Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

por van de Beek, Irma, van Steensel, Maurice A. M., Houweling, Arjan C.
Publicado 2022

A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene

por Stokman, Lara, Nossent, Esther J., Grunberg, Katrien, Meijboom, Lilian, Yakicier, Mustafa C., Voorhoeve, Els, Houweling, Arjan C.
Publicado 2016

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

por Overwater, Eline, Efrat, Rifka, Barge‐Schaapveld, Daniela Q. C. M., Lakeman, Phillis, Weiss, Marjan M., Maugeri, Alessandra, van Tintelen, J. Peter, Houweling, Arjan C.
Publicado 2018

The effect of inhibition of the Na(+)/H(+) exchanger on the development of hypertrophy in hypertrophic cardiomyopathy

por Brouwer, Wessel P, Houweling, Arjan C, Nederhoff, Marcel G, Germans, Tjeerd, van Borren, Marcel M, Pasterkamp, Gerard, van der Velden, Jolanda, van Rossum, Albert C
Publicado 2011

Uptake and Patient Perspectives on Additional Testing for Novel Disease-Associated Genes: Lessons from a PAH Cohort

por 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
Publicado 2021

No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome

por van de Beek, Irma, Glykofridis, Iris E., Wolthuis, Rob M. F., Gille, Hans J. J. P., Johannesma, Paul C., Meijers-Heijboer, Hanne E. J., Moorselaar, R. Jeroen A. van, Houweling, Arjan C.
Publicado 2019

Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?

por Johannesma, Paul C., Houweling, Arjan C., Menko, Fred H., van de Beek, I., Reinhard, Rinze, Gille, Johan J. P., van Waesberghe, JanHein T. M., Thunnissen, Erik, Starink, Theo M., Postmus, Pieter E., van Moorselaar, R. Jeroen A.
Publicado 2015

Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice

por 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.
Publicado 2022

TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy

por 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.
Publicado 2023

No prominent role for complement C1-esterase inhibitor in Marfan syndrome mice

por Hibender, Stijntje, Li, Siyu, Postma, Alex V, Hoogeland, Myrthe E, Klaver, Denise, Pouw, Richard B, Niessen, Hans W, Driessen, Antoine HG, Koolbergen, David R, de Vries, Carlie JM, Baars, Marieke JH, Houweling, Arjan C, Krijnen, Paul A, de Waard, Vivian
Publicado 2022

Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients

por 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.
Publicado 2020

Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction

por van Ouwerkerk, Antoinette F., Bosada, Fernanda M., van Duijvenboden, Karel, Houweling, Arjan C., Scholman, Koen T., Wakker, Vincent, Allaart, Cornelis P., Uhm, Jae-Sun, Mathijssen, Inge B., Baartscheer, Ton, Postma, Alex V., Barnett, Phil, Verkerk, Arie O., Boukens, Bastiaan J., Christoffels, Vincent M.
Publicado 2022

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors

por van de Beek, Irma, Glykofridis, Iris E., Wagner, Anja, den Toom, Dorine T., Bongers, Ernie M. H. F., van Leenders, Geert J. L. H., Johannesma, Paul C., Meijers‐Heijboer, Hanne E. J., Wolthuis, Rob M. F., van Steensel, Maurice A. M., Dubbink, Hendrikus J., Houweling, Arjan C.
Publicado 2022

Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome

por 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.
Publicado 2019

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis

por van de Beek, Irma, Glykofridis, Iris E, Oosterwijk, Jan C, van den Akker, Peter C, Diercks, Gilles F H, Bolling, Maria C, Waisfisz, Quinten, Mensenkamp, Arjen R, Balk, Jesper A, Zwart, Rob, Postma, Alex V, Meijers-Heijboer, Hanne E J, van Moorselaar, R Jeroen A, Wolthuis, Rob M F, Houweling, Arjan C
Publicado 2022

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

por Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A. M., Baars, Marieke J. H., Dulfer, Eelco, Hilhorst‐Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P. C., van de Laar, Ingrid M. B. H., Loeys, Bart, Spaans, Alexander M. J., Warnink‐Kavelaars, Jessica, de Waard, Vivian, Wit, Jan M., Menke, Leonie A.
Publicado 2022

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

por Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., van de Beek, Irma, Dulfer, Eelco, van Hagen, Johanna M., Hilhorst‐Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, van Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, van Tintelen, J. Peter, Houweling, Arjan C., Maugeri, Alessandra
Publicado 2018

Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells

por 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
Publicado 2021

Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers–reaching the frontiers of individual risk prediction

por 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
Publicado 2021

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant

por Bos, Thomas A., Piers, Sebastiaan R. D., Wessels, Marja W., Houweling, Arjan C., Bökenkamp, Regina, Bootsma, Marianne, Bosman, Laurens P., Evertz, Reinder, Hellebrekers, Debby M. E. I., Hoedemaekers, Yvonne M., Knijnenburg, Jeroen, Lekanne Deprez, Ronald, van Mil, Anneke M., te Riele, Anneline S. J. M., van Slegtenhorst, Marjon A., Wilde, Arthur A. M., Yap, Sing-Chien, Dooijes, Dennis, Koopmann, Tamara T., van Tintelen, J. Peter, Barge-Schaapveld, Daniela Q. C. M.
Publicado 2023