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Autor:
Vontell, Regina Theresa, Supramaniam, Veena, Davidson, Alice, Thornton, Claire, Marnerides, Andreas, Holder-Espinasse, Muriel, Lillis, Suzanne, Yau, Michael, Jansson, Mattias, Hagberg, Henrik, Rutherford, Mary Ann
Publikováno v:
Frontiers in Physiology
Vontell, R T, Supramaniam, V, Davidson, A, Thornton, C, Marnerides, A, Holder-Espinasse, M, Lillis, S, Yau, M, Jansson, M, Hagberg, H & Rutherford, M A 2019, ' Post-mortem Characterisation of a Case with an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia ', Frontiers in Physiology, vol. 10, no. MAY, 623 . https://doi.org/10.3389/fphys.2019.00623
Vontell, R T, Supramaniam, V, Davidson, A, Thornton, C, Marnerides, A, Holder-Espinasse, M, Lillis, S, Yau, M, Jansson, M, Hagberg, H & Rutherford, M A 2019, ' Post-mortem Characterisation of a Case with an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia ', Frontiers in Physiology, vol. 10, no. MAY, 623 . https://doi.org/10.3389/fphys.2019.00623
Cytoplasmic Actin Gamma 1 (ACTG1) gene variant are autosomal dominant and can cause CNS anomalies (Baraitser Winter Malformation Syndrome; BWMS). ACTG1 anomalies in offspring include agenesis of the corpus callosum (ACC) and neuronal heterotopia whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e7dfb6d0557914e54b5b9a3de22cb258
Autor:
Lockwood estrin , Georgia, Kyriakopoulou, Vanessa, Makropoulos, Antonis, Ball, Gareth David, Kuhendran, Lakshmi, Chew, Andrew, Hagnerg, Bibbi, Martinez-Biarge, Miriam, Allsop, Joanna, Fox, Matthew, Counsell, Serena Jane, Rutherford, Mary Ann
Publikováno v:
NeuroImage: Clinical, Vol 11, Iss C, Pp 139-148 (2016)
Lockwood estrin, G, Kyriakopoulou, V, Makropoulos, A, Ball, G D, Kuhendran, L, Chew, A, Hagnerg, B, Martinez-Biarge, M, Allsop, J, Fox, M, Counsell, S J & Rutherford, M A 2016, ' Altered white matter and cortical structure in neonates with antenatally diagnosed isolated ventriculomegaly ', NeuroImage. Clinical, vol. 11, pp. 139–148 . https://doi.org/10.1016/j.nicl.2016.01.012
Lockwood estrin, G, Kyriakopoulou, V, Makropoulos, A, Ball, G D, Kuhendran, L, Chew, A, Hagnerg, B, Martinez-Biarge, M, Allsop, J, Fox, M, Counsell, S J & Rutherford, M A 2016, ' Altered white matter and cortical structure in neonates with antenatally diagnosed isolated ventriculomegaly ', NeuroImage. Clinical, vol. 11, pp. 139–148 . https://doi.org/10.1016/j.nicl.2016.01.012
Ventriculomegaly (VM) is the most common central nervous system abnormality diagnosed antenatally, and is associated with developmental delay in childhood. We tested the hypothesis that antenatally diagnosed isolated VM represents a biological marker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cf97b732db08eff819b117ea8125c613