Zobrazeno 1 - 10
of 992
pro vyhledávání: '"A.-M. de Brouwer"'
Autor:
Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K. Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P. M. de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K. Grange, Marjolaine Willems, Michael C. Kruer, Jaewon Ko, Amélie Piton, Ji Won Um
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
The protein SLITRK2 plays an important role in synaptic communication. This study identifies X-linked SLITRK2 variants that underlie neurodevelopmental disorders by impairing excitatory synapses.
Externí odkaz:
https://doaj.org/article/939b1e803648458f978aa0c525329996
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-17 (2021)
Abstract Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic heterogeneity, as well as the difficulty in the establis
Externí odkaz:
https://doaj.org/article/0a4d4fd750a641f78178fc03356d28d2
Autor:
Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan P. M. de Brouwer, Paula Jorge
Publikováno v:
Clinical Case Reports, Vol 8, Iss 12, Pp 2476-2482 (2020)
Abstract In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our
Externí odkaz:
https://doaj.org/article/f75c94edd07a4f6a98db04deb6d7e5fe
Autor:
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer
Publikováno v:
American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143
Genotype; Intellectual disability; Phenotype Genotipo; Discapacidad intelectual; Fenotipo Genotip; Discapacitat intel·lectual; Fenotip We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e786f2ecd8803b730a91f04d46d55226
Autor:
Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Abstract Background The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to m
Externí odkaz:
https://doaj.org/article/9adc7417292e4798a0ee0866d8eaaebd
Autor:
Nienke M S, Golüke, Huiberdina L, Koek, Elles M, Houter, Esther J M, de Brouwer, Jules J, Claus, Salka S, Staekenborg, Mariëlle H, Emmelot-Vonk, Pim A, de Jong, Annemarieke, de Jonghe
Publikováno v:
Alzheimer Disease & Associated Disorders. 36:335-339
The aim of this study is to investigate the association between basal ganglia calcification (BGC) and depressive symptoms within older adults with mild cognitive impairment (MCI) or dementia.For this cross-sectional study, we included patients with M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b03ceceaa1f5e097ba55aac1f90db5c9
https://doi.org/10.1097/wad.0000000000000523
https://doi.org/10.1097/wad.0000000000000523
Akademický článek
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Akademický článek
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Autor:
Pim A. de Jong, Annemarieke de Jonghe, Esther J. M. de Brouwer, Nienke M.S. Golüke, Jules J. Claus, Salka S. Staekenborg, Marielle H. Emmelot-Vonk, Huiberdina L. Koek
Publikováno v:
Journal of Neuroradiology. 49:281-287
BACKGROUND AND AIMS we know little about clinical outcomes of arterial calcifications. This study investigates the risk factors of intracranial artery calcifications and its association with cardiovascular disease and cognitive function. METHODS pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f0a454e59e00ec1e90a5d1e1e09b8e6
https://doi.org/10.1016/j.neurad.2020.08.001
https://doi.org/10.1016/j.neurad.2020.08.001