Resultados da pesquisa - Merryn Macville

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  1. 1
    Advanced-stage cervical carcinomas are defined by a recurrent pattern of chromosomal aberrations revealing high genetic instability and a consistent gain of chromosome arm 3q

    Advanced-stage cervical carcinomas are defined by a recurrent pattern of chromosomal aberrations revealing high genetic instability and a consistent gain of chromosome arm 3q Por Kerstin Heselmeyer, Merryn Macville, Evelin Schröck, Harald Blegen, Ann Hellström, Keerti V. Shah, Gert Auer, Thomas Ried

    Publicado em 1997
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  2. 2
    Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012

    Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012 Por Elke Mersy, Luc Smits, L.A.A.P. van Winden, Christine de Die‐Smulders, Aimée Paulussen, Merryn Macville, A. Coumans, Suzanna G.M. Frints

    Publicado em 2013
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  3. 3
    Identification of Subgroups of High-grade Oligodendroglial Tumors by Comparative Genomic Hybridization

    Identification of Subgroups of High-grade Oligodendroglial Tumors by Comparative Genomic Hybridization Por Judith W. M. Jeuken, Sandra H. E. Sprenger, Pieter Wesseling, Merryn Macville, Andreas von Deimling, Hans L. J. M. Teepen, Jacobus J. van Overbeeke, Rudolf H. Boerman

    Publicado em 1999
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  4. 4
    Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women

    Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women Por Ellis C. Becking, P Scheffer, Jens Henrichs, Caroline J. Bax, Neeltje Crombag, Marjan M. Weiss, Merryn Macville, Diane Van Opstal, Elles M. J. Boon, Erik A. Sistermans, Lidewij Henneman, Ewoud Schuit, Mireille N. Bekker

    Publicado em 2023
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  5. 5
    Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing

    Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing Por Brigitte H. W. Faas, Galuh Astuti, Willem J. G. Melchers, A. Reuss, Christian Gilissen, Merryn Macville, Stijn A.I. Ghesquiere, Leonieke M.H. Houben, Malgorzata I. Srebniak, Geert Geeven, Janette Rahamat‐Langendoen, Erik A. Sistermans, Jasper Linthorst

    Publicado em 2024
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  6. 6
    Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

    Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements Por Claudia M.B. Carvalho, Rolph Pfundt, Daniel A. King, Sarah Lindsay, Luciana W. Zuccherato, Merryn Macville, Pengfei Liu, Diana Johnson, Paweł Stankiewicz, Chester Brown, Chad A. Shaw, Matthew E. Hurles, Grzegorz Ira, P. J. Hastings, Han G. Brunner, James R. Lupski

    Publicado em 2015
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  7. 7
    Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives

    Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives Por Rachèl V. van Schendel, Godelieve C.M.L. Page‐Christiaens, Lean Beulen, Catia M. Bilardo, Marjon A. de Boer, A. Coumans, Brigitte H. W. Faas, Irene M. van Langen, Klaske D. Lichtenbelt, Merel C. van Maarle, Merryn Macville, Dick Oepkes, Eva Pajkrt, Lidewij Henneman

    Publicado em 2016
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  8. 8
    Women's Experience with Non‐Invasive Prenatal Testing and Emotional Well‐being and Satisfaction after Test‐Results

    Women's Experience with Non‐Invasive Prenatal Testing and Emotional Well‐being and Satisfaction after Test‐Results Por Rachèl V. van Schendel, Godelieve C.M.L. Page‐Christiaens, Lean Beulen, Caterina M. Bilardo, Marjon A. de Boer, A. Coumans, Brigitte H. W. Faas, Irene M. van Langen, Klaske D. Lichtenbelt, Merel C. van Maarle, Merryn Macville, Dick Oepkes, Eva Pajkrt, Lidewij Henneman

    Publicado em 2017
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  9. 9
    A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium

    A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium Por Lore Lannoo, Karuna R. M. van der Meij, Mireille N. Bekker, Luc De Catte, Sarah Deckers, Koenraad Devriendt, Nele Roggen, Robert‐Jan H. Galjaard, Janneke T. Gitsels-van der Wal, Merryn Macville, Linda Martin, Erik A. Sistermans, Kristel Van Calsteren, Joachim Van Keirsbilck, Neeltje Crombag, Lidewij Henneman

    Publicado em 2023
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  10. 10
    MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

    MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression Por Suzanna G.M. Frints, Steffen Lenzner, Mareike Bauters, Lars Riff Jensen, Hilde Van Esch, Vincent des Portes, Ute Moog, Merryn Macville, Kees van Roozendaal, C T R M Schrander-Stumpel, Andreas Tzschach, Peter Marynen, Jean‐Pierre Fryns, Ben C.J. Hamel, Hans van Bokhoven, Jamel Chelly, Chérif Beldjord, Gillian Turner, Jozef Gécz, Claude Moraine, Martine Raynaud, Hans Hilger Ropers, Guy Froyen, Andreas W. Kuß

    Publicado em 2008
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  11. 11
    Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

    Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact Por Dick Oepkes, Godelieve C.M.L. Page‐Christiaens, Caroline J. Bax, Mireille N. Bekker, Catia M. Bilardo, Elles M. J. Boon, G. Heleen Schuring‐Blom, A. Coumans, Brigitte H. W. Faas, Robert‐Jan H. Galjaard, Attie T. J. I. Go, Lidewij Henneman, Merryn Macville, Eva Pajkrt, Ron F. Suijkerbuijk, Karin Huijsdens–van Amsterdam, Diane Van Opstal, E. J. T. Verweij, Marjan M. Weiss, Erik A. Sistermans

    Publicado em 2016
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  12. 12
    Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

    Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss Por Rick Essers, И. Н. Лебедев, Ants Kurg, Е. А. Фонова, Servi J.C. Stevens, Rebekka M. Koeck, Ulrike von Rango, Lloyd Brandts, Spyridon Panagiotis Deligiannis, Nikitina Tv, Е. А. Саженова, Е. Н. Толмачева, А. А. Кашеварова, D. A. Fedotov, Viktoria V. Demeneva, Д. И. Жигалина, Г.В. Дроздов, Salwan Al‐Nasiry, Merryn Macville, Arthur van den Wijngaard, Jos Dreesen, Aimée Paulussen, Alexander Hoischen, Han G. Brunner, Andres Salumets, Masoud Zamani Esteki

    Publicado em 2023
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  13. 13
    Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

    Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study Por Catharina J. Heesterbeek, Sietse Aukema, Robert‐Jan H. Galjaard, Elles M. J. Boon, Malgorzata I. Srebniak, Katelijne Bouman, Brigitte H. W. Faas, Lutgarde Govaerts, Mariëtte J.V. Hoffer, Nicolette S. den Hollander, Klaske D. Lichtenbelt, Merel C. van Maarle, Lisanne van Prooyen Schuurman, Maartje C. van Rij, G. Heleen Schuring‐Blom, Servi J.C. Stevens, Gita Tan-Sindhunata, Masoud Zamani Esteki, Christine de Die‐Smulders, Vivianne C. G. Tjan‐Heijnen, Lidewij Henneman, Erik A. Sistermans, Merryn Macville

    Publicado em 2022
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  14. 14
    Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

    Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study Por Diane Van Opstal, Merel C. van Maarle, Klaske D. Lichtenbelt, Marjan M. Weiss, Heleen Schuring‐Blom, Shama L. Bhola, Mariëtte J.V. Hoffer, Karin Huijsdens–van Amsterdam, Merryn Macville, Angelique J. A. Kooper, Brigitte H. W. Faas, Lutgarde Govaerts, Gita Tan-Sindhunata, Nicolette S. den Hollander, Ilse Feenstra, Robert‐Jan H. Galjaard, Dick Oepkes, Stijn A.I. Ghesquiere, Rutger W. W. Brouwer, Lean Beulen, Sander Bollen, Martin Elferink, Roy Straver, Lidewij Henneman, Godelieve C.M.L. Page‐Christiaens, Erik A. Sistermans

    Publicado em 2017
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  15. 15
    Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

    Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita Por Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo, Sébastien Jacquemont, Paulien A. Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordaß, Richard Webster, Margje Sinnema, Omar Abdul‐Rahman, Vanessa Suckow, Alberto Fernández‐Jaén, Kees van Roozendaal, Servi J.C. Stevens, Merryn Macville, Salwan Al‐Nasiry, Koen L.I. van Gassen, N Utzig, Suzanne M. Koudijs, Lesley McGregor, Saskia M. Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S. Lee, Elizabeth C. Engle, Gunnar Houge, Gyri Aasland Gradek, Andrew G. L. Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C. M. Hennekam, Hiromi Hirata, Vera M. Kalscheuer

    Publicado em 2019
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  16. 16
    Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

    Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study Por Lisanne van Prooyen Schuurman, Erik A. Sistermans, Diane Van Opstal, Lidewij Henneman, Mireille N. Bekker, Caroline J. Bax, Mijntje J. Pieters, Katelijne Bouman, Sonja de Munnik, Nicolette S. den Hollander, Karin E. M. Diderich, Brigitte H. W. Faas, Ilse Feenstra, Attie T. J. I. Go, Mariëtte J.V. Hoffer, Marieke Joosten, Fenne L. Komdeur, Klaske D. Lichtenbelt, Maria Lombardi, Marike Polak, Fernanda Sarquis Jehee, Heleen Schuring‐Blom, Servi J.C. Stevens, Malgorzata I. Srebniak, Ron F. Suijkerbuijk, Gita Tan-Sindhunata, Karuna R. M. van der Meij, Merel C. van Maarle, Vivian Vernimmen, Shama L. van Zelderen‐Bhola, Nicolien T. van Ravesteyn, Maarten F. C. M. Knapen, Merryn Macville, Robert‐Jan H. Galjaard

    Publicado em 2022
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  17. 17
    TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

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

    Publicado em 2019
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