Standardized Multidisciplinary Evaluation Yields Significant Previously Undiagnosed Morbidity in Adult Women with Turner Syndrome von Freriks, Kim, Timmermans, Janneke, Beerendonk, Catharina C. M, Verhaak, Chris M, Netea-Maier, Romana T, Otten, Barto J, Braat, Didi D. M, Smeets, Dominique F. C. M, Kunst, Dirk H. P. M, Hermus, Ad R. M. M, Timmers, Henri J. L. M

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Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia von Oud, Manon S., Ramos, Liliana, O'Bryan, Moira K., McLachlan, Robert I., Okutman, Özlem, Viville, Stephane, Vries, Petra F., Smeets, Dominique F.C.M., Lugtenberg, Dorien, Hehir‐Kwa, Jayne Y., Gilissen, Christian, de Vorst, Maartje, Vissers, Lisenka E.L.M., Hoischen, Alexander, Meijerink, Aukje M., Fleischer, Kathrin, Veltman, Joris A., Noordam, Michiel J.

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Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome von Kalscheuer, Vera M., Feenstra, Ilse, Van Ravenswaaij-Arts, Conny M.A., Smeets, Dominique F.C.M., Menzel, Corinna, Ullmann, Reinhard, Musante, Luciana, Ropers, Hans-Hilger

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Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience von Oud, Manon S, de Leeuw, Nicole, Smeets, Dominique F C M, Ramos, Liliana, van der Heijden, Godfried W, Timmermans, Raoul G J, van de Vorst, Maartje, Hofste, Tom, Kempers, Marlies J E, Stokman, Marijn F, D'Hauwers, Kathleen W M, Faas, Brigitte H W, Westra, Dineke

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UroVysion Compared with Cytology and Quantitative Cytology in the Surveillance of Non–Muscle-Invasive Bladder Cancer von Moonen, Paula M.J, Merkx, Gerard F.M, Peelen, Pim, Karthaus, Herbert F.M, Smeets, Dominique F.C.M, Witjes, J. Alfred

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Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome von Freriks, Kim, Timmers, Henri J.L.M, Netea-Maier, Romana T, Beerendonk, Catharina C.M, Otten, Barto J, van Alfen-van der Velden, Janiëlle A.E.M, Traas, Maaike A.F, Mieloo, Hanneke, van de Zande, Guillaume W.H.J.F.L, Hoefsloot, Lies H, Hermus, Ad R.M.M, Smeets, Dominique F.C.M

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TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands von van der Meij, Karuna R.M., Sistermans, Erik A., Macville, Merryn V.E., Stevens, Servi J.C., Bax, Caroline J., Bekker, Mireille N., Bilardo, Caterina M., Boon, Elles M.J., Boter, Marjan, Diderich, Karin E.M., de Die-Smulders, Christine E.M., Duin, Leonie K., Faas, Brigitte H.W., Feenstra, Ilse, Haak, Monique C., Hoffer, Mariëtte J.V., den Hollander, Nicolette S., Hollink, Iris H.I.M., Jehee, Fernanda S., Knapen, Maarten F.C.M., Kooper, Angelique J.A., van Langen, Irene M., Lichtenbelt, Klaske D., Linskens, Ingeborg H., van Maarle, Merel C., Oepkes, Dick, Pieters, Mijntje J., Schuring-Blom, G. Heleen, Sikkel, Esther, Sikkema-Raddatz, Birgit, Smeets, Dominique F.C.M., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Ven, A. Jeanine E.M., van Zelderen-Bhola, Shama L., Henneman, Lidewij, Galjaard, Robert-Jan H., Van Opstal, Diane, Weiss, Marjan M.

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Karyotype-Specific Ear and Hearing Problems in Young Adults With Turner Syndrome and the Effect of Oxandrolone Treatment von Verver, Eva J J, Freriks, Kim, Sas, Theo C J, Huygen, Patrick L M, Pennings, Ronald J E, Smeets, Dominique F. C M, Hermus, Ad R. M M, Menke, Leonie A, Wit, Jan M, Otten, Barto J, van Alfen–van der Velden, Janiëlle A. E M, de Muinck Keizer–Schrama, Sabine M. P F, Topsakal, Vedat, Admiraal, Ronald J C, Timmers, Henri J. L M, Kunst, Henricus P M

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Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy von Kooper, Angelique J. A., Smeets, Dominique F. C. M., Feenstra, Ilse, Wijnberger, Lia D. E., Rijnders, Robbert J. P., Quartero, Rik W. P., Boekkooi, Peter F., van Vugt, John M. G., Smits, Arie P. T.

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The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies von Gerkes, Erica H, van der Kevie-Kersemaekers, Anne-Marie F, Yakin, Mariam, Smeets, Dominique F.C.M, van Ravenswaaij-Arts, Conny M.A

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Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2 von DE GREEF, Jessica C, JUN WANG, GENNERY, Andrew R, GIMELLI, Giorgio, REISLI, Ismail, SCHUETZ, Catharina, SCHULZ, Ansgar, SMEETS, Dominique F. C. M, SZNAJER, Yves, WIJMENGA, Cisca, VAN EGGERMOND, Marja C, VAN OSTAIJEN-TEN DAM, Monique M, BALOG, Judit, LANKESTER, Arjan C, VAN TOL, Maarten J. D, VAN DEN ELSEN, Peter J, WEEMAES, Corry M, VAN DER MAAREL, Silvere M, DEN DUNNEN, Johan T, FRANTS, Rune R, STRAASHEIJM, Kirsten R, AYTEKIN, Caner, VAN DER BURG, Mirjam, DUPREZ, Laurence, FERSTER, Alina

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Historical prospective of human cytogenetics: from microscope to microarray von Smeets, Dominique F.C.M

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Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analys... von Kooper, Angelique Ja, Faas, Brigitte Hw, Feenstra, Ilse, de Leeuw, Nicole, Smeets, Dominique Fcm

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Familial Syndromic Esophageal Atresia Maps to 2p23-p24 von Celli, Jacopo, van Beusekom, Ellen, Hennekam, Raoul C.M., Gallardo, M. Esther, Smeets, Dominique F.C.M., de Córdoba, Santiago Rodríguez, Innis, Jeffrey W., Frydman, Moshe, König, Rainer, Kingston, Helen, Tolmie, John, Govaerts, Lutgarde C.P., van Bokhoven, Hans, Brunner, Han G.

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Urovysion compared with cytology and quantitative cytology in the surveillance of non-muscle-invasive bladder cancer. Commentary von MOONEN, Paula M. J, MERKX, Gerard F. M, PEELEN, Pim, KARTHAUS, Herbert F. M, SMEETS, Dominique F. C. M, WITJES, J. Alfred, VAN RHIJN, Bas W. G

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Establishment and characterization of a human melanoma cell line (MV3) which is highly metastatic in nude mice von van Muijen, Goos N. P., Jansen, Kees F. J., Cornelissen, Ine M. H. A., Smeets, Dominique F. C. M., Beck, Johan L. M., Ruiter, Dirk J.

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Absence of karyotype abnormalities in patients with familial urothelial cell carcinoma von Aben, Katja K.H, Macville, Merryn V.E, Smeets, Dominique F.C.M, Schoenberg, Mark P, Witjes, J.Alfred, Kiemeney, Lambertus A.L.M

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A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia von VAN BELZEN, M. J, HIEL, J. A. P, WEEMAES, C. M. R, GABREËLS, F. J. M, VAN ENGELEN, B. G. M, SMEETS, D. F. C. M, VAN DEN HEUVEL, L. P. W. J

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Frequent occurrence of translocations of the short arm of chromosome 15 to other D-group chromosomes von Smeets, D F, Merkx, G F, Hopman, A H

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In Situ Detection of Supernumerary Aberrations of Chromosome-Specific Repetitive DNA Targets in Interphase Nuclei in Human Melanoma Cell Lines and Tissue Sections von de Wit, Peter E J, Hopman, Anton H N, van Muijen, Goos N P, Smeets, Dominique F C M, Beck, Johan L M, Moesker, Olof, Ruiter, Dirk J

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