Search Results - "Vanhoutte, Els"

Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy by Faber, Catharina G., Hoeijmakers, Janneke G. J., Ahn, Hye-Sook, Cheng, Xiaoyang, Han, Chongyang, Choi, Jin-Sung, Estacion, Mark, Lauria, Giuseppe, Vanhoutte, Els K., Gerrits, Monique M., Dib-Hajj, Sulayman, Drenth, Joost P. H., Waxman, Stephen G., Merkies, Ingemar S. J.

“…Objective: Small nerve fiber neuropathy (SFN) often occurs without apparent cause, but no systematic genetic studies have been performed in patients with…”
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X by Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander P. A., Vanhoutte, Els K., Verdonschot, Job A. J., Kaiser, Frank J., Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna G. M., Argilli, Emanuela, Sherr, Elliott H., Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M., Horsthemke, Bernhard, Piton, Amélie, Depienne, Christel

“…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…”
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196th ENMC international workshop: Outcome measures in inflammatory peripheral neuropathies 8–10 February 2013, Naarden, The Netherlands by Vanhoutte, Els K, Faber, Catharina G, Merkies, Ingemar S.J

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Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia by Ghorbani, Fatemeh, de Boer-Bergsma, Jelkje, Verschuuren-Bemelmans, Corien C., Pennings, Maartje, de Boer, Eddy N., Kremer, Berry, Vanhoutte, Els K., de Vries, Jeroen J., van de Berg, Raymond, Kamsteeg, Erik-Jan, van Diemen, Cleo C., Westers, Helga, van de Warrenburg, Bart P., Verbeek, Dineke S.

“…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…”
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Implications of Genetic Testing in Dilated Cardiomyopathy by Verdonschot, Job A.J., Hazebroek, Mark R., Krapels, Ingrid P.C., Henkens, Michiel T.H.M., Raafs, Anne, Wang, Ping, Merken, Jort J., Claes, Godelieve R.F., Vanhoutte, Els K., van den Wijngaard, Arthur, Heymans, Stephane R.B., Brunner, Han G.

“…Genetic analysis is a first-tier test in dilated cardiomyopathy (DCM). Electrical phenotypes are common in genetic DCM, but their exact contribution to the…”
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Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy by Stroeks, Sophie L. V. M., Hellebrekers, Debby M. E. I., Claes, Godelieve R. F., Tayal, Upasana, Krapels, Ingrid P. C., Vanhoutte, Els K., van den Wijngaard, Arthur, Henkens, Michiel T. H. M., Ware, James S., Heymans, Stephane R. B., Brunner, Han G., Verdonschot, Job A. J.

“…Purpose Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for patient care but has proven challenging. We applied a set…”
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Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy by Stroeks, Sophie L V M, Hellebrekers, Debby, Claes, Godelieve R F, Krapels, Ingrid P C, Henkens, Michiel H T M, Sikking, Maurits, Vanhoutte, Els K, Helderman-van den Enden, Apollonia, Brunner, Han G, van den Wijngaard, Arthur, Verdonschot, Job A J

“…It was previously suggested that increasing the number of genes on diagnostic gene panels could increase the genetic yield in patient with dilated…”
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Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy by Verdonschot, Job A.J., Wang, Ping, Van Bilsen, Marc, Hazebroek, Mark R., Merken, Jort J., Vanhoutte, Els K., Henkens, Michiel T.H.M., Van Den Wijngaard, Arthur, Glatz, Jan F.C., Krapels, Ingrid P.C., Brunner, Han G., Heymans, Stephane R.B., Bierau, Jörgen

“…Metabolomic profiling may have diagnostic and prognostic value in heart failure. This study investigated whether targeted blood and urine metabolomics reflects…”
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Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated Disease by Stroeks, Sophie L V M, Henkens, Michiel T H M, Dominguez, Fernando, Merlo, Marco, Hellebrekers, Debby M E I, Gonzalez-Lopez, Esther, Dal Ferro, Matteo, Ochoa, Juan Pablo, Venturelli, Francesco, Claes, Godelieve R F, Venner, Max F G H M, Krapels, Ingrid P C, Vanhoutte, Els K, van Paassen, Pieter, van den Wijngaard, Arthur, Sikking, Maurits A, van Leeuwen, Rick, Abdul Hamid, Myrurgia, Li, Xiaofei, Brunner, Han G, Sinagra, Gianfranco, Garcia-Pavia, Pablo, Heymans, Stephane R B, Verdonschot, Job A J

“…Systemic immune-mediated diseases (SIDs) are a well-known cause of dilated cardiomyopathy (DCM), a cardiac phenotype influenced by genetic predispositions and…”
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Revised normative values for grip strength with the Jamar dynamometer by Peters, Martine J. H., van Nes, Sonja I., Vanhoutte, Els K., Bakkers, Mayienne, van Doorn, Pieter A., Merkies, Ingemar S. J., Faber, Catharina G.

“…The Jamar dynamometer has been widely used in various chronic illnesses and has demonstrated its strength as a potential prognostic indicator. Various…”
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De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability by Wijnen, Iris G M, Veenstra-Knol, Hermine E, Vansenne, Fleur, Gerkes, Erica H, de Koning, Tom, Vos, Yvonne J, Tijssen, Marina A J, Sival, Deborah, Darin, Niklas, Vanhoutte, Els K, Oosterloo, Mayke, Pennings, Maartje, van de Warrenburg, Bart P, Kamsteeg, Erik-Jan

“…Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability…”
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Rasch-ionale for neurologists by Vanhoutte, Els K., Hermans, Mieke C. E., Faber, Catharina G., Gorson, Kenneth C., Merkies, Ingemar S. J., Thonnard, Jean-L.

“…Outcome measures are considered the most important tools to monitor patients' outcome in both clinical and research settings. Measuring the clinical state of…”
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Optimizing temperature threshold testing in small-fiber neuropathy by Bakkers, Mayienne, Faber, Catharina G., Reulen, Jos P.H., Hoeijmakers, Janneke G.J., Vanhoutte, Els K., Merkies, Ingemar S.J.

“…ABSTRACT Introduction: We examined optimization of a temperature threshold testing (TTT) protocol for patients with suspected small‐fiber neuropathy (SFN) to…”
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Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy by Stroeks, Sophie L.V.M., Lunde, Ida G., Hellebrekers, Debby M.E.I., Claes, Godelieve R.F., Wakimoto, Hiroko, Gorham, Joshua, Krapels, Ingrid P.C., Vanhoutte, Els K., van den Wijngaard, Arthur, Henkens, Michiel T.H.M., Raafs, Anne G., Sikking, Maurits A., Broers, Jos L.V., Nabben, Miranda, Jones, Elizabeth A.V., Heymans, Stephane R.B., Brunner, Han G., Verdonschot, Job A.J.

“…Dilated cardiomyopathy (DCM) was considered a monogenetic disease that can be caused by over 60 genes. Evidence suggests that the combination of multiple…”
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Rasch-built Overall Disability Scale for Multifocal motor neuropathy (MMN-RODS©) by Vanhoutte, Els K., Faber, Catharina G., van Nes, Sonja I., Cats, Elisabeth A., Van der Pol, W.-Ludo, Gorson, Kenneth C., van Doorn, Pieter A., Cornblath, David R., van den Berg, Leonard H., Merkies, Ingemar S. J.

“…Clinical trials in multifocal motor neuropathy (MMN) have often used ordinal‐based measures that may not accurately capture changes. We aimed to construct a…”
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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands by Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G

“…Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is…”
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Improving fatigue assessment in immune-mediated neuropathies: the modified Rasch-built fatigue severity scale by Van Nes, Sonja I., Vanhoutte, Els K., Faber, Catharina G., Garssen, Marcel, Van Doorn, Pieter A., Merkies, Ingemar S. J.

“…Fatigue is a major disabling complaint in patients with immune‐mediated neuropathies (IN). The 9‐item fatigue severity scale (FSS) has been used to assess…”
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Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers by Verdonschot, Job A. J., Robinson, Emma L., James, Kiely N., Mohamed, Mohamed W., Claes, Godelieve R. F., Casas, Kari, Vanhoutte, Els K., Hazebroek, Mark R., Kringlen, Gabriel, Pasierb, Michele M., Wijngaard, Arthur, Glatz, Jan F. C., Heymans, Stephane R. B., Krapels, Ingrid P. C., Nahas, Shareef, Brunner, Han G., Szklarczyk, Radek

“…Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically…”
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TRUS-MR Fusion Biopsy of the Prostate: Radiological and Histological Correlation by Lavaerts, Michel, De Wever, Liesbeth, Vanhoutte, Els, De Keyzer, Frederik, Oyen, Raymond

“…Targeted magnetic resonance/ultrasound fusion prostate biopsy has been shown to improve the detection of high-grade prostate cancer and to reduce sampling…”
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Peripheral neuropathy in myotonic dystrophy type 1 by Hermans, Mieke C. E., Faber, Catharina G., Vanhoutte, Els K., Bakkers, Mayienne, De Baets, Marc H., de Die-Smulders, Christine E. M., Merkies, Ingemar S. J.

“…Myotonic dystrophy 1 (DM1) is characterized by a wide range of clinical features. We aimed to verify the presence of peripheral nerve involvement in a large…”
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