Paternal origin of the de novo constitutional t(11;22)(q23;q11)

著者: Ohye, Tamae, Inagaki, Hidehito, Kogo, Hiroshi, Tsutsumi, Makiko, Kato, Takema, Tong, Maoqing, Macville, Merryn V E, Medne, Livija, Zackai, Elaine H, Emanuel, Beverly S, Kurahashi, Hiroki
出版事項 2010

XX Male With Sex Reversal and a De Novo 11;22 Translocation

著者: Macville, Merryn V.E., Loneus, Wim H., Marcus-Soekarman, Dominique, Huys, Erik H.L.P.G., Schoenmakers, Eric F.P.M., Schrank-Hacker, April, Emanuel, Beverly S., Engelen, John J.M.
出版事項 2006

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

著者: 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.
出版事項 2011

Spectral Imaging of Multi-Color Chromogenic Dyes in Pathological Specimens

著者: Macville, Merryn V. E., Van der Laak, Jeroen A. W. M., Speel, Ernst J. M., Katzir, Nir, Garini, Yuval, Soenksen, Dirk, McNamara, George, de Wilde, Peter C. M., Hanselaar, Antonius G. J. M., Hopman, Anton H.N., Ried, Thomas
出版年 Anal Cell Pathol (2001)

Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

著者: Carvalho, Claudia M.B., Pfundt, Rolph, King, Daniel A., Lindsay, Sarah J., Zuccherato, Luciana W., Macville, Merryn V.E., Liu, Pengfei, Johnson, Diana, Stankiewicz, Pawel, Brown, Chester W., Shaw, Chad A., Hurles, Matthew E., Ira, Grzegorz, Hastings, P.J., Brunner, Han G., Lupski, James R.
出版年 Am J Hum Genet (2015)

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives

著者: van Schendel, Rachèl V., Page‐Christiaens, G. C. (Lieve), Beulen, Lean, Bilardo, Catia M., de Boer, Marjon A., Coumans, Audrey B. C., Faas, Brigitte H., van Langen, Irene M., Lichtenbelt, Klaske D., van Maarle, Merel C., Macville, Merryn V. E., Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij
出版年 Prenat Diagn (2016)

Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results

著者: van Schendel, Rachèl V., Page-Christiaens, G. C. M. Lieve, Beulen, Lean, Bilardo, Caterina M., de Boer, Marjon A., Coumans, Audrey B. C., Faas, Brigitte H. W., van Langen, Irene M., Lichtenbelt, Klaske D., van Maarle, Merel C., Macville, Merryn V. E., Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij
出版年 J Genet Couns (2017)

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

著者: Oepkes, Dick, Page‐Christiaens, G. C. (Lieve), Bax, Caroline J., Bekker, Mireille N., Bilardo, Catia M., Boon, Elles M. J., Schuring‐Blom, G. Heleen, Coumans, Audrey B. C., Faas, Brigitte H., Galjaard, Robert‐Jan H., Go, Attie T., Henneman, Lidewij, Macville, Merryn V. E., Pajkrt, Eva, Suijkerbuijk, Ron F., Huijsdens‐van Amsterdam, Karin, Van Opstal, Diane, Verweij, E. J. (Joanne), Weiss, Marjan M., Sistermans, Erik A.
出版年 Prenat Diagn (2016)

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

著者: Frints, Suzanna G.M., Hennig, Friederike, Colombo, Roberto, Jacquemont, Sebastien, Terhal, Paulien, Zimmerman, Holly H., Hunt, David, Mendelsohn, Bryce A., Kordaß, Ulrike, Webster, Richard, Sinnema, Margje, Abdul-Rahman, Omar, Suckow, Vanessa, Fernández-Jaén, Alberto, van Roozendaal, Kees, Stevens, Servi J.C., Macville, Merryn V.E., Al-Nasiry, Salwan, van Gassen, Koen, Utzig, Norbert, Koudijs, Suzanne M., McGregor, Lesley, Maas, Saskia M., Baralle, Diana, Dixit, Abhijit, Wieacker, Peter, Lee, Marcus, Lee, Arthur S., Engle, Elizabeth C., Houge, Gunnar, Gradek, Gyri A., Douglas, Andrew G.L., Longman, Cheryl, Joss, Shelagh, Velasco, Danita, Hennekam, Raoul C., Hirata, Hiromi, Kalscheuer, Vera M.
出版年 Hum Mutat (2019)

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

著者: 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.
出版年 Am J Hum Genet (2019)