Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Melanie Einsiedler"'
Autor:
Adam C. O’Neill, Christina Kyrousi, Melanie Einsiedler, Ingo Burtscher, Micha Drukker, David M. Markie, Edwin P. Kirk, Magdalena Götz, Stephen P. Robertson, Silvia Cappello
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 12 (2018)
Disorders of neuronal mispositioning during brain development are phenotypically heterogeneous and their genetic causes remain largely unknown. Here, we report biallelic variants in a Hippo signaling factor—MOB2—in a patient with one such disorde
Externí odkaz:
https://doaj.org/article/55a80b0d7f3942dc8de72836ea5c1499
Autor:
Jacques L. Michaud, Andrew J. Sutherland-Smith, Silvia Cappello, Magdalena Götz, Stephen P. Robertson, Jackie Thomas, Mary J Gray, Teresa Neuhann, Helen McNeill, Michael A. Simpson, Zandra A. Jenkins, Patrick Shannon, David Chitayat, Michael A. Black, Lionel Van Maldergem, Myriam Srour, Marielle Swinkells, Victoria Morrison, Fadi F. Hamdan, Tami Uster, Louise C. Wilson, Simona Lange, David Markie, Nadia Preitner, Nataliya Di Donato, Timothy R. Morgan, Petra J. G. Zwijnenburg, Sahar Mansour, Caroline Badouel, Melanie Einsiedler, Paulien A Terhal, Ruth Newbury-Ecob
Publikováno v:
Cappello, S, Gray, M J, Badouel, C, de Lange, S, Einsiedler, M, Srour, M, Chitayat, D, Hamdan, F F, Jenkins, Z A, Morgan, T, Preitner, N, Uster, T, Thomas, J, Shannon, P, Morrison, V, Di Donato, N, van Maldergem, L, Neuhann, T, Newbury-Ecob, R, Swinkells, M, Terhal, P, Wilson, L C, Zwijnenburg, P J G, Sutherland-Smith, A J, Black, M A, Markie, D, Michaud, J L, Simpson, M A, Mansour, S, McNeill, H, Gotz, M & Robertson, S P 2013, ' Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development ', Nature Genetics, vol. 45, no. 11, pp. 1300-1308 . https://doi.org/10.1038/ng.2765
Nature Genetics, 45(11), 1300-1308. Nature Publishing Group
Nature Genetics, 45(11), 1300-1308. Nature Publishing Group
The regulated proliferation and differentiation of neural stem cells before the generation and migration of neurons in the cerebral cortex are central aspects of mammalian development. Periventricular neuronal heterotopia, a specific form of mislocal