A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH

por Bhola, Shama L., Nieuwint, Aggie W. M., Stuurman, Kyra E.
Publicado 2018

Genomic amplification of MYC as double minutes in a patient with APL-like leukemia

por Poddighe, Pino J, Wessels, Hans, Merle, Pauline, Westers, Marisa, Bhola, Shama, Loonen, Anne, Zweegman, Sonja, Ossenkoppele, Gert J, Wondergem, Marielle J
Publicado 2014

Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy

por Stuurman, Kyra E., van der Mespel-Brouwer, Marjolein H., Engels, Melanie A. J., Elting, Mariet W., Bhola, Shama L., Meijers-Heijboer, Hanne
Publicado 2021

Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis

por Boormans, Elisabeth M. A., Birnie, Erwin, Hoffer, Mariëtte J. V., Macville, Merryn V. E., Galjaard, Robert-Jan, Schuring-Blom, Gijsbertha H., Bhola, Shama L., Huijsdens, Karin, Smits, Arie, van Lith, Jan M. M.
Publicado 2011

Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

por Boormans, Elisabeth MA, Birnie, Erwin, Wildschut, Hajo I, Schuring-Blom, Heleen G, Oepkes, Dick, van Oppen, Carla AC, Nijhuis, Jan G, Macville, Merryn VE, Kooper, Angelique JA, Huijsdens, Karin, Hoffer, Mariëtte VJ, Go, Attie, Creemers, Johan, Bhola, Shama L, Bilardo, Katia M, Suijkerbuijk, Ron, Bouman, Katelijne, Galjaard, Robert-Jan H, Bonsel, Gouke J, van Lith, Jan MM
Publicado 2008

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

por Van Opstal, Diane, van Maarle, Merel C, Lichtenbelt, Klaske, Weiss, Marjan M, Schuring-Blom, Heleen, Bhola, Shama L, Hoffer, Mariette J V, Huijsdens-van Amsterdam, Karin, Macville, Merryn V, Kooper, Angelique J A, Faas, Brigitte H W, Govaerts, Lutgarde, Tan-Sindhunata, Gita M, den Hollander, Nicolette, Feenstra, Ilse, Galjaard, Robert-Jan H, Oepkes, Dick, Ghesquiere, Stijn, Brouwer, Rutger W W, Beulen, Lean, Bollen, Sander, Elferink, Martin G, Straver, Roy, Henneman, Lidewij, Page-Christiaens, Godelieve C, Sistermans, Erik A
Publicado 2018

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

por van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert-Jan H.
Publicado 2022

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

por van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert-Jan H.
Publicado 2022