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

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

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

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

Seventh BHD international symposium: recent scientific and clinical advancement

por Woodford, Mark R., Andreou, Avgi, Baba, Masaya, van de Beek, Irma, Di Malta, Chiara, Glykofridis, Iris, Grimes, Hannah, Henske, Elizabeth P., Iliopoulos, Othon, Kurihara, Masatoshi, Lazor, Romain, Linehan, W. Marston, Matsumoto, Kenki, Marciniak, Stefan J., Namba, Yukiko, Pause, Arnim, Rajan, Neil, Ray, Anindita, Schmidt, Laura S., Shi, Wei, Steinlein, Ortrud K., Thierauf, Julia, Zoncu, Roberto, Webb, Anna, Mollapour, Mehdi
Publicado 2022

Survival of BRCA1/BRCA2-associated pT1 breast cancer patients, a cohort study

por van Barele, Mark, Rieborn, Amy, Heemskerk-Gerritsen, Bernadette A. M., Obdeijn, Inge-Marie, Koppert, Linetta B., Loo, Claudette E., Tollenaar, Rob A. E. M., Ausems, Margreet G. E. M., van de Beek, Irma, Berger, Lieke P. V., de Boer, Maaike, van Hest, Liselot P., Kets, C. Marleen, Rookus, Matti, Schmidt, Marjanka K., Jager, Agnes, Hooning, Maartje J.
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

Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study

por Akdeniz, Delal, van Barele, Mark, Heemskerk-Gerritsen, Bernadette A.M., Steyerberg, Ewout W., Hauptmann, Michael, van de Beek, Irma, van Engelen, Klaartje, Wevers, Marijke R., Gómez García, Encarnacion B., Ausems, Margreet G.E.M., Berger, Lieke P.V., van Asperen, Christi J., Adank, Muriel A., Collée, Margriet J., Stommel-Jenner, Denise J., Jager, Agnes, Schmidt, Marjanka K., Hooning, Maartje J.
Publicado 2021

Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study

por de Jonge, Marthe M, de Kroon, Cornelis D, Jenner, Denise J, Oosting, Jan, de Hullu, Joanne A, Mourits, Marian J E, Gómez Garcia, Encarna B, Ausems, Margreet G E M, Margriet Collée, J, van Engelen, Klaartje, van de Beek, Irma, Smit, Vincent T H B M, Rookus, Matti A, de Bock, Geertruida H, van Leeuwen, Flora E, Bosse, Tjalling, Dekkers, Olaf M, van Asperen, Christi J
Publicado 2021

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

por Marsili, Luisa, van Lint, Freyja H. M., Russo, Francesco, van Spaendonck-Zwarts, Karin Y., Ader, Flavie, Bichon, Marie-Line, Faivre, Laurence, Houweling, Arjan C., Isidor, Bertrand, Lekanne Deprez, Ronald H., Cox, Moniek G. P. J., Wilde, Arthur A. M., Mazel, Benoit, Mercier, Sandra, Dooijes, Dennis, Millat, Gilles, Nguyen, Karine, Post, Jan G., Richard, Pascale, van de Beek, Irma, Vermeer, Alexa M. C., Boven, Ludolf, Jongbloed, Jan D. H., van Tintelen, J. Peter
Publicado 2023

Long-Term Morbidity and Health After Early Menopause Due to Oophorectomy in Women at Increased Risk of Ovarian Cancer: Protocol for a Nationwide Cross-Sectional Study With Prospect...

por Terra, Lara, Hooning, Maartje J, Heemskerk-Gerritsen, Bernadette A M, van Beurden, Marc, Roeters van Lennep, Jeanine E, van Doorn, Helena C, de Hullu, Joanne A, Mom, Constantijne, van Dorst, Eleonora B L, Mourits, Marian J E, Slangen, Brigitte F M, Gaarenstroom, Katja N, Zillikens, M Carola, Leiner, Tim, van der Kolk, Lizet, Collee, Margriet, Wevers, Marijke, Ausems, Margreet G E M, van Engelen, Klaartje, Berger, Lieke PV, van Asperen, Christi J, Gomez-Garcia, Encarna B, van de Beek, Irma, Rookus, Matti A, Hauptmann, Michael, Bleiker, Eveline M, Schagen, Sanne B, Aaronson, Neil K, Maas, Angela H E M, van Leeuwen, Flora E
Publicado 2021

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

por Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, van Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, van de Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel
Publicado 2021

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

por Kast, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., Engel, Christoph
Publicado 2023