A comprehensive gene mutation screen in men with asthenozoospermia von Visser, Liesbeth, M.D., M.Sc, Westerveld, G. Henrike, M.D., Ph.D, Xie, Fang, Ph.D, van Daalen, Saskia K.M., B.Sc, van der Veen, Fulco, M.D., Ph.D, Lombardi, M. Paola, Ph.D, Repping, Sjoerd, Ph.D

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Mortality Risk of Untreated Myosin-Binding Protein C-Related Hypertrophic Cardiomyopathy: Insight Into the Natural History von NANNENBERG, Eline A, MICHELS, Michelle, VAN LANGEN, Irene M, WILDE, Arthur A. M, SIJBRANDS, Eric J. G, CHRISTIAANS, Imke, MAJOOR-KRAKAUER, Danielle, HOEDEMAEKERS, Yvonne M, PETER VAN TINTELEN, J, PAOLA LOMBARDI, M, TEN CATE, Folkert J, SCHINKEL, Arend F. L, TIJSSEN, Jan G. P

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Mortality Risk of Untreated Myosin-Binding Protein C–Related Hypertrophic Cardiomyopathy von Nannenberg, Eline A., MD, Michels, Michelle, MD, PhD, Christiaans, Imke, MD, PhD, Majoor-Krakauer, Danielle, MD, PhD, Hoedemaekers, Yvonne M., MD, PhD, van Tintelen, J. Peter, MD, PhD, Lombardi, M. Paola, PhD, ten Cate, Folkert J., MD, PhD, Schinkel, Arend F.L., MD, PhD, Tijssen, Jan G.P., PhD, van Langen, Irene M., MD, PhD, Wilde, Arthur A.M., MD, PhD, Sijbrands, Eric J.G., MD, PhD

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Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset Phenotypes von van Peer, Sophie E., Kuiper, Roland P., Hol, Janna A., Egging, Sanne, van der Zwaag, Bert, Lilien, Marc R., Lombardi, M. Paola, van den Heuvel-Eibrink, Marry M., Jongmans, Marjolijn C.J.

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Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients: Results From a Multicenter Study von Bhuiyan, Zahurul A, Jongbloed, Jan D.H, van der Smagt, Jasper, Lombardi, Paola M, Wiesfeld, Ans C.P, Nelen, Marcel, Schouten, Meyke, Jongbloed, Roselie, Cox, Moniek G.P.J, van Wolferen, Marleen, Rodriguez, Luz M, van Gelder, Isabelle C, Bikker, Hennie, Suurmeijer, Albert J.H, van den Berg, Maarten P, Mannens, Marcel M.A.M, Hauer, Richard N.W, Wilde, Arthur A.M, van Tintelen, J. Peter

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WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report von Finken, Martijn J.J., Hendriks, Yvonne M.C., van der Voorn, J. Patrick, Veening, Margreet A., Lombardi, M. Paola, Rotteveel, Joost

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Chromosomal region 11p15 is associated with male factor subfertility von Gianotten, Judith, van der Veen, Fulco, Alders, Mariëlle, Leschot, Nico J., Tanck, Michael W.T., Land, Jolande A., Kremer, Jan A.M., Hoefsloot, Lies H., Mannens, Marcel M., Lombardi, M. Paola, Hoffer, Mariëtte J.V.

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Idiopathic impaired spermatogenesis: genetic epidemiology is unlikely to provide a short-cut to better understanding von Gianotten, Judith, Lombardi, M.Paola, Zwinderman, A.H., Lilford, Richard J., van der Veen, Fulco

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Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern von Gianotten, Judith, Westerveld, G.Henrike, Leschot, Nico J., Tanck, Michael W.T., Lilford, Richard J., Lombardi, M.Paola, van der Veen, Fulco

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Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia von Sijbrands, Eric J.G, Westendorp, Rudi G.J, Paola Lombardi, M, Havekes, Louis M, Frants, Rune R, Kastelein, John J.P, Smelt, Augustinus H.M

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Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis von Westerveld, G. Henrike, Repping, Sjoerd, Leschot, Nico J., van der Veen, Fulco, Lombardi, M. Paola

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Absence of mutations in the PCI gene in subfertile men von Gianotten, Judith, Schimmel, Alinda W.M., van der Veen, Fulco, Lombardi, M.Paola, Meijers, Joost C.M.

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Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands von Lombardi, M Paola, Redeker, Egbert Jw, Defesche, Joep C, Kamerling, Sylvia Wa, Trip, Mieke D, Mannens, Marcel Mam, Havekes, Louis M, Kastelein, John Jp

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Similar response to simvastatin in patients heterozygous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations von Sijbrands, Eric J.G, Lombardi, M.Paola, Westendorp, Rudi G.J, Gevers Leuven, Jan A, Meinders, A.Edo, Van der Laarse, Arnoud, Frants, Rune R, Havekes, Louis M, Smelt, Augustinus H.M

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Expression analysis of subtractively enriched libraries (EASEL): a widely applicable approach to the identification of differentially expressed genes von Lombardi, M.Paola, van den Hoff, Maurice J.B., Ruijter, Jan M., Luijerink, Marjanka, Buffing, Anita A., Markman, Marry W., Moorman, Antoon F.M., Lekanne Deprez, Ronald H.

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Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics von PEETERS, A. V, VAN GAAL, L. F, DU PLESSIS, L, LOMBARDI, M. P. R, HAVEKES, L. M, KOTZE, M. J

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CDNA arrays: the ups and downs von Remme, C A, Lombardi, M P, van den Hoff, M J, Lekanne dit Deprez, R H

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High expression of miR-17-5p in tumor epithelium is a predictor for poor prognosis for prostate cancer patients von Stoen, Maria Jenvin, Andersen, S., Rakaee, M., Pedersen, M. I., Ingebriktsen, L. M., Bremnes, R. M., Donnem, T., Lombardi, A. P. G., Kilvaer, T. K., Busund, L. T., Richardsen, E.

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Estrogen Receptors Promote Migration, Invasion and Colony Formation of the Androgen-Independent Prostate Cancer Cells PC-3 Through β-Catenin Pathway von Lombardi, Ana Paola G, Vicente, Carolina M, Porto, Catarina S

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Clinical validation of Xpert MTB/RIF for the diagnosis of extrapulmonary tuberculosis von TORTOLI, Enrico, RUSSO, Cristina, COLTELLA, Luana, LOMBARDI, Giulia, CIRILLO, Daniela M, PIERSIMONI, Claudio, MAZZOLA, Ester, DAL MONTE, Paola, PASCARELLA, Michela, BORRONI, Emanuele, MONDO, Alessandra, PIANA, Federica, SCARPARO, Claudio

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