A comprehensive gene mutation screen in men with asthenozoospermia
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
Published in Fertility and sterility (01.03.2011)
Published in Fertility and sterility (01.03.2011)
Get full text
Journal Article
Mortality Risk of Untreated Myosin-Binding Protein C-Related Hypertrophic Cardiomyopathy: Insight Into the Natural History
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
Published in Journal of the American College of Cardiology (29.11.2011)
Published in Journal of the American College of Cardiology (29.11.2011)
Get full text
Journal Article
Mortality Risk of Untreated Myosin-Binding Protein C–Related Hypertrophic Cardiomyopathy
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
Published in Journal of the American College of Cardiology (01.11.2011)
Published in Journal of the American College of Cardiology (01.11.2011)
Get full text
Journal Article
Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients: Results From a Multicenter Study
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
Published in Circulation. Cardiovascular genetics (01.10.2009)
Published in Circulation. Cardiovascular genetics (01.10.2009)
Get full text
Journal Article
Chromosomal region 11p15 is associated with male factor subfertility
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.
Published in Molecular human reproduction (01.10.2003)
Published in Molecular human reproduction (01.10.2003)
Get full text
Journal Article
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report
Finken, Martijn J.J., Hendriks, Yvonne M.C., van der Voorn, J. Patrick, Veening, Margreet A., Lombardi, M. Paola, Rotteveel, Joost
Published in Hormone research in paediatrics (01.01.2015)
Published in Hormone research in paediatrics (01.01.2015)
Get full text
Journal Article
Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern
Gianotten, Judith, Westerveld, G.Henrike, Leschot, Nico J., Tanck, Michael W.T., Lilford, Richard J., Lombardi, M.Paola, van der Veen, Fulco
Published in Human reproduction (Oxford) (01.01.2004)
Published in Human reproduction (Oxford) (01.01.2004)
Get full text
Journal Article
Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia
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
Published in Atherosclerosis (01.04.2000)
Published in Atherosclerosis (01.04.2000)
Get full text
Journal Article
Absence of mutations in the PCI gene in subfertile men
Gianotten, Judith, Schimmel, Alinda W.M., van der Veen, Fulco, Lombardi, M.Paola, Meijers, Joost C.M.
Published in Molecular human reproduction (01.11.2004)
Published in Molecular human reproduction (01.11.2004)
Get full text
Journal Article
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands
Lombardi, M Paola, Redeker, Egbert Jw, Defesche, Joep C, Kamerling, Sylvia Wa, Trip, Mieke D, Mannens, Marcel Mam, Havekes, Louis M, Kastelein, John Jp
Published in Clinical genetics (01.02.2000)
Published in Clinical genetics (01.02.2000)
Get full text
Journal Article
Expression analysis of subtractively enriched libraries (EASEL): a widely applicable approach to the identification of differentially expressed genes
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.
Published in Journal of biochemical and biophysical methods (31.07.2003)
Published in Journal of biochemical and biophysical methods (31.07.2003)
Get full text
Journal Article
Similar response to simvastatin in patients heterozygous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations
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
Published in Atherosclerosis (01.02.1998)
Published in Atherosclerosis (01.02.1998)
Get full text
Journal Article
CDNA arrays: the ups and downs
Remme, C A, Lombardi, M P, van den Hoff, M J, Lekanne dit Deprez, R H
Published in Cardiovascular drugs and therapy (01.03.2001)
Published in Cardiovascular drugs and therapy (01.03.2001)
Get full text
Journal Article
Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate
Lombardi, M P, Redeker, E J W, van Gent, D H M, Smeele, K L, Weerdesteijn, R, Mannens, M M A M
Published in Genetic testing (01.06.2006)
Published in Genetic testing (01.06.2006)
Get more information
Journal Article