Effects of medroxyprogesterone acetate on appetite, weight, and quality of life in advanced-stage non-hormone-sensitive cancer: a placebo-controlled multicenter study von SIMONS, J. P. F. H. A, AARONSON, N. K, SCHOUTEN, H. C, DEMEDTS, M, HILLEN, H. F. P, BLIJHAM, G. H, WOUTERS, E. F. M, VANSTEENKISTE, J. F, TEN VELDE, G. P. M, MULLER, M. J, DRENTH, B. M, ERDKAMP, F. L. G, COBBEN, E. G. M, SCHOON, E. J, SMEETS, J. B. E

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Carcino-embryonic antigen—no help with the differential diagnosis von Cobben-Beld, E.G.M., Nortier, J.W.R., Kramer, W.L.M., Wiel, A.v.d., Rodenburg, C.J.

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Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome von van de Laar, Ingrid M B H, van der Linde, Denise, Oei, Edwin H G, Bos, Pieter K, Bessems, Johannes H, Bierma-Zeinstra, Sita M, van Meer, Belle L, Pals, Gerard, Oldenburg, Rogier A, Bekkers, Jos A, Moelker, Adriaan, de Graaf, Bianca M, Matyas, Gabor, Frohn-Mulder, Ingrid M E, Timmermans, Janneke, Hilhorst-Hofstee, Yvonne, Cobben, Jan M, Bruggenwirth, Hennie T, van Laer, Lut, Loeys, Bart, De Backer, Julie, Coucke, Paul J, Dietz, Harry C, Willems, Patrick J, Oostra, Ben A, De Paepe, Anne, Roos-Hesselink, Jolien W, Bertoli-Avella, Aida M, Wessels, Marja W

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Down syndrome: a cardiovascular perspective von Vis, J. C., Duffels, M. G. J., Winter, M. M., Weijerman, M. E., Cobben, J. M., Huisman, S. A., Mulder, B. J. M.

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Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome von Lacro, Ronald V, Dietz, Harry C, Sleeper, Lynn A, Yetman, Anji T, Bradley, Timothy J, Colan, Steven D, Pearson, Gail D, Selamet Tierney, E. Seda, Levine, Jami C, Atz, Andrew M, Benson, D. Woodrow, Braverman, Alan C, Chen, Shan, De Backer, Julie, Gelb, Bruce D, Grossfeld, Paul D, Klein, Gloria L, Lai, Wyman W, Liou, Aimee, Loeys, Bart L, Markham, Larry W, Olson, Aaron K, Paridon, Stephen M, Pemberton, Victoria L, Pierpont, Mary Ella, Pyeritz, Reed E, Radojewski, Elizabeth, Roman, Mary J, Sharkey, Angela M, Stylianou, Mario P, Wechsler, Stephanie Burns, Young, Luciana T, Mahony, Lynn

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Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance von Barth, Peter G., Majoie, Charles B., Caan, Matthan W.A., Weterman, Marian A.J., Kyllerman, Marten, Smit, Leo M.E., Kaplan, Richard A., Haas, Richard H., Baas, Frank, Cobben, Jan-Maarten, Poll-The, Bwee Tien

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Predictors for long‐term mortality in COPD patients requiring non‐invasive positive pressure ventilation for the treatment of acute respiratory failure von Sprooten, Roy T. M., Rohde, Gernot G. U., Janssen, Marlou T. H. F., Cobben, Nicolle A. M., Wouters, Emiel F. M., Franssen, Frits M. E.

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Epigenotype–phenotype correlations in Silver–Russell syndrome von Wakeling, E L, Amero, S Abu, Alders, M, Bliek, J, Forsythe, E, Kumar, S, Lim, D H, MacDonald, F, Mackay, D J, Maher, E R, Moore, G E, Poole, R L, Price, S M, Tangeraas, T, Turner, C L S, Van Haelst, M M, Willoughby, C, Temple, I K, Cobben, J M

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The clinical spectrum of complete FBN1 allele deletions von HILHORST-HOFSTEE, Yvonne, HAMEL, Ben Cj, MOLL, Henriette A, BREUNING, Martijn H, PALS, Gerard, VERHEIJ, Joke Bgm, RIJLAARSDAM, Marry Eb, MANCINI, Grazia Ms, COBBEN, Jan M, GIROTH, Cindy, RUIVENKAMP, Claudia Al, HANSSON, Kerstin Bm, TIMMERMANS, Janneke

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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders von Guo, Hui, Bettella, Elisa, Marcogliese, Paul C., Zhao, Rongjuan, Andrews, Jonathan C., Nowakowski, Tomasz J., Gillentine, Madelyn A., Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein H., van Bon, Bregje W., Rinne, Tuula, Stevens, Servi J. C., Kleefstra, Tjitske, Brunner, Han G., Yntema, Helger G., Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles E., Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta U., Erwin, Deanna J., Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Herman, Kristin, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy B., Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather C., Muir, Alison M., Scheffer, Ingrid E., Regan, Brigid M., Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan M., Waisfisz, Quinten, Bijlsma, Emilia K., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Sartori, Stefano, Xia, Fan, Rosenfeld, Jill A., Bernier, Raphael A., Wangler, Michael F., Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander P. A., Bellen, Hugo J., Murgia, Alessandra, Eichler, Evan E.

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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome von Oud, Machteld M., Tuijnenburg, Paul, Hempel, Maja, van Vlies, Naomi, Ren, Zemin, Ferdinandusse, Sacha, Jansen, Machiel H., Santer, René, Johannsen, Jessika, Bacchelli, Chiara, Alders, Marielle, Li, Rui, Davies, Rosalind, Dupuis, Lucie, Cale, Catherine M., Wanders, Ronald J.A., Pals, Steven T., Ocaka, Louise, James, Chela, Müller, Ingo, Lehmberg, Kai, Strom, Tim, Engels, Hartmut, Williams, Hywel J., Beales, Phil, Roepman, Ronald, Dias, Patricia, Brunner, Han G., Cobben, Jan-Maarten, Hall, Christine, Hartley, Taila, Le Quesne Stabej, Polona, Mendoza-Londono, Roberto, Davies, E. Graham, de Sousa, Sérgio B., Lessel, Davor, Arts, Heleen H., Kuijpers, Taco W.

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An updated evaluation of the implementation of the sigmoid take-off landmark 1 year after the official introduction in the Netherlands von Hazen, S. J. A., Sluckin, T. C., Horsthuis, K., Lambregts, D. M. J., Beets-Tan, R. G. H., Tanis, P. J., Kusters, M.

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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome von Brunner, Han G, Hoischen, Alexander, van Bon, Bregje W M, Rodríguez-Santiago, Benjamín, Gilissen, Christian, Vissers, Lisenka E L M, de Vries, Petra, Janssen, Irene, van Lier, Bart, Hastings, Rob, Smithson, Sarah F, Newbury-Ecob, Ruth, Kjaergaard, Susanne, Goodship, Judith, McGowan, Ruth, Bartholdi, Deborah, Rauch, Anita, Peippo, Maarit, Cobben, Jan M, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Veltman, Joris A, de Vries, Bert B B A

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Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands von van den Bergen, J.C., Ginjaar, H.B., van Essen, A.J., Pangalila, R., de Groot, I.J.M., Wijkstra, P.J., Zijnen, M.P., Cobben, N.A.M., Kampelmacher, M.J., Wokke, B.H.A., de Coo, I.F.M., Fock, J.M., Horemans, A.M.C., van Tol, M., Vroom, E., Rijlaarsdam, M.E.B., Straathof, C.S.M., Niks, E.H., Verschuuren, J.J.G.M.

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A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient von Setijowati, E.D, van Dijk, F.S, Cobben, J.M, van Rijn, R.R, Sistermans, E.A, Faradz, S.M.H, Kawiyana, S, Pals, G

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Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy von COBBEN, J. M, VAN DER STEEGE, G, GROOTSCHOLTEN, P, DE VISSER, M, SCHEFFER, H, BUYS, C. H. C. M

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CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis von VAN DIJK, Fleur S, NESBITT, Isabel M, TAN-SINDHUNATA, Gita Mb, VAN RIJN, Rick R, MEIJERS-HEIJBOER, Hanne, COBBEN, Jan M, PALS, Gerard, NIKKELS, Peter Gj, DALTON, Ann, BONGERS, Ernie Mhf, VAN DE KAMP, Jiddeke M, HILHORST-HOFSTEE, Yvonne, DEN HOLLANDER, Nicolette S, LACHMEIJER, Augusta Ma, MARCELIS, Carlo L

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Computer program supporting the diagnostic accuracy of cellular BALF analysis: a new release von DRENT, M., JACOBS, J.A., COBBEN, N.A.M., COSTABEL, U., WOUTERS, E.F.M., MULDER, P.G.H.

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Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum von Sukalo, Maja, Fiedler, Ariane, Guzmán, Celina, Spranger, Stephanie, Addor, Marie-Claude, Mcheik, Jiad N., Oltra Benavent, Manuel, Cobben, Jan M., Gillis, Lynette A., Shealy, Amy G., Deshpande, Charu, Bozorgmehr, Bita, Everman, David B., Stattin, Eva-Lena, Liebelt, Jan, Keller, Klaus-Michael, Bertola, Débora Romeo, van Karnebeek, Clara D.M., Bergmann, Carsten, Liu, Zhifeng, Düker, Gesche, Rezaei, Nima, Alkuraya, Fowzan S., Oğur, Gönül, Alrajoudi, Abdullah, Venegas-Vega, Carlos A., Verbeek, Nienke E., Richmond, Erick J., Kirbiyik, Özgür, Ranganath, Prajnya, Singh, Ankur, Godbole, Koumudi, Ali, Fouad A. M., Alves, Crésio, Mayerle, Julia, Lerch, Markus M., Witt, Heiko, Zenker, Martin

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A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient von Setijowati, E.D., van Dijk, F.S., Cobben, J.M., van Rijn, R.R., Sistermans, E.A., Faradz, S.M.H., Kawiyana, S., Pals, G.

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