FOXG1 Reference List



Pubmed ID Authors Title Journal Volume & Page # Year Search RettBase
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!

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