Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ruth O Braden"'
Autor:
Angela T Morgan, Kate Pope, Himanshu Goel, Ingrid E. Scheffer, Richard J. Leventer, Ruth O Braden, Jessica O Boyce, Chloe A Stutterd
Publikováno v:
Neurology. 96:e1898-e1912
ObjectiveTo determine whether specific speech, language, and oromotor profiles are associated with different patterns of polymicrogyria, we assessed 52 patients with polymicrogyria using a battery of standardized tests and correlated findings with to
Autor:
Maggie M K Wong, Chloé Quélin, Tjitske Kleefstra, Arie van Haeringen, Simon E. Fisher, Mathilde Nizon, Massimiliano Rossi, Sandra Whalen, Angela T Morgan, Erin F Otness, Gaetan Lesca, Raphael Bernier, Siddharth Srivastava, Nadieh A Jansen, Ruth O Braden, Bregje W.M. van Bon
Publikováno v:
European Journal of Human Genetics, 29(8), 1198-1205. SPRINGERNATURE
Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics, 29, 8, pp. 1198-1205
European Journal of Human Genetics, 29, 1198-1205
Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics, 29, 8, pp. 1198-1205
European Journal of Human Genetics, 29, 1198-1205
Item does not contain fulltext SETBP1 haploinsufficiency disorder (MIM#616078) is caused by haploinsufficiency of SETBP1 on chromosome 18q12.3, but there has not yet been any systematic evaluation of the major features of this monogenic syndrome, ass
Autor:
Maggie MK Wong, Rosalie A Kampen, Ruth O Braden, Gökberk Alagöz, Michael S Hildebrand, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert BA de Vries, Alexander JM Dingemans, Frances Elmslie, Giovanni B Ferrero, Nadieh A Jansen, Ingrid MBH van de Laar, Alice Moroni, David Mowat, Lucinda Murray, Francesca Novara, Angela Peron, Ingrid E Scheffer, Fabio Sirchia, Samantha J Turner, Aglaia Vignoli, Arianna Vino, Sacha Weber, Wendy K Chung, Marion Gerard, Vanessa López-González, Elizabeth Palmer, Angela T Morgan, Bregje W van Bon, Simon E Fisher
Publikováno v:
medRxiv
Germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders. Heterozygous missense variants at a hotspot encoding a canonical degron lead to SETBP1 accumulation and Schinzel-Giedion syndrome (SGS), a rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d78967a32ce84431daf9ab39c0fd6033
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7
Autor:
Sheena Reilly, Kerryn Saunders, Frédérique Liégeois, David Coman, Michael S. Hildebrand, Jozef Gecz, Himanshu Goel, Martin B. Delatycki, Melanie Bahlo, Ingrid E. Scheffer, Anne Baxter, Samantha J. Turner, Kristin A Rigbye, Michael Hayman, Alan Connelly, Sarah Barton, Matthew Coleman, Georgia A Paxton, Michael C Fahey, Simon E. Fisher, Ruth O Braden, David J. Amor, Thomas S. Scerri, Olivia van Reyk, Victoria E. Jackson, Amber Boys, Noni M Davis, Richard D. Webster, Bronwyn Parry-Fielder, Angela T Morgan, Alan Ma
Publikováno v:
Neurology, 94, 20, pp. e2148-e2167
Neurology, 94, e2148-e2167
Neurology
Neurology, 94, e2148-e2167
Neurology
ObjectiveDetermining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained.
Autor:
Lottie D. Morison, Ruth O. Braden, David J. Amor, Amanda Brignell, Bregje W. M. van Bon, Angela T. Morgan
Publikováno v:
European Journal of Human Genetics, 30, 7, pp. 800-811
Eur J Hum Genet
European Journal of Human Genetics, 30, 800-811
Eur J Hum Genet
European Journal of Human Genetics, 30, 800-811
Item does not contain fulltext Speech and language impairments are commonly reported in DYRK1A syndrome. Yet, speech and language abilities have not been systematically examined in a prospective cohort study. Speech, language, social behaviour, feedi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9083b3f64d9918b1d7361a8da3d52d47
https://repository.ubn.ru.nl/handle/2066/284812
https://repository.ubn.ru.nl/handle/2066/284812
Autor:
Varoona Bizaoui, Siddharth Srivastava, Simon E. Fisher, Angela T Morgan, Bregje W.M. van Bon, Ruth O Braden, Adam P. Vogel, David J. Amor, Estelle Colin, Frédérique Liégeois, Maggie M K Wong, Kara Ranguin
Publikováno v:
European Journal of Human Genetics, 29, 8, pp. 1216-1225
Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics, 29, 1216-1225
Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics, 29, 1216-1225
Contains fulltext : 237908.pdf (Publisher’s version ) (Closed access) Expressive communication impairment is associated with haploinsufficiency of SETBP1, as reported in small case series. Heterozygous pathogenic loss-of-function (LoF) variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::160f7f0e2136b02162ce5997fa89be75
https://repository.ubn.ru.nl/handle/2066/237908
https://repository.ubn.ru.nl/handle/2066/237908
Autor:
Angela T Morgan, Heather C Mefford, Simon E. Fisher, Lindsay C. Swanson, Ingrid E. Scheffer, Candace T. Myers, Siddharth Srivastava, Cristina Mei, Deepak Gill, Himanshu Goel, David J. Amor, Ruth O Braden
Publikováno v:
Developmental Medicine & Child Neurology
Developmental Medicine & Child Neurology, 63, 1417-1426
Developmental Medicine & Child Neurology, 63, 12, pp. 1417-1426
Developmental Medicine & Child Neurology, 63, 1417-1426
Developmental Medicine & Child Neurology, 63, 12, pp. 1417-1426
AIM To delineate the speech and language phenotype of a cohort of individuals with FOXP1-related disorder. METHOD We administered a standardized test battery to examine speech and oral motor function, receptive and expressive language, non-verbal cog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48e3b198174b7daab5dfd83841c9680a
https://doi.org/10.1111/dmcn.14955
https://doi.org/10.1111/dmcn.14955
We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polymicrogyria (BPP), and examine the correlation between the topography of polymicrogyria and the severity of speech, language, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e593145f58fdeb5c92b8b79901d18f00
https://doi.org/10.1111/dmcn.14153
https://doi.org/10.1111/dmcn.14153
Autor:
Ingrid E. Scheffer, Jennifer L. Johnson, Hyung-Goo Kim, Michael S. Hildebrand, Ping Jun Zhu, Penelope E. Bonnen, Amanda Brignell, Christine Beeton, Victoria E. Jackson, Abhisek Bhattacharya, N. Tony Eissa, Urwah Nawaz, Yuwei Liu, Redwan Huq, Thomas S. Scerri, Loredana Stoica, Melanie Bahlo, Bo T. Porse, Renee Carroll, Jozef Gecz, Matthew Coleman, Usha Kini, Deepti Domingo, Ola Larsson, Anne Baxter, David J. Amor, Lachlan A. Jolly, Shelly A. Buffington, Mauro Costa-Mattioli, Ruth O Braden, Angela T Morgan
Publikováno v:
Johnson, J L, Stoica, L, Liu, Y, Zhu, P J, Bhattacharya, A, Buffington, S, Huq, R, Eissa, N T, Larsson, O, Porse, B T, Domingo, D, Nawaz, U, Carroll, R, Jolly, L, Scerri, T S, Kim, H-G, Brignell, A, Coleman, M J, Braden, R, Kini, U, Jackson, V, Baxter, A, Bahlo, M, Scheffer, I E, Amor, D J, Hildebrand, M S, Bonnen, P E, Beeton, C, Gecz, J, Morgan, A T & Costa-Mattioli, M 2019, ' Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response ', Neuron, vol. 104, no. 4, pp. 665-679 . https://doi.org/10.1016/j.neuron.2019.08.027
Neuron
Neuron
In humans, disruption of nonsense-mediated decay (NMD) has been associated with neurodevelopmental disorders (NDDs) such as autism spectrum disorder and intellectual disability. However, the mechanism by which deficient NMD leads to neurodevelopmenta