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...

Tekijä Kooper, Angelique JA, Faas, Brigitte HW, Feenstra, Ilse, de Leeuw, Nicole, Smeets, Dominique FCM
Julkaistu 2014

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

Tekijä Winnepenninckx, Birgitta , Debacker, Kim , Ramsay, Jacqueline , Smeets, Dominique , Smits, Arie , FitzPatrick, David R. , Kooy, R. Frank 
Julkaistu 2007

Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on...

Tekijä Hehir-Kwa, Jayne Y., Egmont-Petersen, Michael, Janssen, Irene M., Smeets, Dominique, van Kessel, Ad Geurts, Veltman, Joris A.
Julkaistu 2007

Ovarian follicles of young patients with Turner’s syndrome contain normal oocytes but monosomic 45,X granulosa cells

Tekijä Peek, Ronald, Schleedoorn, Myra, Smeets, Dominique, van de Zande, Guillaume, Groenman, Freek, Braat, Didi, van der Velden, Janielle, Fleischer, Kathrin
Julkaisussa Hum Reprod (2019)

High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization

Tekijä Veltman, Joris A., Schoenmakers, Eric F. P. M., Eussen, Bert H., Janssen, Irene, Merkx, Gerard, van Cleef, Brigitte, van Ravenswaaij, Conny M., Brunner, Han G., Smeets, Dominique, van Kessel, Ad Geurts
Julkaistu 2002

Androgen receptor signalling confers clonogenic and migratory advantages in urothelial cell carcinoma of the bladder

Tekijä Luna‐Velez, Maria V., Dijkstra, Jelmer J., Heuschkel, Marina A., Smit, Frank P., van de Zande, Guillaume, Smeets, Dominique, Sedelaar, J. P. Michiel, Vermeulen, Michiel, Verhaegh, Gerald W., Schalken, Jack A.
Julkaisussa Mol Oncol (2021)

Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy

Tekijä 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.
Julkaistu 2013

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

Tekijä Mundhofir, Farmaditya E. P., Nillesen, Willy M., Van Bon, Bregje W. M., Smeets, Dominique, Pfundt, Rolph, van de Ven-Schobers, Gaby, Ruiterkamp-Versteeg, Martina, Winarni, Tri I., Hamel, Ben C. J., Yntema, Helger G., Faradz, Sultana M. H.
Julkaistu 2013

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Tekijä 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.
Julkaistu 2000

Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

Tekijä Veltman, Joris A., Jonkers, Yvonne, Nuijten, Inge, Janssen, Irene, van der Vliet, Walter, Huys, Erik, Vermeesch, Joris, Van Buggenhout, Griet, Fryns, Jean-Pierre, Admiraal, Ronald, Terhal, Paulien, Lacombe, Didier, van Kessel, Ad Geurts, Smeets, Dominique, Schoenmakers, Eric F. P. M., van Ravenswaaij-Arts, Conny M.
Julkaistu 2003

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

Tekijä Mukhopadhyay, Arijit, Kramer, Jamie M., Merkx, Gerard, Lugtenberg, Dorien, Smeets, Dominique F., Oortveld, Merel A. W., Blokland, Ellen A. W., Agrawal, Jyoti, Schenck, Annette, van Bokhoven, Hans, Huys, Erik, Schoenmakers, Eric F., van Kessel, Ad Geurts, van Nouhuys, C. Erik, Cremers, Frans P. M.
Julkaistu 2010

Diagnostic Genome Profiling in Mental Retardation

Tekijä de Vries, Bert B. A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E. L. M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H. L. P. G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M. A., van Kessel, Ad Geurts, Schoenmakers, Eric F. P. M., Brunner, Han G., Veltman, Joris A.
Julkaistu 2005

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

Tekijä Vissers, Lisenka E. L. M. , de Vries, Bert B. A. , Osoegawa, Kazutoyo , Janssen, Irene M. , Feuth, Ton , Choy, Chik On , Straatman, Huub , van der Vliet, Walter , Huys, Erik H. L. P. G. , van Rijk, Anke , Smeets, Dominique , van Ravenswaaij-Arts, Conny M. A. , Knoers, Nine V. , van der Burgt, Ineke , de Jong, Pieter J. , Brunner, Han G. , van Kessel, Ad Geurts , Schoenmakers, Eric F. P. M. , Veltman, Joris A. 
Julkaistu 2003

Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

Tekijä de Greef, Jessica C., Wang, Jun, Balog, Judit, den Dunnen, Johan T., Frants, Rune R., Straasheijm, Kirsten R., Aytekin, Caner, van der Burg, Mirjam, Duprez, Laurence, Ferster, Alina, 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., Lankester, Arjan C., van Tol, Maarten J.D., van den Elsen, Peter J., Weemaes, Corry M., van der Maarel, Silvère M.
Julkaistu 2011

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Tekijä 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.
Julkaisussa Am J Hum Genet (2019)