Výsledky vyhledávání - "Nienke E, Verbeek"

Akademický článek

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

Publikováno v: Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)

Abstract Objective The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation. Methods We collected data on patients with ANKRD11

Externí odkaz: https://doaj.org/article/aed334dc863943859f018af92b96be34

Zobrazit plný text záznamu

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Autor: Zaid Afawi, Shekeeb S. Mohammad, Geoffrey Wallace, Ayelet Zerem, Amy L Schneider, Kyra E. Stuurman, Deepak Gill, Alison M. Muir, Russell C. Dale, Gali Heimer, Martino Montomoli, Elena Gardella, Emmanuelle Ranza, Simone Mandelstam, Peter Procopis, Øyvind L. Busk, Christian Korff, Arjan Bouman, Boudewijn Gunning, Connie T.R.M. Stumpel, Yunus Balcik, Christa de Geus, Philipp S. Reif, Yue-Hua Zhang, Sameer M. Zuberi, Volodymyr Kharytonov, Sébastien Küry, Patrick Edery, Sebastien Moutton, Trine Bjørg Hammer, Hannah Stamberger, Joseph D. Symonds, Gaetan Lesca, Samuel F. Berkovic, Massimiliano Rossi, Danique R.M. Vlaskamp, Eric W. Klee, Mark T Mackay, Felix Rosenow, Erica L. Macke, Chirag Patel, Jacob Bie Granild-Jensen, Helenius J. Schelhaas, Danielle M. Andrade, Lynette G. Sadleir, Iris M de Lange, Roseline Caumes, Eva Morava, Frédéric Tran Mau-Them, Anita Cairns, Keren Yosovich, Jing Zhang, Bruria Ben Zeev, Nicolas Chatron, Dorit Lev, Laura Reed, Pauline Monin, Eva H. Brilstra, Birgitte Bertelsen, Georgie Hollingsworth, Nienke E. Verbeek, Heather C Mefford, Rikke S. Møller, Johan R. Helle, Christina Fenger, Meriel McEntagart, Thomas Smol, Mark F. Bennett, Yuri A. Zarate, Renzo Guerrini, Elena Parrini, Candace T. Myers, Judith S. Verhoeven, Bertrand Isidor, Ruth Shalev, David A. Koolen, Ingrid E. Scheffer, Bobby P. C. Koeleman, Lauren Gunderson, Michael S. Hildebrand, Tara Sadoway, Richard J. Leventer, Sanjay M. Sisodiya, Krati Shah, Edith P. Almanza Fuerte

Publikováno v: Genetics in Medicine, 23(2), 363-373. Nature Publishing Group
Genetics in Medicine, 23, 2, pp. 363-373
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y-H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in Medicine, 23(2), 363-373. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 363-373

Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access) PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae8c8c6faa9e2b5a65e17855559602f1
https://doi.org/10.1038/s41436-020-00988-9

Zobrazit plný text záznamu

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Publikováno v: American Journal of Human Genetics, 104, 4, pp. 758-766
American Journal of Human Genetics, 104, 758-766
American Journal of Human Genetics, 104(4), 758-766. CELL PRESS
American journal of human genetics, 104(4), 758-766. Cell Press
Am. J. Hum. Genet. 104, 758-766 (2019)
American Journal of Human Genetics, 104(4), 758-766. Cell Press
Diets, I J, van der Donk, R, Baltrunaite, K, Waanders, E, Reijnders, M R F, Dingemans, A J M, Pfundt, R, Vulto-van Silfhout, A T, Wiel, L, Gilissen, C, Thevenon, J, Perrin, L, Afenjar, A, Nava, C, Keren, B, Bartz, S, Peri, B, Beunders, G, Verbeek, N, van Gassen, K, Thiffault, I, Cadieux-Dion, M, Huerta-Saenz, L, Wagner, M, Konstantopoulou, V, Vodopiutz, J, Griese, M, Boel, A, Callewaert, B, Brunner, H G, Kleefstra, T, Hoogerbrugge, N, de Vries, B B A, Hwa, V, Dauber, A, Hehir-Kwa, J Y, Kuiper, R P & Jongmans, M C J 2019, ' De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism ', American journal of human genetics, vol. 104, no. 4, pp. 758-766 . https://doi.org/10.1016/j.ajhg.2019.02.023

Contains fulltext : 202646.pdf (Publisher’s version ) (Open Access) By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::263a969f4f6e1830ee4e43cc9ad05e3b
https://doi.org/10.1016/j.ajhg.2019.02.023

Zobrazit plný text záznamu

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

Autor: Michelle de Groot, Bart P.C. van de Warrenburg, Helger G. Yntema, Maartje Pennings, Erik-Jan Kamsteeg, Jordi Corominas, Nienke E. Verbeek, Lisenka E.L.M. Vissers, Bart van der Sanden, Rowdy Meijer, Meyke Schouten, Christian Gilissen

Publikováno v: Genetics in Medicine, 23, 1569-1573
Genetics in Medicine, 23, 8, pp. 1569-1573
Genetics in Medicine

PurposeThe expansion of specific short tandem repeats (STRs) can lead to approximately 30 different human genetic disorders. Despite extensive application of exome sequencing (ES) in routine diagnostic genetic testing, STRs are not routinely identifi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4fcee3623c72dffa0933264dce2a7c
http://hdl.handle.net/2066/237911

Zobrazit plný text záznamu

Akademický článek

Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.

Autor: Nienke E Verbeek, Nicoline A T van der Maas, Floor E Jansen, Marjan J A van Kempen, Dick Lindhout, Eva H Brilstra

Publikováno v: PLoS ONE, Vol 8, Iss 6, p e65758 (2013)

OBJECTIVES: To determine the prevalence of Dravet syndrome, an epileptic encephalopathy caused by SCN1A-mutations, often with seizure onset after vaccination, among infants reported with seizures following vaccination. To determine differences in cha

Externí odkaz: https://doaj.org/article/14f2bd90feec41f79dcf92811e02b9bb

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání