Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience von Vernimmen, Vivian, Paulussen, Aimée D C, Dreesen, Jos C F M, van Golde, Ron J, Zamani Esteki, Masoud, Coonen, Edith, van Buul-van Zwet, Marianne L, Homminga, Irene, Derijck, Alwin A H A, Brandts, Lloyd, Stumpel, Constance T R M, de Die-Smulders, Christine E M

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Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV von Peltenburg, N Chantal, Bierau, Jörgen, Bakker, Jaap A, Schippers, Jolanda A, Lowe, Selwyn H, Paulussen, Aimée D C, van den Bosch, Bianca J C, Leers, Mathie P G, Hansen, Bettina E, Verbon, Annelies

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PLGA nanoparticles and nanosuspensions with amphotericin B: Potent in vitro and in vivo alternatives to Fungizone and AmBisome von Van de Ven, H., Paulussen, C., Feijens, P.B., Matheeussen, A., Rombaut, P., Kayaert, P., Van den Mooter, G., Weyenberg, W., Cos, P., Maes, L., Ludwig, A.

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MLL2 mutation spectrum in 45 patients with Kabuki syndrome von Paulussen, Aimée D.C, Stegmann, Alexander P.A, Blok, Marinus J, Tserpelis, Demis, Posma-Velter, Crool, Detisch, Yvonne, Smeets, Eric E.J.G.L, Wagemans, Annemieke, Schrander, Jaap J.P, van den Boogaard, Marie-José H, van der Smagt, Jasper, van Haeringen, Arie, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Mancini, Grazia M, Wessels, Marja W, Hennekam, Raoul C.M, Vreeburg, Maaike, Geraedts, Joep, de Ravel, Thomy, Fryns, Jean-Pierre, Smeets, Hubert J, Devriendt, Koenraad, Schrander-Stumpel, Constance T.R.M

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Consanguineous couples' experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process von van der Hout, Sanne, Woudstra, Anke J, Dondorp, Wybo, Sallevelt, Suzanne, de Die-Smulders, Christine, Paulussen, Aimee D C, de Wert, Guido

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Anthropometry, carbohydrate and lipid metabolism in the East Flanders Prospective Twin Survey: heritabilities von Souren, N. Y, Paulussen, A. D. C, Loos, R. J. F, Gielen, M, Beunen, G, Fagard, R, Derom, C, Vlietinck, R, Zeegers, M. P

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Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro von Natesan, Senthilkumar A., Bladon, Alex J., Coskun, Serdar, Qubbaj, Wafa, Prates, Renata, Munne, Santiago, Coonen, Edith, Dreesen, Joseph C.F.M., Stevens, Servi J.C., Paulussen, Aimee D.C., Stock-Myer, Sharyn E., Wilton, Leeanda J., Jaroudi, Souraya, Wells, Dagan, Brown, Anthony P.C., Handyside, Alan H.

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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice von Sallevelt, Suzanne C.E.H., Stegmann, Alexander P.A., de Koning, Bart, Velter, Crool, Steyls, Anja, van Esch, Melanie, Lakeman, Phillis, Yntema, Helger, Esteki, Masoud Zamani, de Die-Smulders, Christine E.M., Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G., Paulussen, Aimée D.C.

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Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy von Peltenburg, N Chantal, Leers, Mathie P G, Bakker, Jaap A, Lowe, Selwyn H, Vroemen, Wim H M, Paulussen, Aimée D C, van den Bosch, Bianca J C, Bierau, Jörgen, Verbon, Annelies

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Rare novel variants in the ZIC3 gene cause X-linked heterotaxy von Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence Hj, Krapels, Ingrid P C, Claes, Godelieve Rf, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M, Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G, Smeets, Hubert J M, Bakkers, Jeroen, van den Wijngaard, Arthur

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Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq von Koster, R., Brandão, R. D., Tserpelis, D., van Roozendaal, C. E. P., van Oosterhoud, C. N., Claes, K. B. M., Paulussen, A. D. C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T. R. M., Broen, M. P. G., Spruijt, L., Jongmans, M. C. J., Lesnik Oberstein, S. A. J., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., Derks, K. W. J., Brunner, H. G., van den Wijngaard, A., van Geel, M., Blok, M. J.

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Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome von Roemen, Guido M J M, Theunissen, Tom E J, Hoezen, Ward W J, Steyls, Anja R M, Paulussen, Aimee D C, Mosterd, Klara, Rahikkala, Elisa, Zur Hausen, Axel, Speel, Ernst Jan M, van Geel, Michel

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Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification von Kamps, Rick, Brandão, Rita D, Bosch, Bianca J van den, Paulussen, Aimee D C, Xanthoulea, Sofia, Blok, Marinus J, Romano, Andrea

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Genome sequencing as a generic diagnostic strategy for rare disease von Schobers, Gaby, Derks, Ronny, den Ouden, Amber, Swinkels, Hilde, van Reeuwijk, Jeroen, Bosgoed, Ermanno, Lugtenberg, Dorien, Sun, Su Ming, Corominas Galbany, Jordi, Weiss, Marjan, Blok, Marinus J, Olde Keizer, Richelle A C M, Hofste, Tom, Hellebrekers, Debby, de Leeuw, Nicole, Stegmann, Alexander, Kamsteeg, Erik-Jan, Paulussen, Aimee D C, Ligtenberg, Marjolijn J L, Bradley, Xiangqun Zheng, Peden, John, Gutierrez, Alejandra, Pullen, Adam, Payne, Tom, Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G, Nelen, Marcel, Yntema, Helger G, Vissers, Lisenka E L M

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Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients von Paulussen, Aimée D C, Gilissen, Ronaldus A H J, Armstrong, Martin, Doevendans, Pieter A, Verhasselt, Peter, Smeets, Hubert J M, Schulze-Bahr, Eric, Haverkamp, Wilhelm, Breithardt, Günter, Cohen, Nadine, Aerssens, Jeroen

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Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing von Janssen, Anouk E. J., Koeck, Rebekka M., Essers, Rick, Cao, Ping, van Dijk, Wanwisa, Drüsedau, Marion, Meekels, Jeroen, Yaldiz, Burcu, van de Vorst, Maartje, de Koning, Bart, Hellebrekers, Debby M. E. I., Stevens, Servi J. C., Sun, Su Ming, Heijligers, Malou, de Munnik, Sonja A., van Uum, Chris M. J., Achten, Jelle, Hamers, Lars, Naghdi, Marjan, Vissers, Lisenka E. L. M., van Golde, Ron J. T., de Wert, Guido, Dreesen, Jos C. F. M., de Die-Smulders, Christine, Coonen, Edith, Brunner, Han G., van den Wijngaard, Arthur, Paulussen, Aimee D. C., Zamani Esteki, Masoud

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Erythrocyte inosine triphosphatase activity is decreased in HIV-seropositive individuals von Bierau, Jörgen, Bakker, Jaap A, Schippers, Jolanda A, Grashorn, Janine A C, Lindhout, Martijn, Lowe, Selwyn H, Paulussen, Aimée D C, Verbon, Annelies

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Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease von Vincenten, Sanne C. C., Van Der Stoep, Nienke, Paulussen, Aimée D. C., Mul, Karlien, Badrising, Umesh A., Kriek, Marjolein, Van Der Heijden, Olivier W. H., Van Engelen, Baziel G. M., Voermans, Nicol C., De Die‐Smulders, Christine E. M., Lassche, Saskia

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Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers von Claes, Godelieve R F, van Tienen, Florence H J, Lindsey, Patrick, Krapels, Ingrid P C, Helderman-van den Enden, Apollonia T J M, Hoos, Marije B, Barrois, Yvette E G, Janssen, Johanna W H, Paulussen, Aimée D C, Sels, Jan-Willem E M, Kuijpers, Simone H H, van Tintelen, J Peter, van den Berg, Maarten P, Heesen, Wilfred F, Garcia-Pavia, Pablo, Perrot, Andreas, Christiaans, Imke, Salemink, Simone, Marcelis, Carlo L M, Smeets, Hubert J M, Brunner, Han G, Volders, Paul G A, van den Wijngaard, Arthur

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Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications von Kremer Hovinga, Idske C.L., Giltay, Jacques C., Crabben, Saskia N., Steyls, Anja, Kamp, Hetty J., Paulussen, Aimee D.C.

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