Výsledky vyhledávání - Ilse Feenstra

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  1. 1
    Clinical utility of non‐invasive prenatal testing in pregnancies with ultrasound anomalies

    Clinical utility of non‐invasive prenatal testing in pregnancies with ultrasound anomalies Autor Lean Beulen, Brigitte H. W. Faas, Ilse Feenstra, J. M. G. van Vugt, Mireille N. Bekker

    Vydáno 2016
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  2. 2
    The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial

    The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial Autor Lean Beulen, M. van den Berg, Brigitte H. W. Faas, Ilse Feenstra, Michiel Hageman, J. M. van Vugt, Mireille N. Bekker

    Vydáno 2016
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  3. 3
    1 in 38 individuals at risk of a dominant medically actionable disease

    1 in 38 individuals at risk of a dominant medically actionable disease Autor Lonneke Haer‐Wigman, Vyne van der Schoot, Ilse Feenstra, Anneke T. Vulto‐van Silfhout, Christian Gilissen, Han G. Brunner, Lisenka E.L.M. Vissers, Helger G. Yntema

    Vydáno 2018
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  4. 4
    Erratum: Guidelines for diagnostic next-generation sequencing

    Erratum: Guidelines for diagnostic next-generation sequencing Autor Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    Vydáno 2016
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  5. 5
    European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities

    European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities Autor Ilse Feenstra, Jiayi Fang, David A. Koolen, A. Siezen, C. R. Evans, R M Winter, Melissa Lees, Mariluce Riegel, Bert B.A. de Vries, Conny M.A. van Ravenswaaij, Albert Schinzel

    Vydáno 2005
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  6. 6
    Guidelines for diagnostic next-generation sequencing

    Guidelines for diagnostic next-generation sequencing Autor Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    Vydáno 2015
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  7. 7
    <i>TRIO</i>loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

    <i>TRIO</i>loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function Autor Wei Ba, Yan Yan, Margot R.F. Reijnders, Janneke Schuurs-Hoeijmakers, Ilse Feenstra, Ernie M.H.F. Bongers, Daniëlle G.M. Bosch, Nicole de Leeuw, Rolph Pfundt, Christian Gilissen, Petra F. de Vries, Joris A. Veltman, Alexander Hoischen, Heather C. Mefford, Evan E. Eichler, Lisenka E.L.M. Vissers, Nael Nadif Kasri, Bert B.A. de Vries

    Vydáno 2015
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  8. 8
    Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

    Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging Autor Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, Christian Gilissen, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Brigitte H. W. Faas, Thatjana Gardeitchik, Suzanne C.E.H. Sallevelt, Aimée Paulussen, Servi J.C. Stevens, Esther Sikkel, Mariet W. Elting, Merel C. van Maarle, Karin E. M. Diderich, Nicole Corsten‐Janssen, Klaske D. Lichtenbelt, Guus Lachmeijer, Lisenka E.L.M. Vissers, Helger G. Yntema, Marcel Nelen, Ilse Feenstra, Wendy A.G. van Zelst–Stams

    Vydáno 2020
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  9. 9
    MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

    MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse Autor Mieke Wesdorp, Silvia Murillo‐Cuesta, Theo Peters, Adelaida M. Celaya, Anne M.M. Oonk, Margit Schraders, Jaap Oostrik, Elena Gómez-Rosas, Andy J. Beynon, Bas P. Hartel, Kees Okkersen, Hans J. P. M. Koenen, Jack Weeda, Stefan H. Lelieveld, Nicol C. Voermans, Irma Joosten, Carel B. Hoyng, Peter Lichtner, Henricus P. M. Kunst, Ilse Feenstra, Suzanne E. de Bruijn, R.J.C. Admiraal, Helger G. Yntema, Erwin van Wijk, Ignacio del Castillo, Pau Serra, Isabel Varela‐Nieto, Ronald J. E. Pennings, Hannie Kremer, M. F. van Dooren, H.H.W. de Gier, E. H. Hoefsloot, Marc P. van der Schroeff, Sarina G. Kant, Liselotte J. C. Rotteveel, Suzanna G.M. Frints, J.R. Hof, Robert J. Stokroos, Els K. Vanhoutte, R.J.C. Admiraal, Ilse Feenstra, Hannie Kremer, Henricus P. M. Kunst, Ronald J. E. Pennings, Helger G. Yntema, A.J. van Essen, Rolien H. Free, J.S. Klein-Wassink

    Vydáno 2018
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  10. 10
    Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

    Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6 Autor Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, Tanja Wittkampf, Marcel du Moulin, Jacqueline Stella, Martine Le Merrer, Geneviève Guest, Karen Lambot, Marie-Frederique Tazarourte-Pinturier, Nicolas Chassaing, Olivier Roche, Ilse Feenstra, Karen J. Loechner, Charu Deshpande, Samuel J. Garber, Rashmi Chikarmane, Beat Steinmann, Tatevik Shahinyan, Loreto Martorell, Justin H. Davies, Wendy E. Smith, Stephen G. Kahler, Mignon McCulloch, Elizabeth Wraige, Lourdes Loidi, Wolfgang Höhne, Ludovic Martin, S. Hadj‐Rabia, Robert Terkeltaub, Frank Rutsch

    Vydáno 2011
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  11. 11
    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 Autor 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

    Vydáno 2017
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  12. 12
    A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

    A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases Autor Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Lies H. Hoefsloot, Erik‐Jan Kamsteeg, Arjen R. Mensenkamp, Richard J. Rodenburg, Helger G. Yntema, Liesbeth Spruijt, Sascha Vermeer, Tuula Rinne, Koen L.I. van Gassen, Daniëlle Bodmer, Dorien Lugtenberg, Rick de Reuver, Wendy Buijsman, Ronny Derks, Nienke Wieskamp, Bert van den Heuvel, Marjolijn J. L. Ligtenberg, Hannie Kremer, David A. Koolen, Bart P.C. van de Warrenburg, Frans P.M. Cremers, Carlo Marcelis, Jan Smeitink, Saskia B. Wortmann, Wendy A.G. van Zelst–Stams, Joris A. Veltman, Han G. Brunner, Hans Scheffer, Marcel Nelen

    Vydáno 2013
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  13. 13
    The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

    The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands Autor Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y. Hehir‐Kwa, Stefan H. Lelieveld, Steven Castelein, Christian Gilissen, Ilse J. de Wijs, R.J.C. Admiraal, Ronald J. E. Pennings, Henricus P. M. Kunst, Jiddeke M. van de Kamp, Saskia Tamminga, Arjan C. Houweling, Astrid S. Plomp, Saskia M. Maas, Pia AM de Koning Gans, Sarina G. Kant, Christa M. de Geus, Suzanna G.M. Frints, Els K. Vanhoutte, Marieke F. van Dooren, Marie- José H van den Boogaard, Hans Scheffer, Marcel Nelen, Hannie Kremer, Lies H. Hoefsloot, Margit Schraders, Helger G. Yntema

    Vydáno 2016
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  14. 14
    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 Autor 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

    Vydáno 2022
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  15. 15
    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 Autor 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

    Vydáno 2019
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  16. 16
    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins Autor Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari, Kadir C. Akdemir, Shalini N. Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A. Yatsenko, Jessica Sebastian, Suneeta Madan‐Khetarpal, Urvashi Surti, Rosanna Abellar, David Bateman, Ashley Wilson, Melinda H. Markham, Jill Slamon, Fernando Santos‐Simarro, María Palomares‐Bralo, Julián Nevado, Pablo Lapunzina, Brian Hon‐Yin Chung, Wai-Lap Wong, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Eitan Kerem, Joel Reiter, Namasivayam Ambalavanan, Scott Anderson, David R. Kelly, Joseph T.C. Shieh, Taryn C. Rosenthal, Kristin Scheible, Laurie A. Steiner, M. Anwar Iqbal, Margaret L. McKinnon, Sara Hamilton, Kamilla Schlade‐Bartusiak, D. W. English, Glenda Hendson, Elizabeth Roeder, Thomas S. DeNapoli, Rebecca O. Littlejohn, Daynna J. Wolff, Carol L. Wagner, Alison Yeung, David Francis, Elizabeth K. Fiorino, Morris Edelman, Joyce E. Fox, Denise A. Hayes, Sandra Janssens, Elfride De Baere, Björn Menten, Anne Loccufier, Lieve Vanwalleghem, Philippe Moerman, Yves Sznajer, Amy S. Lay, Jennifer Kussmann, Jasneek Chawla, Diane Payton, Gael E. Phillips, Erwin Brosens, Dick Tibboel, Annelies de Klein, Isabelle Maystadt, Richard Fisher, Neil J. Sebire, Alison Male, Maya Chopra, Jason Pinner, Girvan Malcolm, Gregory B. Peters, Susan Arbuckle, Melissa Lees, Zoe Mead, Oliver Quarrell, Richard Sayers, Martina Owens, Charles Shaw‐Smith, Janet Lioy, Eileen McKay, Nicole de Leeuw, Ilse Feenstra, Liesbeth Spruijt, Frances Elmslie, Timothy Thiruchelvam, Carlos A. Bacino, Claire Langston, James R. Lupski, Partha Sen, Edwina J. Popek, Paweł Stankiewicz

    Vydáno 2016
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  17. 17
    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP Autor Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M.S. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije Meuwissen, Geert Vandeweyer, R. Frank Kooy, Madhura Bakshi, Meredith Wilson, Yemina Berman, Rebecca Dickson, Erik Fransén, Céline Helsmoortel, Jenneke van den Ende, Nathalie Van der Aa, Marina J. van de Wijdeven, Jessica Rosenblum, Fabíola Paoli Monteiro, Fernando Kok, Nada Quercia, Sarah Bowdin, David A. Dyment, David Chitayat, Ebba Alkhunaizi, Susanne E. Boonen, Boris Keren, Aurélia Jacquette, Laurence Faivre, Stéphane Bézieau, Bertrand Isidor, Angelika Rieß, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Madeleine Fannemel, Arie van Haeringen, Saskia M. Maas, Hermine E. Veenstra‐Knol, Meyke Schouten, Marjolein H. Willemsen, Carlo Marcelis, Charlotte W. Ockeloen, Ineke van der Burgt, Ilse Feenstra, Jasper van der Smagt, Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Domingo González‐Lamuño, Britt‐Marie Anderlid, Helena Malmgren, Magnus Nordenskjöld, Emma Clement, Jane A. Hurst, Kay Metcalfe, Sahar Mansour, Katherine Lachlan, Jill Clayton‐Smith, Laura G. Hendon, Omar Abdul‐Rahman, Eric M. Morrow, Clare McMillan, Jennifer Gerdts, Joseph Peeden, Samantha A. Schrier Vergano, Caitlin Valentino, Wendy K. Chung, Jillian R. Ozmore, Sandra Bedrosian‐Sermone, Anna Dennis, Kayla Treat, Susan Hughes, Nicole P. Safina, Jean‐Baptiste Le Pichon, Marianne McGuire, Elena Infante, Suneeta Madan‐Khetarpal, Sonal Desai, Paul J. Benke, Alyson Krokosky, Ingrid Cristian, Laura Baker, Karen W. Gripp, Holly A.F. Stessman, Jacob A. Eichenberger, Parul Jayakar

    Vydáno 2018
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