Zobrazeno 1 - 10
of 128
pro vyhledávání: '"K. Vanhoutte"'
Autor:
Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.
Externí odkaz:
https://doaj.org/article/bbc1baaa0cad458284efc798bb89f556
Autor:
Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically unsolved. This prevents adequate counseling and clear recommendations in these families. W
Externí odkaz:
https://doaj.org/article/4c768b28545c4e9c80d7adf8d44f46ec
Autor:
Sophie L. V. M. Stroeks, Debby Hellebrekers, Godelieve R. F. Claes, Ingrid P. C. Krapels, Michiel H. T. M. Henkens, Maurits Sikking, Els K. Vanhoutte, Apollonia Helderman-van den Enden, Han G. Brunner, Arthur van den Wijngaard, Job A. J. Verdonschot
Publikováno v:
European Journal of Human Genetics.
It was previously suggested that increasing the number of genes on diagnostic gene panels could increase the genetic yield in patient with dilated cardiomyopathy (DCM). We explored the diagnostic and prognostic relevance of testing DCM patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7540c0d6d751132354f4c9fc0b02b8c9
https://doi.org/10.1038/s41431-023-01384-y
https://doi.org/10.1038/s41431-023-01384-y
Autor:
Fatemeh Ghorbani, Jelkje de Boer-Bergsma, Corien C. Verschuuren-Bemelmans, Maartje Pennings, Eddy N. de Boer, Berry Kremer, Els K. Vanhoutte, Jeroen J. de Vries, Raymond van de Berg, Erik-Jan Kamsteeg, Cleo C. van Diemen, Helga Westers, Bart P. van de Warrenburg, Dineke S. Verbeek
Publikováno v:
Journal of Neurology, 269, 11, pp. 6086-6093
Journal of Neurology, 269(11), 6086-6093. Springer
Journal of Neurology, 269, 6086-6093
Journal of Neurology, 269. SPRINGER HEIDELBERG
Journal of Neurology, 269(11), 6086-6093. Springer
Journal of Neurology, 269, 6086-6093
Journal of Neurology, 269. SPRINGER HEIDELBERG
Recently, an intronic biallelic (AAGGG)n repeat expansion in RFC1 was shown to be a cause of CANVAS and adult-onset ataxia in multiple populations. As the prevalence of the RFC1 repeat expansion in Dutch cases was unknown, we retrospectively tested 9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb2b2d8a088911455915fbe776cc272
https://hdl.handle.net/2066/287463
https://hdl.handle.net/2066/287463
Autor:
Sophie L.V.M. Stroeks, Ida G. Lunde, Debby M.E.I. Hellebrekers, Godelieve R.F. Claes, Hiroko Wakimoto, Joshua Gorham, Ingrid P.C. Krapels, Els K. Vanhoutte, Arthur van den Wijngaard, Michiel T.H.M. Henkens, Anne G. Raafs, Maurits A. Sikking, Jos L.V. Broers, Miranda Nabben, Elizabeth A.V. Jones, Stephane R.B. Heymans, Han G. Brunner, Job A.J. Verdonschot
Publikováno v:
Circulation. Genomic and Precision Medicine, 16, 2
Circulation. Genomic and Precision Medicine, 16
Circulation. Genomic and Precision Medicine, 16
Background: Dilated cardiomyopathy (DCM) was considered a monogenetic disease that can be caused by over 60 genes. Evidence suggests that the combination of multiple pathogenic variants leads to greater disease severity and earlier onset. So far, not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb94c3a2c1bb818301f92ecf7b5f346f
https://doi.org/10.1161/CIRCGEN.122.003788
https://doi.org/10.1161/CIRCGEN.122.003788
Autor:
S L V M Stroeks, J A J Verdonschot, I G Lunde, M T H M Henkens, M Willemars, F Schianchi, J F P Luiken, P Wang, K Derks, I P C Krapels, E K Vanhoutte, E A V Jones, H G Brunner, M Nabben, S R B Heymans
Publikováno v:
European Heart Journal. 43
Background/Objectives Titin truncating variants (TTNtv) are the most prevalent genetic cause of dilated cardiomyopathy (DCM), resulting in upregulation of cardiac transcripts of oxidative phosphorylation (1,2). However, the underlying molecular mecha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c943dff3c44f936cd23715434780ef4c
https://doi.org/10.1093/eurheartj/ehac544.758
https://doi.org/10.1093/eurheartj/ehac544.758
Akademický článek
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Autor:
Michiel T H M Henkens, Upasana Tayal, Godelieve R.F. Claes, Arthur van den Wijngaard, Debby M.E.I. Hellebrekers, Sophie L.V.M. Stroeks, Els K. Vanhoutte, Job A J Verdonschot, Han G. Brunner, Ingrid P.C. Krapels, Stephane Heymans, James S. Ware
Publikováno v:
Genetics in Medicine, 23, 11, pp. 2186-2193
Genetics in Medicine, 23(11), 2186-2193. Nature Publishing Group
Genetics in Medicine, 23, 2186-2193
Genetics in Medicine, 23(11), 2186-2193. Nature Publishing Group
Genetics in Medicine, 23, 2186-2193
PURPOSE: Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for patient care but has proven challenging. We applied a set of proposed refined American College of Medical Genetics and Genomics/Association for Molec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36c8cbd3f8c841a3e5846b111af40a59
https://hdl.handle.net/2066/243935
https://hdl.handle.net/2066/243935
Autor:
Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P.A. Stegmann, Els K. Vanhoutte, Job A.J Verdonshot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G.M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne
Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment of genes invol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e21c3ec05e6add7614b086357f2451f
https://doi.org/10.1101/2022.02.16.22270779
https://doi.org/10.1101/2022.02.16.22270779
Autor:
Els K. Vanhoutte
Peripheral Neuropathy outcome measure Standardization (PeriNomS) studies the outcome measures for nerve conditions (polyneuropathy). Objective results require an objective measure (outcome). This method can be used to determine how a patient feels an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be6f494e97ed36cb3bbd547eba8296ee
https://doi.org/10.26481/dis.20150313ev
https://doi.org/10.26481/dis.20150313ev