., Uyanik, G., Kutsche, K., Dobyns, W.B. | The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis | Journal of Medical Genetics | 48:396-406 | 2011 | GO! |
20734096 | Le Guen, T., Bahi-Buisson, N., Nectoux, J., Boddaert, N., Fichou, Y., Diebold, B., Desguerre, I., Raqbi, F., Daire, V.C., Chelly, J., Bienvenu, T. | A FOXG1 mutation in a boy with congenital variant of Rett syndrome | Neurogenetics | 12:42217 | 2011 | GO! |
21280142 | Le Guen, T., Fichou, Y., Nectoux, J., Bahi-Buisson, N., Rivier, F., Boddaert, N., Diebold, B., Heron, D., Chelly, J., Bienvenu, T. | A missense mutation within the fork-head doamin of the forkhead box G1 gene (FOXG1) affects its nuclear localization | Human Mutation | 32:E2026-E2035 | 2010 | GO! |
19806373 | Bahi-Buisson, N., Nectoux, J., Girard, B., Van Esch, H., De Ravel, T., Boddaret, N., Plouin, P., Rio, M., Fichou, Y., Chelly, J., Bienvenu, T. | Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant | Neurogenetics | 11:241-249 | 2010 | GO! |
19578037 | Mencarelli, M.A., Spanhol-Rosseto, A., Artuso, R., Rondinela, D., De Filippis, R., Bahi-Buisson, N., Nectoux, J., Rubinsztajn, R., Bienvenu, T., Moncia, A., Chabrol, B., Villard, L., Krumina, Z., Armstrong, J., Roche, A., Pineda, M., Gak, E., Mari, F., Ariani, F., Renieri, A. | Novel FOXG1 mutations associated with the congenital variant of Rett syndrome | Journal of Medical Genetics | 47:49-53 | 2010 | GO! |
19564653 | Philippe, C., Amsallem, D., Fancannet, C., Lambert, L., Saunier, A., Verneau, F., Jonveaux, P. | Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females | Journal of Medical Genetics | 47:59-65 | 2010 | GO! |
18571142 | Ariani, F., Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M.A., Spanhol-Rosseto, A., Pollazzon, M., Buoni, S., Spiga, O., Ricciardi, S., Meloni, I., Longo, I., Mari, F., Broccoli, V., Zappella, M., Renieri, A. | FOXG1 is responsible for the congenital variant of Rett syndrome | American Journal of Human Genetics | 83:89-93 | 2008 | GO! |
Displaying 19 entries