Characterization of Degenerative Mitral Valve Disease: Differences between Fibroelastic Deficiency and Barlow’s Disease

Por van Wijngaarden, Aniek L., Kruithof, Boudewijn P. T., Vinella, Tommaso, Barge-Schaapveld, Daniela Q. C. M., Ajmone Marsan, Nina
Publicado no J Cardiovasc Dev Dis (2021)

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 no Mol Genet Genomic Med (2018)

Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant

Por Potjer, Thomas P, Kranenburg, Heidi E, Bergman, Wilma, de Vos tot Nederveen Cappel, Wouter H, van Monsjou, Hester S, Barge-Schaapveld, Daniela Q C M, Vasen, Hans F A
Publicado no Eur J Hum Genet (2015)

Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome

Por Cozijnsen, Luc, Plomp, Astrid S., Post, Jan G., Pals, Gerard, Bogunovic, Natalija, Yeung, Kak K., Niessen, Hans W. M., Goumans, Marie‐José T. H., Barge‐Schaapveld, Daniela Q. C. M., Micha, Dimitra
Publicado no Mol Genet Genomic Med (2019)

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum

Por Škorić‐Milosavljević, Doris, Tjong, Fleur V. Y., Barc, Julien, Backx, Ad P. C. M., Clur, Sally‐Ann B., van Spaendonck‐Zwarts, Karin, Oostra, Roelof‐Jan, Lahrouchi, Najim, Beekman, Leander, Bökenkamp, Regina, Barge‐Schaapveld, Daniela Q. C. M., Mulder, Barbara J., Lodder, Elisabeth M., Bezzina, Connie R., Postma, Alex V.
Publicado no Am J Med Genet A (2019)

The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy

Por Hoorntje, Edgar T., van Spaendonck‐Zwarts, Karin Y., te Rijdt, Wouter P., Boven, Ludolf, Vink, Aryan, van der Smagt, Jasper J., Asselbergs, Folkert W., van Wijngaarden, Jan, Hennekam, Eric A., Pinto, Yigal M., Lekanne Deprez, Ronald H., Barge‐Schaapveld, Daniela Q.C.M., Bootsma, Marianne, Regieli, Jakub, Hoedemaekers, Yvonne M., Jongbloed, Jan D.H., van den Berg, Maarten P., van Tintelen, J. Peter
Publicado no Eur J Heart Fail (2017)

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Por Verdonschot, Job A. J., Vanhoutte, Els K., Claes, Godelieve R. F., Helderman‐van den Enden, Apollonia T. J. M., Hoeijmakers, Janneke G. J., Hellebrekers, Debby M. E. I., de Haan, Amber, Christiaans, Imke, Lekanne Deprez, Ronald H., Boen, Hanne M., van Craenenbroeck, Emeline M., Loeys, Bart L., Hoedemaekers, Yvonne M., Marcelis, Carlo, Kempers, Marlies, Brusse, Esther, van Waning, Jaap I., Baas, Annette F., Dooijes, Dennis, Asselbergs, Folkert W., Barge‐Schaapveld, Daniela Q. C. M., Koopman, Pieter, van den Wijngaard, Arthur, Heymans, Stephane R. B., Krapels, Ingrid P. C., Brunner, Han G.
Publicado no Hum Mutat (2020)

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Por Flex, Elisabetta, Martinelli, Simone, Van Dijck, Anke, Ciolfi, Andrea, Cecchetti, Serena, Coluzzi, Elisa, Pannone, Luca, Andreoli, Cristina, Radio, Francesca Clementina, Pizzi, Simone, Carpentieri, Giovanna, Bruselles, Alessandro, Catanzaro, Giuseppina, Pedace, Lucia, Miele, Evelina, Carcarino, Elena, Ge, Xiaoyan, Chijiwa, Chieko, Lewis, M.E. Suzanne, Meuwissen, Marije, Kenis, Sandra, Van der Aa, Nathalie, Larson, Austin, Brown, Kathleen, Wasserstein, Melissa P., Skotko, Brian G., Begtrup, Amber, Person, Richard, Karayiorgou, Maria, Roos, J. Louw, Van Gassen, Koen L., Koopmans, Marije, Bijlsma, Emilia K., Santen, Gijs W.E., Barge-Schaapveld, Daniela Q.C.M., Ruivenkamp, Claudia A.L., Hoffer, Mariette J.V., Lalani, Seema R., Streff, Haley, Craigen, William J., Graham, Brett H., van den Elzen, Annette P.M., Kamphuis, Daan J., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, Wojcik, Monica H., Viberti, Clara, Di Gaetano, Cornelia, Bertini, Enrico, Petrucci, Simona, De Luca, Alessandro, Rota, Rossella, Ferretti, Elisabetta, Matullo, Giuseppe, Dallapiccola, Bruno, Sgura, Antonella, Walkiewicz, Magdalena, Kooy, R. Frank, Tartaglia, Marco
Publicado no Am J Hum Genet (2019)