Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Lutgarde C.P. Govaerts"'
Autor:
Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen
Publikováno v:
van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, ' Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760 . https://doi.org/10.1016/j.gim.2022.04.010
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INC
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INC
Purpose: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowl
Autor:
Kelly E. Ormond, Sam Riedijk, Malgorzata I. Srebniak, Hennie T. Brüggenwirth, Karin E. M. Diderich, Stina Lou, Melissa Hill, Jennifer Hammond, Celine Lewis, Attie T.J.I. Go, Jasmijn E. Klapwijk, Ida Vogel, Lutgarde C.P. Govaerts
Publikováno v:
Klapwijk, J E, Srebniak, M I, Go, A T J I, Govaerts, L C P, Lewis, C, Hammond, J, Hill, M, Lou, S, Vogel, I, Ormond, K E, Diderich, K E M, Brüggenwirth, H T & Riedijk, S R 2021, ' How to deal with uncertainty in prenatal genomics : A systematic review of guidelines and policies ', Clinical Genetics, vol. 100, no. 6, pp. 647-658 . https://doi.org/10.1111/cge.14010
Clinical Genetics
Clinical Genetics
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important
Autor:
Grazia M.S. Mancini, Kathleen Romijn, Alice S. Brooks, Hennie T. Brüggenwirth, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Lutgarde C.P. Govaerts, Joan N.R. Kromosoeto, Malgorzata I. Srebniak, Robert-Jan H. Galjaard, Marike Polak, Diane Van Opstal, Attie T.J.I. Go, Yolande van Bever, Lies H. Hoefsloot, Marieke Joosten, Martina Wilke, Maarten F. C. M. Knapen, Karin E. M. Diderich
Publikováno v:
Acta Obstetricia et Gynecologica Scandinavica, 100(6), 1-10. Wiley-Blackwell
Acta Obstetricia et Gynecologica Scandinavica
Acta Obstetricia et Gynecologica Scandinavica
IntroductionThe aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results.Materi
Autor:
Geerke M. Eggenhuizen, Karin E. M. Diderich, Nicole van Koetsveld, Attie T.J.I. Go, Malgorzata I. Srebniak, Femke A. T. de Vries, Wai Yee Cheung, Diane Van Opstal, Lutgarde C.P. Govaerts, Walter G. de Valk, Robert-Jan H. Galjaard, Stefanie van Veen, Lies H. Hoefsloot, Maarten F. C. M. Knapen, Marieke Joosten, Marjan Boter, Fernanda Sarquis Jehee, Iris H.I.M. Hollink
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, 40(10), 1338-1342. John Wiley & Sons Ltd.
Prenatal Diagnosis, 40(10), 1338-1342. John Wiley & Sons Ltd.
Autor:
Hennie T. Brüggenwirth, Jasmijn E. Klapwijk, Malgorzata I. Srebniak, Ida Vogel, Sam Riedijk, Jennifer Hammond, Celine Lewis, Kelly E. Ormond, Melissa Hill, Karin E. M. Diderich, Lutgarde C.P. Govaerts, Attie T.J.I. Go, Stina Lou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5a2be65617ab66441cbaa3d378c8a05
https://doi.org/10.1111/cge.14010/v2/response1
https://doi.org/10.1111/cge.14010/v2/response1
Autor:
Diane Van Opstal, Dimitri N.M. Papatsonis, Joke Polak, Lies H. Hoefsloot, Malgorzata I. Srebniak, Karin E. M. Diderich, Krista A. K. E. Prinsen, Marjan Boter, Stefanie van Veen, Nicole van Koetsveld, Marieke Joosten, Lutgarde C.P. Govaerts, Attie T.J.I. Go
Publikováno v:
Prenatal Diagnosis. John Wiley & Sons Ltd.
Prenatal Diagnosis
Prenatal Diagnosis
Objective Placental cytogenetic studies may reveal the origin of discordant noninvasive prenatal testing (NIPT). We performed placental studies to elucidate discordances between NIPT showing a structural chromosome aberration and the fetus having a d
Autor:
Diane Van Opstal, Jasper J. Saris, Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Robert-Jan H. Galjaard, Femke A. T. de Vries, Dimitri N.M. Papatsonis, Stefanie van Veen, Joke Polak, Lies H. Hoefsloot, Karin E. M. Diderich, Attie T.J.I. Go, Robert van de Helm, Marjan Boter, Marieke Joosten, Lutgarde C.P. Govaerts, Anneke Dijkman, Wai Yee Cheung
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, 38(12), 911-919. John Wiley & Sons Ltd.
Prenatal Diagnosis, 38(12), 911-919. John Wiley & Sons Ltd.
Objective Non‐invasive prenatal testing (NIPT) detects placental chromosome aberrations. When amniocentesis reveals a normal karyotype, confined placental mosaicism (CPM) may be assumed. In order to confirm this, placental cytogenetic studies were
Autor:
Marike Polak, Marieke Joosten, Maarten F. C. M. Knapen, Robert-Jan H. Galjaard, Laura J. C. M. van Zutven, Attie T.J.I. Go, Karin E. M. Diderich, Krista A. K. E. Prinsen, Diane Van Opstal, Lutgarde C.P. Govaerts, Lies H. Hoefsloot, Malgorzata I. Srebniak, Sam Riedijk
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, 8(1). John Wiley & Sons Inc.
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Molecular genetics & genomic medicine, 8(1). John Wiley & Sons Inc.
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Background Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray allowing high resolution analysis and noninvasive prenatal testing (NIPT) focusing on aneupl
Autor:
Marjan Boter, Jeroen Knijnenburg, Daniella A.C.M. van Hassel, Malgorzata I. Srebniak, Toon Toolenaar, Attie T.J.I. Go, Anneke Dijkman, Maarten F. C. M. Knapen, Lutgarde C.P. Govaerts, Marieke Joosten, Gido Huijbregts, Roger Heydanus, Diane Van Opstal, Femke A. T. de Vries, Marike Polak, Joan N.R. Kromosoeto, Robert-Jan H. Galjaard, Wilfred F. J. van IJcken, Karin E. M. Diderich
Publikováno v:
Human Mutation, 38(7), 880-888. Wiley-Liss Inc.
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yiel
Autor:
Marieke Joosten, Attie T.J.I. Go, Malgorzata I. Srebniak, M. C. Y. de Wit, Hennie T. Brüggenwirth, Robert-Jan H. Galjaard, D. Van Opstal, K. de Graaff, Lutgarde C.P. Govaerts, F. A. T. de Vries, René F. Kornelisse, S. van Veen, Dimitri N.M. Papatsonis, Maarten F. C. M. Knapen
Publikováno v:
Ultrasound in Obstetrics & Gynecology, 49(3), 342-348. John Wiley & Sons Ltd.
Objective To assess phenotypic and genotypic characteristics of small-for-gestational-age (SGA) fetuses without structural anomalies at 18–24 weeks' gestation. Methods This retrospective study included structurally normal singleton fetuses with an