Zobrazeno 1 - 10 of 74 pro vyhledávání: '"Diane, Van Opstal"'
1
Akademický článek
Generation of Trophoblast Organoids from Chorionic Villus Sampling
Autor: Bas van Rijn, Diane Van Opstal, Nicole van Koetsveld, Maarten Knapen, Joost Gribnau, Olivier Schäffers
Publikováno v: Organoids, Vol 3, Iss 1, Pp 54-66 (2024)
Studying human placental development and function presents significant challenges due to the inherent difficulties in obtaining and maintaining placental tissue throughout the course of an ongoing pregnancy. Here, we provide a detailed protocol for g
Externí odkaz: https://doaj.org/article/915fd07a61854dfd85647d755452748e
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2
Akademický článek
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
Autor: Laura J. C. M. van Zutven, Jona Mijalkovic, Monique van Veghel-Plandsoen, Margaret Goense, Marike Polak, Maarten F. C. M. Knapen, Sabina de Weerd, Marieke Joosten, Karin E. M. Diderich, Lies H. Hoefsloot, Diane Van Opstal, Malgorzata I. Srebniak
Publikováno v: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-8 (2023)
Abstract Background Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations. Genome-wide non-invasive prenatal testing (NIPT) in ca
Externí odkaz: https://doaj.org/article/573fec928f5943d997613f1736ffc140
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3
Akademický článek
Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan
Autor: Malgorzata Ilona Srebniak, Maarten F. C. M. Knapen, Marieke Joosten, Karin E. M. Diderich, Sander Galjaard, Diane Van Opstal
Publikováno v: Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-4 (2021)
Abstract Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This study shows how a patient-friendl
Externí odkaz: https://doaj.org/article/6bb8c9def765444cb251c1b4b9f18f31
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4
Akademický článek
Social and medical need for whole genome high resolution NIPT
Autor: Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Lutgarde C. P. Govaerts, Marike Polak, Marieke Joosten, Karin E. M. Diderich, Laura J. C. M. van Zutven, Krista A. K. E. Prinsen, Sam Riedijk, Attie T. J. I. Go, Robert‐Jan H. Galjaard, Lies H. Hoefsloot, Diane Van Opstal
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract 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
Externí odkaz: https://doaj.org/article/d6068b137b094e27a8999c4d69bcc379
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6
Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go?
Autor: Diane Van Opstal, Merryn V. E. Macville, Marjan Boter, Fernanda Sarquis Jehee, Shama Bhola, Malgorzata I. Srebniak, Robert van der Helm, Erik A. Sistermans, Nicolette S. den Hollander, Els Voorhoeve, Mariëtte J.V. Hoffer, Marieke Joosten, Walter G. de Valk
Publikováno v: Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. Wiley
Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. Wiley-Blackwell
Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. WILEY
Srebniak, M I, Jehee, F S, Joosten, M, Boter, M, de Valk, W G, van der Helm, R, Sistermans, E A, Voorhoeve, E, Bhola, S, Hoffer, M J V, den Hollander, N, Macville, M V E & van Opstal, D 2021, ' Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go? ', Acta Obstetricia et Gynecologica Scandinavica, vol. 100, no. 11, pp. 2036-2043 . https://doi.org/10.1111/aogs.14256, https://doi.org/10.1111/aogs.14256
Acta Obstetricia et Gynecologica Scandinavica
Introduction: The presence of an unbalanced familial translocation can be reliably assessed in the cytotrophoblast of chorionic villi. However, carriers of a balanced translocation often decline invasive testing. This study aimed to investigate wheth
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26adf92fc5ff9fc236e95ef8a51ce39c
https://doi.org/10.1111/aogs.14256
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7
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
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
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ae4bf0f35164bb766af6f4fd8ffc0b
https://hdl.handle.net/1765/132863
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8
Akademický článek
False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.
Autor: Diane Van Opstal, Malgorzata I Srebniak, Joke Polak, Femke de Vries, Lutgarde C P Govaerts, Marieke Joosten, Attie T J I Go, Maarten F C M Knapen, Cardi van den Berg, Karin E M Diderich, Robert-Jan H Galjaard
Publikováno v: PLoS ONE, Vol 11, Iss 1, p e0146794 (2016)
Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Since the "fetal" DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological orig
Externí odkaz: https://doaj.org/article/d32d85a83332475e9649de3a20db8fe0
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9
Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review
Autor: Malgorzata I. Srebniak, Olav Bjørn Petersen, Karin E. M. Diderich, Diane Van Opstal, Marike Polak, Maarten F. C. M. Knapen, Caterina M. Bilardo, Eric Smith, Lidia R. Arends, Ida Vogel
Publikováno v: Petersen, O B, Smith, E, Van Opstal, D, Polak, M, Knapen, M F C M, Diderich, K E M, Bilardo, C M, Arends, L R, Vogel, I & Srebniak, M I 2020, ' Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review ', Acta Obstetricia et Gynecologica Scandinavica, vol. 99, no. 6, pp. 765-774 . https://doi.org/10.1111/aogs.13877
Acta Obstetricia et Gynecologica Scandinavica, 99(6), 765-774. Wiley-Blackwell
Acta Obstetricia et Gynecologica Scandinavica
Introduction: Currently fetal nuchal translucency (NT) ≥3.5 mm is an indication for invasive testing often followed by chromosomal microarray. The aim of this study was to assess the risks for chromosomal aberrations in fetuses with an NT 3.0-3.4 m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::178348a4b64eeb8c0b1e1659712cf67e
https://doi.org/10.1111/aogs.13877
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