Search Results - "Houweling, A C"

Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families by Houweling, A C, Gijezen, L M, Jonker, M A, van Doorn, M B A, Oldenburg, R A, van Spaendonck-Zwarts, K Y, Leter, E M, van Os, T A, van Grieken, N C T, Jaspars, E H, de Jong, M M, Bongers, E M H F, Johannesma, P C, Postmus, P E, van Moorselaar, R J A, van Waesberghe, J-Htm, Starink, T M, van Steensel, M A M, Gille, J J P, Menko, F H

“…Background: Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas,…”
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Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report by van Riel, L., Kets, C. M., van Hest, L. P., Menko, F. H., Boerrigter, B. G., Franken, S. M., Wolthuis, R. M.F., Dubbink, H. J., Zondervan, P. J., van Moorselaar, R. J.A., Houweling, A. C., van de Beek, I.

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Non-sustained ventricular tachycardias, conduction disorders and an impaired left ventricular ejection fraction in a 32-year-old woman by Alsters, S., Polyukhovych, Y., Bikker, H., Wong, L., Houweling, A. C.

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Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1 by Overwater, E., Van Rossum, K., Baars, M. J. H., Maugeri, A., Houweling, A. C.

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Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest by Isrie, M., Wong, L., van Hagen, J. M., Houweling, A. C.

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Fatal neonatal hypertrophic cardiomyopathy caused by compound heterozygous truncating MYBPC3 mutation by Alsters, S., Wong, L., Peferoen, L., Niessen, H. W. M., Bikker, H., Elting, M. W., Houweling, A. C.

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Genetic Diagnosis in Sudden Cardiac Death: The Crucial Role of Multidisciplinary Care by van der Crabben, S. N., Komdeur, F. L., Nossent, E. J., Deprez, R. H. Lekanne, Broekhuizen, E. A., van der Werf, C., Vermeer, A. M. C., Niessen, H. W. M., Houweling, A. C.

“…Sudden death, especially at a young age, may be caused by an underlying genetic cause. Hereditary conditions with an increased risk of sudden death at a young…”
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Sensitive Nonradioactive Detection of mRNA in Tissue Sections: Novel Application of the Whole-mount In Situ Hybridization Protocol by Moorman, Antoon F. M., Houweling, Arjan C., de Boer, Piet A. J., Christoffels, Vincent M.

“…The relative insensitivity of nonradioactive mRNA detection in tissue sections compared to the sensitive nonradioactive detection of single-copy DNA sequences…”
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Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes by Houweling, A. C., de Mooij, Y. M., van der Burgt, I., Yntema, H. G., Lachmeijer, A. M. A., Go, A. T. J. I.

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Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis by van den Ouweland, Ans M. W., Elfferich, Peter, Lamping, Roy, van de Graaf, Raoul, van Veghel-Plandsoen, Monique M., Franken, S. M., Houweling, A. C.

“…Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial…”
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Characterization of a prototype MR-compatible Delta4 QA system in a 1.5 tesla MR-linac by de Vries, J H W, Seravalli, E, Houweling, A C, Woodings, S J, van Rooij, R, Wolthaus, J W H, Lagendijk, J J W, Raaymakers, B W

“…To perform patient plan quality assurance (QA) on a newly installed MR-linac (MRL) it is necessary to have an MR-compatible QA device. An MR compatible device…”
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Performance of a cylindrical diode array for use in a 1.5 T MR-linac by Houweling, A C, de Vries, J H W, Wolthaus, J, Woodings, S, Kok, J G M, van Asselen, B, Smit, K, Bel, A, Lagendijk, J J W, Raaymakers, B W

“…At the UMC Utrecht, a linear accelerator with integrated magnetic resonance imaging (MRI) has been developed, the MR-linac. Patient-specific quality assurance…”
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The Netherlands Heart Tissue Bank: Strengthening the cardiovascular research infrastructure with an open access Cardiac Tissue Repository by Henkens, M. T. H. M., van Ast, J. F., te Riele, A. S. J. M., Houweling, A. C., Amin, A. S., Nijveldt, R., Antoni, M. L., Li, X., Wehrens, S. M. T., von der Thüsen, J. H., Damman, K., ter Horst, E. N., Manintveld, O. C., Abma-Schouten, R. Y., Niessen, H. W. M., Silljé, H. H. W., Jukema, J. W., Doevendans, P. A.

“…Aim Cardiac diseases remain a leading cause of cardiovascular disease (CVD) related hospitalisation and mortality. That is why research to improve our…”
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Adaptive radiotherapy for breast cancer by De-Colle, C., Kirby, A., Russell, N., Shaitelman, S.F., Currey, A., Donovan, E., Hahn, E., Han, K., Anandadas, C.N., Mahmood, F., Lorenzen, E.L., van den Bongard, D., Groot Koerkamp, M.L., Houweling, A.C., Nachbar, M., Thorwarth, D., Zips, D.

“…•Adaptive radiotherapy offers potential clinical benefits for breast cancer patients.•Advantages of MR-guided adaptive radiotherapy are expected in the…”
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Multiple myocardial crypts on modified long-axis view are a specific finding in pre-hypertrophic HCM mutation carriers by Brouwer, Wessel P, Germans, Tjeerd, Head, Maaike C, van der Velden, Jolanda, Heymans, Martijn W, Christiaans, Imke, Houweling, Arjan C, Wilde, Arthur A, van Rossum, Albert C

“…Crypts can be found with cardiovascular magnetic resonance imaging (CMR) in hypertrophic cardiomyopathy (HCM) mutation carriers without hypertrophy (carriers)…”
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Spontaneous Coronary Artery Dissection as Presenting Feature of Vascular Ehlers-Danlos Syndrome by Bos, J., Overwater, E., Dirksen, M.T., Simsek, S., Demirdas, S., Houweling, A.C.

“…A spontaneous coronary artery dissection as the sole presenting feature of vascular Ehlers-Danlos syndrome is an uncommon finding. We present a 33-year-old…”
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Single dose partial breast irradiation using an MRI linear accelerator in the supine and prone treatment position by Charaghvandi, K.R., van't Westeinde, T., Yoo, S., Houweling, A.C., Rodrigues, A., Verkooijen, H.M., Philippens, M.E.P., van Asselen, B., Horton, J.K., van den Bongard, H.J.G.D.

“…•All MRI-linac plans met the coverage and predefined OAR constraints.•The prone approach appeared to be more favorable with respect to the chest wall, and…”
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Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt–Hogg–Dubé syndrome by Johannesma, P. C., van de Beek, I., van der Wel, J. W. T., Paul, M. A., Houweling, A. C., Jonker, M. A., van Waesberghe, J. H. T. M., Reinhard, R., Starink, Th. M., van Moorselaar, R. J. A., Menko, F. H., Postmus, P. E.

“…Background and objectives Birt–Hogg–Dubé syndrome is an autosomal dominant disorder characterized by skin fibrofolliculomas, lung cysts, spontaneous…”
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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield by Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A.J.M, van Kaam, K.J, van de Kamp, J.M, Kempers, M, Krapels, I.P.C, Kroes, H.Y, Loeys, B, Salemink, S, Stumpel, C.T.R.M, Verhoeven, V.J.M, Wijnands-van den Berg, E, Cobben, J.M, van Tintelen, J.P, Weiss, M.M, Houweling, A.C, Maugeri, A

“…Abstract Background Several genetic causes of ectopia lentis (EL), with or without systemic features, are known. The differentiation between syndromic and…”
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The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation by Overwater, E., Smulders, Y., van der Burg, M., Lombardi, M. P., Meijers-Heijboer, H. E., Kuijpers, T. W., Houweling, A. C.

“…We present a case of a fatal Epstein-Barr infection in a 17-year-old male patient suspected to be caused by X-linked lymphoproliferative disease. At the time…”
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