Search Results - "SMEETS, Dominique F. C. M"

Standardized Multidisciplinary Evaluation Yields Significant Previously Undiagnosed Morbidity in Adult Women with Turner Syndrome by 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

“…Context: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life…”
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Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome by 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

“…We have characterized a de novo balanced translocation t(18;20)(q21.1;q11.2) in a female patient with mild to moderate mental retardation (MR) and minor facial…”
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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 by 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.

“…Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the…”
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Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience by 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

“…Current guidelines indicate that patients with extreme oligozoospermia or azoospermia should be tested for chromosomal imbalances, azoospermia factor (AZF)…”
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Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy by 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.

“…Objectives. Pregnant women, referred because of an increased risk of fetal Down syndrome, who underwent an invasive prenatal procedure were offered a choice…”
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UroVysion Compared with Cytology and Quantitative Cytology in the Surveillance of Non–Muscle-Invasive Bladder Cancer by Moonen, Paula M.J, Merkx, Gerard F.M, Peelen, Pim, Karthaus, Herbert F.M, Smeets, Dominique F.C.M, Witjes, J. Alfred

“…Abstract Objectives The multitarget fluorescence in situ hybridization probe set Vysis UroVysion, consisting of probes for chromosomes 3, 7, and 17 and for the…”
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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 by 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

“…Abstract Turner syndrome (TS) is the result of (partial) X chromosome monosomy. In general, the diagnosis is based on karyotyping of 30 blood lymphocytes. This…”
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Karyotype-Specific Ear and Hearing Problems in Young Adults With Turner Syndrome and the Effect of Oxandrolone Treatment by 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

“…OBJECTIVETo evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment…”
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The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies by Gerkes, Erica H, van der Kevie-Kersemaekers, Anne-Marie F, Yakin, Mariam, Smeets, Dominique F.C.M, van Ravenswaaij-Arts, Conny M.A

“…Abstract Roberts syndrome/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, microcephaly,…”
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TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands by 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.

“…The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This…”
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Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2 by 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

“…Autosomal-recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is mainly characterized by recurrent, often fatal,…”
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Historical prospective of human cytogenetics: from microscope to microarray by Smeets, Dominique F.C.M

“…After the fundamental discovery in 1956 that normal human cells contain 46 chromosomes, clinical cytogenetics was born and studies into the relation of…”
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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 analysis by Kooper, Angelique Ja, Faas, Brigitte Hw, Feenstra, Ilse, de Leeuw, Nicole, Smeets, Dominique Fcm

“…The aim of this study was to evaluate the best diagnostic approach for the genetic analysis of samples from first, second and third trimester intrauterine…”
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Urovysion compared with cytology and quantitative cytology in the surveillance of non-muscle-invasive bladder cancer. Commentary by 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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Familial Syndromic Esophageal Atresia Maps to 2p23-p24 by 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.

“…Esophageal atresia (EA) is a common life-threatening congenital anomaly that occurs in 1/3,000 newborns. Little is known of the genetic factors that underlie…”
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Establishment and characterization of a human melanoma cell line (MV3) which is highly metastatic in nude mice by van Muijen, G N, Jansen, K F, Cornelissen, I M, Smeets, D F, Beck, J L, Ruiter, D J

“…To select human melanoma cells that are highly tumorigenic and metastatic in nude mice we have implanted fragments of a fresh human melanoma metastasis…”
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Absence of karyotype abnormalities in patients with familial urothelial cell carcinoma by Aben, Katja K.H, Macville, Merryn V.E, Smeets, Dominique F.C.M, Schoenberg, Mark P, Witjes, J.Alfred, Kiemeney, Lambertus A.L.M

“…Objectives. In a previous pilot study, a constitutional balanced translocation t(5;20)(p15;q11) was identified in a family with urothelial cell carcinoma…”
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A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia by 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

“…Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, elevated alpha-fetoprotein…”
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Frequent occurrence of translocations of the short arm of chromosome 15 to other D-group chromosomes by Smeets, D F, Merkx, G F, Hopman, A H

“…The presence of DA/DAPI (distamycin A/4,6-diamino-2-phenyl-indole) heteromorphism on the short arm of human acrocentric chromosomes was investigated in 127…”
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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 by 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

“…The use of non-radioactive in situ hybridization (ISH) with chromosome-specific repetitive DNA probes to study genomic changes, aneuploidy, and heterogeneity…”
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