Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Bitten Schönewolf-Greulich"'
Autor:
Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf-Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic testing i
Externí odkaz:
https://doaj.org/article/96cebae7c62045a88a31471616db7dd4
Autor:
Victoria A. Bjerregaard, Bitten Schönewolf-Greulich, Lene Juel Rasmussen, Claus Desler, Zeynep Tümer
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Background: Gilles de la Tourette syndrome (GTS) is a neurodevelopmental condition characterized by motor and vocal tics. The underlying etiology remains largely unknown, and GTS is considered as a complex multifactorial disorder associated with effe
Externí odkaz:
https://doaj.org/article/615a4a1638da401a81cfa28915ec3c8c
Autor:
Kirstine Ravn, Bitten Schönewolf-Greulich, Rikke M. Hansen, Anna-Helene Bohr, Morten Duno, Flemming Wibrand, Elsebet Ostergaard
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 5-10 (2015)
Disorders caused by defects in the mitochondrial translation system are clinically and genetically heterogeneous. The elongation phase of mitochondrial protein synthesis requires, among many other components, three nuclear-encoded elongation factors:
Externí odkaz:
https://doaj.org/article/9cd2521ff6734ef0bbb8926c6affe40f
Autor:
Anne Katrine Højfeldt, Jane Lunding Larsen, Anne Marie Bisgaard, Bitten Schönewolf-Greulich, Kingsley Wong, Gitte Rønde, Michelle Stahlhut, Jenny Downs
Publikováno v:
American Journal of Medical Genetics Part A. 185:3683-3693
Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care ma
Autor:
Suzanne Lewis, Christina Ringmann Fagerberg, Miroslava Hancarova, Samantha Schilit, Burcu TURKGENC, Juliana Forte Mazzeu, Joana B Melo, Vytautas Kasiulevicius, Algirdas Utkus, Bitten Schönewolf-Greulich
Balanced chromosomal rearrangements (BCRs), including inversions, translocations, and insertions, reorganize large sections of the genome and contribute substantial risk for developmental disorders (DDs). However, the rarity and lack of systematic sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ba7a3206c69828015be12f094676aad
https://doi.org/10.1101/2022.02.15.22270795
https://doi.org/10.1101/2022.02.15.22270795
Autor:
Bitten Schönewolf-Greulich, Helena Gásdal Karstensen, Tina D. Hjortshøj, Finn Stener Jørgensen, Katja M. Harder, Susanne Frevert, Hanne Hove, Birgitte R. Diness
Publikováno v:
Schönewolf-Greulich, B, Karstensen, H G, Hjortshøj, T D, Jørgensen, F S, Harder, K M, Frevert, S, Hove, H & Diness, B R 2022, ' Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth ', European Journal of Medical Genetics, vol. 65, no. 10, 104590 . https://doi.org/10.1016/j.ejmg.2022.104590
Mosaic PIK3R1 variants have recently been demonstrated in patients with complex vascular malformations and overgrowth in a syndrome resembling PIK3CA-related overgrowth syndrome (PROS). The PIK3CA-inhibitor, alpelisib, seems to be a promising treatme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fdd9e559520fcfeae9c0decd711ebbb
https://curis.ku.dk/portal/da/publications/early-diagnosis-enabling-precision-medicine-treatment-in-a-young-boy-with-pik3r1related-overgrowth(c2f110d8-2f98-433a-9812-4100100e48a6).html
https://curis.ku.dk/portal/da/publications/early-diagnosis-enabling-precision-medicine-treatment-in-a-young-boy-with-pik3r1related-overgrowth(c2f110d8-2f98-433a-9812-4100100e48a6).html
Autor:
Kristen J. Verhey, Simranpreet Kaur, Matthew D. Burton, Wendy K. Chung, Zeynep Tümer, Breane G. Budaitis, Nicole J Van Bergen, Bitten Schönewolf-Greulich, Rhea Sonawane, Cameron J. Nowell, Annalaura Torella, Yang Yue, Nicola Brunetti-Pierri, Gerarda Cappuccio, Lia Boyle, John Christodoulou, Tony Roscioli, Mark J. Cowley, Carolyn Ellaway, Wendy A. Gold, Irene Bruno, Sean Massey, Vincenzo Nigro
Publikováno v:
Kaur, S, Van Bergen, N J, Verhey, K J, Nowell, C J, Budaitis, B, Yue, Y, Ellaway, C, Brunetti-Pierri, N, Cappuccio, G, Bruno, I, Boyle, L, Nigro, V, Torella, A, Roscioli, T, Cowley, M J, Massey, S, Sonawane, R, Burton, M D, Schonewolf-Greulich, B, Tümer, Z, Chung, W K, Gold, W A & Christodoulou, J 2020, ' Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A ) ', Human Mutation, vol. 41, no. 10, pp. 1761-1774 . https://doi.org/10.1002/humu.24079
Hum Mutat
Hum Mutat
Defects in the motor domain of kinesin family member 1A (KIF1A), a neuron-specific ATP-dependent anterograde axonal transporter of synaptic cargo, are well-recognized to cause a spectrum of neurological conditions, commonly known as KIF1A-associated
Autor:
Diane Doummar, Ahmed Waqas, Clement Prouteau, Sarah M. Kateta, Davide Mei, Zeynep Tümer, Tobias B. Haack, Muhammad Umair, Boris Keren, Renzo Guerrini, Felix Boschann, Alban Ziegler, Alexandra Afenjar, Rikke S. Møller, Bitten Schönewolf-Greulich, Ludmilla A. Livshits, Miriam Nøstvik, Joohyun Park, Tiziana Pisano, Magalie Barth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::597b39d8ae8f98556ef5390e323d8940
https://doi.org/10.1111/cge.14051/v2/response1
https://doi.org/10.1111/cge.14051/v2/response1
Autor:
Sophie Bayley, Diana Le Duc, Richard Rosch, Matthew R.G. Taylor, Jens Erik Klint Nielsen, Joanna Kennedy, Stephanie Oates, Charlotte Brasch-Andersen, Lina Quteineh, Katrina M. Allis, Bitten Schönewolf-Greulich, Deb K. Pal, Jennifer Baulcomb, Karen Low, Michael Absoud, Georgia Vasileiou, Christian Korff, T. Michael Yates, M. Albert Basson, Rikke S. Møller, Pernille Mathiesen Tørring, Christiane Zweier, Meena Balasubramanian, Sushma Goyal, Maximilian Radtke, Bernt Popp, Amy Riddett, Gitte Rønde, Bert Callewaert, Zeynep Tümer, Emily Todd, Ulrike Hüffmeier, Amelle Shillington, Renkui Bai, Annemarie Sims
Publikováno v:
Oates, S, Absoud, M, Goyal, S, Bayley, S, Baulcomb, J, Sims, A, Riddett, A, Allis, K, Brasch-Andersen, C, Balasubramanian, M, Bai, R, Callewaert, B, Hüffmeier, U, Le Duc, D, Radtke, M, Korff, C, Kennedy, J, Low, K, Møller, R S, Nielsen, J E K, Popp, B, Quteineh, L, Rønde, G, Schönewolf-Greulich, B, Shillington, A, Taylor, M R G, Todd, E, Torring, P M, DMSc, Z T M D P D, Vasileiou, G, Yates, T M, Zweier, C, Rosch, R, Basson, M A & Pal, D K 2021, ' ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder ', Clinical Genetics, vol. 100, no. 4, pp. 412-429 . https://doi.org/10.1111/cge.14023
ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 in
Autor:
null Stephanie Oates, null Michael Absoud, null Sushma Goyal, null Sophie Bayley, null Jennifer Baulcomb, null Annemarie Sims, null Amy Riddett, null Katrina Allis, null Charlotte Brasch Andersen, null Meena Balasubramanian, null Renkui Bai, null Bert Callewaert, null Ulrike Hüffmeier, null Diana LeDuc, null Maximilian Radtke, null Christian Korff, null Joanna Kennedy, null Karen Low, null Rikke Møller, null Jens Erik Klint Nielsen, null Bernt Popp, null Lina Quteineh, null Gitte Rønde, null Bitten Schönewolf‐Greulich, null Amelle Shillington, null Matthew R. G. Taylor, null Emily Todd, null Pernille M. Toerring, null Zeynep Tümer, null Georgia Vasileiou, null T. Michael Yates, null Christiane Zweier, null Richard Rosch, null M. Albert Basson, null Deb K. Pal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c251d74ff878d534910555523bb1ddf6
https://doi.org/10.1111/cge.14023/v3/response1
https://doi.org/10.1111/cge.14023/v3/response1