Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers
Bhonsale, Aditya, Groeneweg, Judith A, James, Cynthia A, Dooijes, Dennis, Tichnell, Crystal, Jongbloed, Jan D H, Murray, Brittney, te Riele, Anneline S J M, van den Berg, Maarten P, Bikker, Hennie, Atsma, Douwe E, de Groot, Natasja M, Houweling, Arjan C, van der Heijden, Jeroen F, Russell, Stuart D, Doevendans, Pieter A, van Veen, Toon A, Tandri, Harikrishna, Wilde, Arthur A, Judge, Daniel P, van Tintelen, J Peter, Calkins, Hugh, Hauer, Richard N
Published in European heart journal (07.04.2015)
Published in European heart journal (07.04.2015)
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Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers–reaching the frontiers of individual risk prediction
Verstraelen, Tom E, van Lint, Freyja H M, Bosman, Laurens P, de Brouwer, Remco, Proost, Virginnio M, Abeln, Bob G S, Taha, Karim, Zwinderman, Aeilko H, Dickhoff, Cathelijne, Oomen, Toon, Schoonderwoerd, Bas A, Kimman, Gerardus P, Houweling, Arjan C, Gimeno-Blanes, Juan R, Asselbergs, Folkert W, van der Zwaag, Paul A, de Boer, Rudolf A, van den Berg, Maarten P, van Tintelen, J Peter, Wilde, Arthur A M
Published in European heart journal (31.07.2021)
Published in European heart journal (31.07.2021)
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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
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
Published in European journal of human genetics : EJHG (01.02.2017)
Published in European journal of human genetics : EJHG (01.02.2017)
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Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature
van de Beek, Irma, van Steensel, Maurice A M, Houweling, Arjan C
Published in BMC medical genomics (15.04.2022)
Published in BMC medical genomics (15.04.2022)
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Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
van de Beek, Irma, Glykofridis, Iris E, Tanck, Michael W T, Luijten, Monique N H, Starink, Theo M, Balk, Jesper A, Johannesma, Paul C, Hennekam, Eric, van den Hoff, Maurice J B, Gunst, Quinn D, Gille, Johan J P, Polstra, Abeltje M, Postmus, Pieter E, van Steensel, Maurice A M, Postma, Alex V, Wolthuis, Rob M F, Menko, Fred H, Houweling, Arjan C, Waisfisz, Quinten
Published in Journal of human genetics (01.04.2023)
Published in Journal of human genetics (01.04.2023)
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Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome
Johannesma, Paul C, van de Beek, Irma, van der Wel, Tijmen J W T, Reinhard, Rinze, Rozendaal, Lawrence, Starink, Theo M, van Waesberghe, Jan Hein T M, Horenblas, Simon, Gille, Hans J J P, Jonker, Marianne A, Meijers-Heijboer, Hanne E J, Postmus, Pieter E, Houweling, Arjan C, van Moorselaar, Jeroen R A
Published in PloS one (07.03.2019)
Published in PloS one (07.03.2019)
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Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice
Sriram, Jincey D, van de Beek, Irma, Johannesma, Paul C, van Werkum, Michiel H, van der Wel, Tijmen J. W. T, Wessels, Elise M, Gille, Hans J. J. P, Houweling, Arjan C, Postmus, Pieter E, Smit, Hans J. M
Published in BMC pulmonary medicine (26.08.2022)
Published in BMC pulmonary medicine (26.08.2022)
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Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells
Glykofridis, Iris E, Knol, Jaco C, Balk, Jesper A, Westland, Denise, Pham, Thang V, Piersma, Sander R, Lougheed, Sinéad M, Derakhshan, Sepide, Veen, Puck, Rooimans, Martin A, van Mil, Saskia E, Böttger, Franziska, Poddighe, Pino J, van de Beek, Irma, Drost, Jarno, Zwartkruis, Fried Jt, de Menezes, Renee X, Meijers-Heijboer, Hanne Ej, Houweling, Arjan C, Jimenez, Connie R, Wolthuis, Rob Mf
Published in eLife (18.01.2021)
Published in eLife (18.01.2021)
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TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy
Alaamery, Manal, Albesher, Nour, Alhabshan, Fahad, Barnett, Phil, Salim Kabbani, Mohamed, Chaikhouni, Farah, Ilgun, Aho, Mook, Olaf R. F., Alsaif, Hessa, Christoffels, Vincent M., van Tintelen, Peter, Wilde, Arthur A. M., Houweling, Arjan C., Massadeh, Salam, Postma, Alex V.
Published in Journal of cardiovascular development and disease (01.11.2023)
Published in Journal of cardiovascular development and disease (01.11.2023)
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Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients
van den Heuvel, Lieke M., Jansen, Samara M. A., Alsters, Suzanne I. M., Post, Marco C., van der Smagt, Jasper J., Handoko-De Man, Frances S., van Tintelen, J. Peter, Gille, Hans, Christiaans, Imke, Vonk Noordegraaf, Anton, Bogaard, HarmJan, Houweling, Arjan C.
Published in Genes (13.10.2020)
Published in Genes (13.10.2020)
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Uptake and Patient Perspectives on Additional Testing for Novel Disease-Associated Genes: Lessons from a PAH Cohort
Jansen, Samara M A, van de Heuvel, Lieke M, Houweling, Arjan C, van Tintelen, J Peter, de Man, Frances S, Vonk Noordegraaf, Anton, Jan Bogaard, Harm
Published in Genes (28.09.2021)
Published in Genes (28.09.2021)
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Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors
Beek, Irma, Glykofridis, Iris E., Wagner, Anja, Toom, Dorine T., Bongers, Ernie M. H. F., Leenders, Geert J. L. H., Johannesma, Paul C., Meijers‐Heijboer, Hanne E. J., Wolthuis, Rob M. F., Steensel, Maurice A. M., Dubbink, Hendrikus J., Houweling, Arjan C.
Published in Molecular genetics & genomic medicine (01.02.2023)
Published in Molecular genetics & genomic medicine (01.02.2023)
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Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
Postma, Alex V., Rapp, Christina K., Knoflach, Katrin, Volk, Alexander E., Lemke, Johannes R., Ackermann, Maximilian, Regamey, Nicolas, Latzin, Philipp, Celant, Lucas, Jansen, Samara M.A., Bogaard, Harm J., Ilgun, Aho, Alders, Mariëlle, van Spaendonck-Zwarts, Karin Y., Jonigk, Danny, Klein, Christoph, Gräf, Stefan, Kubisch, Christian, Houweling, Arjan C., Griese, Matthias
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
Overwater, Eline, Efrat, Rifka, Barge‐Schaapveld, Daniela Q. C. M., Lakeman, Phillis, Weiss, Marjan M., Maugeri, Alessandra, van Tintelen, J. Peter, Houweling, Arjan C.
Published in Molecular genetics & genomic medicine (01.02.2019)
Published in Molecular genetics & genomic medicine (01.02.2019)
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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M, Southwood, Mark, Machado, Rajiv D, Martin, Jennifer M, Treacy, Carmen M, Yates, Katherine, Daugherty, Louise C, Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Girerd, Barbara, Houweling, Arjan C, Howard, Luke, Humbert, Marc, Kiely, David G, Kovacs, Gabor, MacKenzie Ross, Robert V, Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J, Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J, Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F, Suntharalingam, Jay, Swietlik, Emilia M, Toshner, Mark R, van Heel, David A, Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J, Ouwehand, Willem H, Soranzo, Nicole, Lawrie, Allan, Upton, Paul D, Wilkins, Martin R, Trembath, Richard C, Morrell, Nicholas W
Published in Nature communications (12.04.2018)
Published in Nature communications (12.04.2018)
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Journal Article
Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy
Groeneweg, Judith A., MD, Ummels, Amber, Mulder, Marcel, Bikker, Hennie, PhD, van der Smagt, Jasper J., MD, van Mil, Anneke M, Homfray, Tessa, MD, Post, Jan G., MD, Elvan, Arif, MD, PhD, van der Heijden, Jeroen F., MD, PhD, Houweling, Arjan C., MD, PhD, Jongbloed, Jan D.H., PhD, Wilde, Arthur A.M., MD, PhD, van Tintelen, J. Peter, MD, PhD, Hauer, Richard N., MD, PhD, Dooijes, Dennis, PhD
Published in Heart rhythm (01.11.2014)
Published in Heart rhythm (01.11.2014)
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Distinct Regulation of Developmental and Heart Disease–Induced Atrial Natriuretic Factor Expression by Two Separate Distal Sequences
Horsthuis, Thomas, Houweling, Arjan C, Habets, Petra E.M.H, de Lange, Frederik J, el Azzouzi, Hamid, Clout, Danielle E.W, Moorman, Antoon F.M, Christoffels, Vincent M
Published in Circulation research (11.04.2008)
Published in Circulation research (11.04.2008)
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Familial multiple discoid fibromas: A look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus
Starink, Theo M., MD, PhD, Houweling, Arjan C., MD, PhD, van Doorn, Martijn B.A., MD, PhD, Leter, Edward M., MD, PhD, Jaspars, Elisabeth H., MD, PhD, van Moorselaar, R. Jeroen A., MD, PhD, Postmus, Piet E., MD, PhD, Johannesma, Paul C., MD, van Waesberghe, Jan Hein, MD, PhD, Ploeger, Martijn H., RN, Kramer, Marieke T., MSc, Gille, Johan J.P., PhD, Waisfisz, Quinten, PhD, Menko, Fred H., MD, PhD
Published in Journal of the American Academy of Dermatology (01.02.2012)
Published in Journal of the American Academy of Dermatology (01.02.2012)
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Editorial commentary: Towards gene based recommendations in cardiomyopathy
van der Crabben, Saskia N., Postma, Alex V., Houweling, Arjan C.
Published in Trends in cardiovascular medicine (19.07.2024)
Published in Trends in cardiovascular medicine (19.07.2024)
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