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pro vyhledávání: '"A.P.M. de Brouwer"'
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Akademický článek
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Autor:
Charu Deshpande, Joke B. G. M. Verheij, H Van Bokhoven, Siddharth Banka, J. S. Klein Wassink-Ruiter, Elizabeth J. Bhoj, S. C. Huffels, R. Pfundt, Ernie M.H.F. Bongers, Anne Gregor, A.P.M. de Brouwer, André Reis, Christiane Zweier, Hakon Hakonarson, Nicola K. Ragge, L. Gompertz, Dong Li, Sanmati Cuddapah, Alexander P.A. Stegmann, Sally Ann Lynch, A.T. Vulto-van Silfhout, Willie Reardon, Gyri Aasland Gradek, Daniel L. Polla, Kate Chandler, C. T. R. M. Stumpel, B. B. A. de Vries, R. Wennekes, Elaine H. Zackai, Siren Berland, Erika Leenders, K. Hill-Karfe
Publikováno v:
Genetics in Medicine, 23, 4, pp. 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652
Contains fulltext : 234992.pdf (Publisher’s version ) (Closed access) PURPOSE: MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differenti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3096973d0dab91ba75f31747c1525309
https://repository.ubn.ru.nl/handle/2066/234992
https://repository.ubn.ru.nl/handle/2066/234992
Autor:
F. L. Raymond, Timothy D. O’Connor, Daniel L. Polla, Zafar Iqbal, Yang Song, M van de Vorst, H Van Bokhoven, Keren J. Carss, A.P.M. de Brouwer, E. van Beusekom, Saima Riazuddin, Detelina Grozeva, Christian Gilissen, Asma A. Khan, Mohsin Shahzad, Tjitske Kleefstra, K. van Heeswijk, Faiza Rasheed, S. A. Riazuddin, Muhammad Zaman Khan Assir, Zubair M. Ahmed, Joris A. Veltman, Muhammad Asim Raza Basra, Z. Agha, Laura Tomás-Roca, Muhammad Ansar, Willemijn M. Wissink-Lindhout, Muhammad Yasir Zahoor, muhammad zahid rashid, Mureed Hussain, Attia Razzaq, Shahid Niaz Khan, J. Akram
Publikováno v:
Molecular Psychiatry, 22, 11, pp. 1604-1614
Molecular Psychiatry, 22, 1604-1614
Molecular Psychiatry, 22(11), 1604-1614. Nature Publishing Group
Molecular Psychiatry
Mol Psychiatry
Molecular Psychiatry, 22, 1604-1614
Molecular Psychiatry, 22(11), 1604-1614. Nature Publishing Group
Molecular Psychiatry
Mol Psychiatry
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::450b848c5cdee0ed4d403fc263d14eae
https://hdl.handle.net/2066/181527
https://hdl.handle.net/2066/181527
Autor:
R. Pfundt, Caleb Webber, A.P.M. de Brouwer, Han G. Brunner, Janneke H M Schuurs-Hoeijmakers, A.T. van Silfhout, L.B.A. de Vries, B W M van Bon, Jayne Y. Hehir-Kwa, I.J. Thoonen, Stephen Meader, N. de Leeuw, C.J. Hellebrekers
Publikováno v:
Human Mutation; Vol 34
Human Mutation, 34, 12, pp. 1679-87
Human Mutation, 34, 1679-87
Human Mutation, 34, 12, pp. 1679-87
Human Mutation, 34, 1679-87
Contains fulltext : 125546.pdf (Publisher’s version ) (Open Access) Copy-number variations (CNVs) are a common cause of intellectual disability and/or multiple congenital anomalies (ID/MCA). However, the clinical interpretation of CNVs remains chal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33e1b54fd2736dd380f97bd6789f1a3
Autor:
Bernhard Schmitt, Markus Zweier, Masaki Matsushita, Christiane Zweier, B. B. A. De Vries, Melissa Alfonsi, Satz Mengensatzproduktion, Chiara Palka, Silvia Azzarello-Burri, A.T. Vulto-van Silfhout, Sabine Endele, Anita Rauch, Druck Reinhardt Druck Basel, P. Guanciali Franchi, Ina Schanze, F. Chiarelli, Hiroshi Kitoh, F. Rodríguez-González, N. de Leeuw, Tatsuya Hattori, Hiroki Kaneko, Giuseppe Calabrese, D. Wolff, A.P.M. de Brouwer, C.C. Obihara, Yasutomo Itoh, Kenichi Mishima, Juliane Hoyer, H.G. Brunner, André Reis, Naoki Ishiguro, E. Martínez-Quintana, Angelika Mohn
Publikováno v:
Molecular Syndromology. 2:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2abbe40b43c79a16e3224e8a8671c493
https://doi.org/10.1159/000338522
https://doi.org/10.1159/000338522
Autor:
A.P.M. de Brouwer, Edwin P. Kirk, D L Bruno, J.H.L.M. van Bokhoven, John Nelson, M. van Kogelenberg, George McGillivray, K. Macdermot, Richard J. Leventer, Joris A. Veltman, R. J McKinlay Gardner, L. Nagarajan, Stephen P. Robertson, Sondhya Ghedia
Publikováno v:
Molecular Syndromology, 1, 1, pp. 35-41
Molecular Syndromology, 1, 35-41
Molecular Syndromology, 1, 35-41
Contains fulltext : 89801.pdf (Publisher’s version ) (Closed access) Periventricular heterotopia (PH) is a brain malformation characterised by heterotopic nodules of neurons lining the walls of the cerebral ventricles. Mutations in FLNA account for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f88cd12d3213c0051f89d08285c65f52
https://doi.org/10.1159/000274491
https://doi.org/10.1159/000274491
Akademický článek
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Akademický článek
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Autor:
Thierry Bienvenu, Jamel Chelly, A.P.M. de Brouwer, Brigitte Gilbert-Dussardier, Didier Lacombe, H.H. Ropers, Cherif Beldjord, Martine Raynaud, J. P. Fryns, Karine Poirier, Claude Moraine, V. Desportes
Publikováno v:
Neurogenetics, 7, 39-46
Neurogenetics, 7, 1, pp. 39-46
Neurogenetics, 7, 1, pp. 39-46
Contains fulltext : 50180.pdf (Publisher’s version ) (Closed access) Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d00fa286abfba17351b1f5f138067c0f
https://doi.org/10.1007/s10048-005-0014-0
https://doi.org/10.1007/s10048-005-0014-0