Zobrazeno 1 - 10 of 124 pro vyhledávání: '"R.F. Suijkerbuijk"'
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Akademický článek
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Akademický článek
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3
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound
Autor: Nicole Corsten-Janssen, Rolf H. Sijmons, R.F. Suijkerbuijk, Helga Westers, A. J. Scheper, Joke B. G. M. Verheij, J. el Mecky, Birgit Sikkema-Raddatz, Katelijne Bouman, R. Kinds, G. T. R. Manten, I. M. van Langen, C. C. van Diemen, L. K. Duin, J. C. D. Diphoorn, H. Breet
Publikováno v: Prenatal Diagnosis
Prenatal Diagnosis, 40(10), 1300-1309. Wiley-Blackwell
Objective: Conventional genetic tests (quantitative fluorescent-PCR [QF-PCR] and single nucleotide polymorphism-array) only diagnose similar to 40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f2a162f98268f86ad449567add6a975
https://doi.org/10.1002/pd.5781
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4
A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin
Autor: Conny M. A. van Ravenswaaij-Arts, Audrey Lo Fo Sang, R.F. Suijkerbuijk, Santusha Bihari, Magda McGregor-Schuerman, Natasja Ramdajal
Publikováno v: European journal of medical genetics, 63(6):103922. ELSEVIER SCIENCE BV
Aneuploidy mosaicism involving two complementary different autosomal trisomy cell lines is extremely rare. Although a mosaic double trisomy 8/trisomy 21 has been described in literature, this is the first report of Warkany (+8)-Down (+21) syndrome du
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7987e60412e7dfcb6ee3d796def2dbf
https://doi.org/10.1016/j.ejmg.2020.103922
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Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing
Autor: Birgit Sikkema-Raddatz, Richard J. Sinke, F. van Dijk, Lennart Johansson, Morris A. Swertz, G H Schuring-Blom, Rolf H. Sijmons, R.F. Suijkerbuijk, G. J. Te Meerman, H. de Weerd, Martin G Elferink, E. N. de Boer
Publikováno v: Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Scientific Reports, 7(1):1838. Nature Publishing Group
Scientific Reports, 7(1). Nature Publishing Group
Scientific Reports
Non-invasive prenatal testing (NIPT) of cell-free DNA in maternal plasma, which is a mixture of maternal DNA and a low percentage of fetal DNA, can detect fetal aneuploidies using massively parallel sequencing. Because of the low percentage of fetal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::072d732860cea07fec74789cf1a320cf
https://doaj.org/article/50fe59706dee446cb5379772bb6c48fa
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NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results
Autor: Eddy N. de Boer, Gerard J. te Meerman, C. M. Bilardo, Lennart Johansson, Katelijne Bouman, Birgit Sikkema-Raddatz, Irene M. van Langen, Richard J. Sinke, Elles M. J. Boon, Morris A. Swertz, R.F. Suijkerbuijk, Martijn Dijkstra
Publikováno v: Scientific Reports, 6:38359. Nature Publishing Group
Scientific Reports
Sikkema-Raddatz, B, Johansson, L F, De Boer, E N, Boon, E M J, Suijkerbuijk, R F, Bouman, K, Bilardo, C M, Swertz, M A, Dijkstra, M, Van Langen, I M, Sinke, R J & Te Meerman, G J 2016, ' NIPTRIC : An online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results ', Scientific Reports, vol. 6, 38359 . https://doi.org/10.1038/srep38359
To properly interpret the result of a pregnant woman’s non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e862bb6110faa175e959be5c9422928
https://research.rug.nl/en/publications/4fac1b46-f67c-4102-9629-836119e569b3
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Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact
Autor: Robert-Jan H. Galjaard, A. Coumans, E. J. (Joanne) Verweij, Lidewij Henneman, Erik A. Sistermans, Marjan M. Weiss, Elles M. J. Boon, C. M. Bilardo, Brigitte H. W. Faas, Attie T.J.I. Go, Eva Pajkrt, Godelieve C.M.L. Page-Christiaens, Mireille N. Bekker, R.F. Suijkerbuijk, Merryn V. E. Macville, Dick Oepkes, G. Heleen Schuring-Blom, Diane Van Opstal, Karin Huijsdens-van Amsterdam, Caroline J. Bax
Publikováno v: Prenatal Diagnosis, 36(12), 1083-1090. John Wiley & Sons Ltd.
Prenatal Diagnosis, 36, 12, pp. 1083-1090
Prenatal Diagnosis, 36(12), 1083-1090. John Wiley and Sons Ltd
Prenatal Diagnosis, 36(12), 1083-1090. Wiley-Blackwell
Prenatal Diagnosis, 36(12), 1083–1090. John Wiley and Sons Ltd
Oepkes, D, Page-Christiaens, G C, Bax, C J, Bekker, M N, Bilardo, C M, Boon, E M J, Schuring-Blom, G H, Coumans, A B C, Faas, B H, Galjaard, R-J H, Go, A T, Henneman, L, Macville, M V E, Pajkrt, E, Suijkerbuijk, R F, Huijsdens-van Amsterdam, K, Van Opstal, D, Verweij, E J, Weiss, M M & Sistermans, E A 2016, ' Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact ', Prenatal Diagnosis, vol. 36, no. 12, pp. 1083-1090 . https://doi.org/10.1002/pd.4945
Prenatal Diagnosis
Prenatal Diagnosis, 36, 1083-1090
Prenatal diagnosis, 36(12), 1083-1090. John Wiley and Sons Ltd
Prenatal Diagnosis, 36(12), 1083-1090. Wiley
Prenatal Diagnosis, 36(12), 1083-1090
Objective To evaluate the clinical impact of nationwide implementation of genome‐wide non‐invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). Method Women with elevated risk based o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5faa12211ed1d0e7d2ddca821866d83f
https://pure.eur.nl/en/publications/7a9e6d15-1fbe-4be1-a6b7-2b096fa851ad
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Quality aspects of prenatal cytogenetic diagnosis: determining the effect of various factors involved in handling amniotic fluid and chorionic villus material for cytogenetic diagnosis
Autor: Gerard J. te Meerman, Katelijne Bouman, Bauke de Jong, Charles H.C.M. Buys, Birgit Sikkema-Raddatz, R.F. Suijkerbuijk
Publikováno v: Prenatal Diagnosis, 26(9), 791-800. Wiley-Blackwell
Objectives To investigate the effect of factors involved in cell culturing and slide preparation of amniotic fluid (AF) and chorionic villus biopsies (CVB) for prenatal cytogenetic diagnosis.Methods The effect on the outcome of our standard AF cell c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ab928d008927019d9a165d2af8031f8
https://doi.org/10.1002/pd.1505
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