Zobrazeno 1 - 10
of 69
pro vyhledávání: '"A. S. Plomp"'
Autor:
R. Koster, R. D. Brandão, D. Tserpelis, C. E. P. van Roozendaal, C. N. van Oosterhoud, K. B. M. Claes, A. D. C. Paulussen, M. Sinnema, M. Vreeburg, V. van der Schoot, C. T. R. M. Stumpel, M. P. G. Broen, L. Spruijt, M. C. J. Jongmans, S. A. J. Lesnik Oberstein, A. S. Plomp, M. Misra-Isrie, F. A. Duijkers, M. J. Louwers, R. Szklarczyk, K. W. J. Derks, H. G. Brunner, A. van den Wijngaard, M. van Geel, M. J. Blok
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico splicing
Externí odkaz:
https://doaj.org/article/982c0d93ba4e444ea8df66af21437691
Autor:
Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J.F. Boon
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 34, Iss , Pp 102070- (2024)
Purpose: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. Observations: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairm
Externí odkaz:
https://doaj.org/article/4d4355855735408fb4dd3f53ccb8e417
Autor:
Xuan-Thanh-An Nguyen, Lude Moekotte, Astrid S. Plomp, Arthur A. Bergen, Maria M. van Genderen, Camiel J. F. Boon
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 8, p 7481 (2023)
Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors. As a result of photoreceptor degeneration, affected individuals
Externí odkaz:
https://doaj.org/article/3c202c0264d3402cad9de3a43252f384
Autor:
Carline E. Tacke, Suzanne W.J. Terheggen-Lagro, Annemieke M. Boot, Astrid S. Plomp, Abeltje M. Polstra, Rick R. van Rijn, Peter A.A. Struijs, Henk van den Berg, Christiaan F. Mooij
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 101067- (2021)
Parathyroid hormone-like hormone (PTHLH) plays an important role in bone formation. Several skeletal dysplasias have been described that are associated with disruption of PTHLH functioning. Here we report on a new patient with a 898 Kb duplication on
Externí odkaz:
https://doaj.org/article/3749f311958f467e93bc691352c406e1
Autor:
Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 12, p 6419 (2021)
A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing. These cases lack eligibility
Externí odkaz:
https://doaj.org/article/55f2f711bc9c42209bd42a3775f1dbcb
Autor:
Xuan-Thanh-An Nguyen, Lude Moekotte, Astrid S. Plomp, Arthur A. Bergen, Maria M. van Genderen, Camiel J. F. Boon
Publikováno v:
Nguyen, X-T-A, Moekotte, L, Plomp, A S, Bergen, A A, van Genderen, M M & Boon, C J F 2023, ' Retinitis Pigmentosa : Current Clinical Management and Emerging Therapies ', International Journal of Molecular Sciences, vol. 24, no. 8, 7481 . https://doi.org/10.3390/ijms24087481
Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors. As a result of photoreceptor degeneration, affected individuals
Autor:
Yousra El Ghaleb, Monica L. Fernandez-Quintero, Marta Campiglio, Klaus R. Liedl, Astrid S. Plomp, Dewi P. Bakker, Mahdi M. Motazacker, Fanny Kortüm, Anne-Sophie Höing, Kerstin Kutsche, Bernhard E. Flucher
Publikováno v:
Biophysical Journal, 122(3S1). Biophysical Society
el Ghaleb, Y, Fernandez-Quintero, M L, Campiglio, M, Liedl, K R, Plomp, A S, Bakker, D P, Motazacker, M M, Kortüm, F, Höing, A-S, Kutsche, K & Flucher, B E 2023, ' Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties ', Biophysical Journal, vol. 122, no. 3S1, pp. 107a . https://doi.org/10.1016/j.bpj.2022.11.763
Biophysical journal, 122(3S1). Biophysical Society
el Ghaleb, Y, Fernandez-Quintero, M L, Campiglio, M, Liedl, K R, Plomp, A S, Bakker, D P, Motazacker, M M, Kortüm, F, Höing, A-S, Kutsche, K & Flucher, B E 2023, ' Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties ', Biophysical Journal, vol. 122, no. 3S1, pp. 107a . https://doi.org/10.1016/j.bpj.2022.11.763
Biophysical journal, 122(3S1). Biophysical Society
Autor:
Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie R. Pallares, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W. E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella M. Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce B. Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Delphine Heron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman‐Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic
Publikováno v:
Human Mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Human Mutation: Variation, Informatics and Disease, 43(11), 1609-1628. WILEY
Human mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446
Human Mutation: Variation, Informatics and Disease, 43(11), 1609-1628. WILEY
Human mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive and specific biomarkers that have recently been applied in cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa933745b4435f831f0ab98620d9364
https://research.vumc.nl/en/publications/13d0dd51-76a9-4868-ac6b-44bb728ad6bf
https://research.vumc.nl/en/publications/13d0dd51-76a9-4868-ac6b-44bb728ad6bf
Autor:
Sylvia A. Huisman, Fanny Mochel, Christel Depienne, Roberto Canitano, Sara S. Cathey, Kimberly Nugent, Konrad Platzer, Katherine L. Helbig, Deepali N. Shinde, Diego Lopergolo, Sandra Yang, Francesca Mari, Astrid S. Plomp, Berten Ceulemans, Sarah Weckhuysen, Agnès Rastetter, Nadja Ehmke, Julien Thevenon, Rami Abou Jamra, Elisa Benetti, Daniela del Gaudio, Elizabeth Roeder, Darrel Waggoner, Raymond J. Louie, Shawn Kacker, Manuel Holtgrewe, Alessandra Renieri, Susanne B. Kamphausen, Denise Horn, Ange Line Bruel, Carine Dalle, Quinten Waisfisz, Frank J. Kaiser, Golder N. Wilson
Publikováno v:
Brain, 143(12), 3564-3573
Brain, 143(12), 3564-3573. Oxford University Press
Mochel, F, Rastetter, A, Ceulemans, B, Platzer, K, Yang, S, Shinde, D N, Helbig, K L, Lopergolo, D, Mari, F, Renieri, A, Benetti, E, Canitano, R, Waisfisz, Q, Plomp, A S, Huisman, S A, Wilson, G N, Cathey, S S, Louie, R J, Del Gaudio, D, Waggoner, D, Kacker, S, Nugent, K M, Roeder, E R, Bruel, A L, Thevenon, J, Ehmke, N, Horn, D, Holtgrewe, M, Kaiser, F J, Kamphausen, S B, Abou Jamra, R, Weckhuysen, S, Dalle, C & Depienne, C 2020, ' Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders ', Brain, vol. 143, no. 12, pp. 3564-3573 . https://doi.org/10.1093/brain/awaa346
Brain, 143(12), 3564-3573. Oxford University Press
Mochel, F, Rastetter, A, Ceulemans, B, Platzer, K, Yang, S, Shinde, D N, Helbig, K L, Lopergolo, D, Mari, F, Renieri, A, Benetti, E, Canitano, R, Waisfisz, Q, Plomp, A S, Huisman, S A, Wilson, G N, Cathey, S S, Louie, R J, Del Gaudio, D, Waggoner, D, Kacker, S, Nugent, K M, Roeder, E R, Bruel, A L, Thevenon, J, Ehmke, N, Horn, D, Holtgrewe, M, Kaiser, F J, Kamphausen, S B, Abou Jamra, R, Weckhuysen, S, Dalle, C & Depienne, C 2020, ' Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders ', Brain, vol. 143, no. 12, pp. 3564-3573 . https://doi.org/10.1093/brain/awaa346
KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor and memory deficits, but human disorders related to KCNN2 variants are l
Autor:
Suzanne E. de Bruijn, Kim Rodenburg, Jordi Corominas, Tamar Ben-Yosef, Janine Reurink, Hannie Kremer, Laura Whelan, Astrid S. Plomp, Wolfgang Berger, G. Jane Farrar, Árpád Ferenc Kovács, Isabelle Fajardy, Rebekkah J. Hitti-Malin, Nicole Weisschuh, Marianna E. Weener, Dror Sharon, Ronald J.E. Pennings, Lonneke Haer-Wigman, Carel B. Hoyng, Marcel R. Nelen, Lisenka E.L.M. Vissers, L. Ingeborgh van den Born, Christian Gilissen, Frans P.M. Cremers, Alexander Hoischen, Kornelia Neveling, Susanne Roosing
Publikováno v:
Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 3
Genetics in Medicine. Lippincott Williams and Wilkins
de Bruijn, S E, Rodenburg, K, Corominas, J, Ben-Yosef, T, Reurink, J, Kremer, H, Whelan, L, Plomp, A S, Berger, W, Farrar, G J, Ferenc Kovács, Á, Fajardy, I, Hitti-Malin, R J, Weisschuh, N, Weener, M E, Sharon, D, Pennings, R J E, Haer-Wigman, L, Hoyng, C B, Nelen, M R, Vissers, L E L M, van den Born, L I, Gilissen, C, Cremers, F P M, Hoischen, A, Neveling, K & Roosing, S 2022, ' Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes ', Genetics in Medicine . https://doi.org/10.1016/j.gim.2022.11.013
Genetics in Medicine, 25
Genetics in Medicine, 25 (3)
Genetics in Medicine, 25, 3
Genetics in Medicine. Lippincott Williams and Wilkins
de Bruijn, S E, Rodenburg, K, Corominas, J, Ben-Yosef, T, Reurink, J, Kremer, H, Whelan, L, Plomp, A S, Berger, W, Farrar, G J, Ferenc Kovács, Á, Fajardy, I, Hitti-Malin, R J, Weisschuh, N, Weener, M E, Sharon, D, Pennings, R J E, Haer-Wigman, L, Hoyng, C B, Nelen, M R, Vissers, L E L M, van den Born, L I, Gilissen, C, Cremers, F P M, Hoischen, A, Neveling, K & Roosing, S 2022, ' Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes ', Genetics in Medicine . https://doi.org/10.1016/j.gim.2022.11.013
Genetics in Medicine, 25
Genetics in Medicine, 25 (3)
Purpose: Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon the availability of genome sequencing, it is expected that involvement of SVs in IRDs is hig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2799d9614b7c6535f6ff4084263d2eb2
https://pure.amc.nl/en/publications/optical-genome-mapping-and-revisiting-shortread-genome-sequencing-data-reveal-previously-overlooked-structural-variants-disrupting-retinal-diseaseassociated-genes(b2b88fa0-a4a9-41a9-b28f-bcd99c6a5e7e).html
https://pure.amc.nl/en/publications/optical-genome-mapping-and-revisiting-shortread-genome-sequencing-data-reveal-previously-overlooked-structural-variants-disrupting-retinal-diseaseassociated-genes(b2b88fa0-a4a9-41a9-b28f-bcd99c6a5e7e).html