Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Kooper, AJA"'
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Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience
Autor: Faas, BHW, Feenstra, I, Eggink, Alex, Kooper, AJA, Pfundt, R, Vugt, JMG, de Leeuw, N
Publikováno v: Prenatal Diagnosis, 32(4), 362-370. John Wiley & Sons Ltd.
Objective We evaluated both clinical and laboratory aspects of our new strategy offering quantitative fluorescence (QF)-PCR followed by non-targeted whole genome 250K single-nucleotide polymorphism array analysis instead of routine karyotyping for pr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::92f2c953e062d3fcb7e9afc1ff9220d3
https://pure.eur.nl/en/publications/224fc6cc-9d2f-40c3-bb97-bb857aef73a3
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3
Akademický článek
Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere.
Autor: van der Laan L; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Hoekman DR; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Wortelboer EJ; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Mannens MMAM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Kooper AJA; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands. a.j.kooper@amsterdamumc.nl.
Publikováno v: Molecular cytogenetics [Mol Cytogenet] 2023 Nov 30; Vol. 16 (1), pp. 34. Date of Electronic Publication: 2023 Nov 30.
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4
Akademický článek
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.
Autor: de Groot-van der Mooren M; Department of Neonatology, Amsterdam Public Health and Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centres, location VUmc, Amsterdam, The Netherlands., de Graaf G; Dutch Down Syndrome Foundation, Meppel, The Netherlands., Weijerman ME; Department of Pediatrics, Alrijne Hospital, Leiderdorp, The Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Knijnenburg J; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., van der Kevie-Kersemaekers AMF; Department of Clinical Genetics, Amsterdam University Medical Centres, location AMC, Amsterdam, The Netherlands., Kooper AJA; Department of Clinical Genetics, Amsterdam University Medical Centres, location AMC, Amsterdam, The Netherlands., Voorhoeve E; Department of Clinical Genetics, Amsterdam University Medical Centres, location VUmc, Amsterdam, The Netherlands., Sikkema-Raddatz B; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands., van Zutven LJCM; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Srebniak MI; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Huijsdens-van Amsterdam K; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Engelen JJM; Department of Clinical Genetics, Research Institute Growth and Development (GROW), Maastricht University Medical Centre, Maastricht, The Netherlands., Smeets D; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., van Kaam AH; Department of Neonatology and Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centres, location VUmc, Amsterdam, The Netherlands., Cornel MC; Department of Clinical Genetics and Amsterdam Public Health Research Institute, Amsterdam University Medical Centres, Vrije Universiteit Amsterdam, location VUmc, Amsterdam, The Netherlands.
Publikováno v: Prenatal diagnosis [Prenat Diagn] 2021 Sep; Vol. 41 (10), pp. 1351-1359. Date of Electronic Publication: 2021 Jul 01.
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5
Akademický článek
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
Autor: van der Meij KRM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., Sistermans EA; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands. Electronic address: e.sistermans@amsterdamumc.nl., Macville MVE; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229HX, Maastricht, the Netherlands., Stevens SJC; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229HX, Maastricht, the Netherlands., Bax CJ; Department of Obstetrics and Gynaecology, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands., Bekker MN; Department of Obstetrics and Gynaecology, Utrecht University Medical Center, 3584CX Utrecht, the Netherlands., Bilardo CM; Department of Obstetrics and Gynaecology, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., Boon EMJ; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., Boter M; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Diderich KEM; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., de Die-Smulders CEM; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229HX, Maastricht, the Netherlands., Duin LK; Department of Obstetry and Gynaecology, University Medical Centre Groningen, University of Groningen, 9713GZ Groningen, the Netherlands., Faas BHW; Department of Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical Center, 6525GA Nijmegen, the Netherlands., Feenstra I; Department of Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical Center, 6525GA Nijmegen, the Netherlands., Haak MC; Department of Obstetrics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands., den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands., Hollink IHIM; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Jehee FS; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Knapen MFCM; Department of Obstetrics and Fetal Medicine, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Kooper AJA; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands., van Langen IM; Department of Genetics, University Medical Centre Groningen, University of Groningen, 9713GZ Groningen, the Netherlands., Lichtenbelt KD; Department of Genetics, Utrecht University Medical Center, 3584CX Utrecht, the Netherlands., Linskens IH; Department of Obstetrics and Gynaecology, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., van Maarle MC; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands., Oepkes D; Department of Obstetrics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands., Pieters MJ; Department of Obstetrics and Gynecology, Maastricht University Medical Center, 6229HX Maastricht, the Netherlands., Schuring-Blom GH; Department of Genetics, Utrecht University Medical Center, 3584CX Utrecht, the Netherlands., Sikkel E; Department of Obstetrics and Gynecology, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Sikkema-Raddatz B; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands., Smeets DFCM; Department of Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical Center, 6525GA Nijmegen, the Netherlands., Srebniak MI; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Suijkerbuijk RF; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands., Tan-Sindhunata GM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., van der Ven AJEM; Verloskundigenpraktijk Velp, 6883AX Velp, the Netherlands., van Zelderen-Bhola SL; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., Henneman L; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands., Galjaard RH; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Van Opstal D; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Weiss MM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands.
Publikováno v: American journal of human genetics [Am J Hum Genet] 2019 Dec 05; Vol. 105 (6), pp. 1091-1101. Date of Electronic Publication: 2019 Nov 07.
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Akademický článek
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Autor: Van Opstal D; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., van Maarle MC; Department of Clinical Genetics, Academic Medical Center, Amsterdam, Amsterdam, The Netherlands., Lichtenbelt K; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Weiss MM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Schuring-Blom H; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Bhola SL; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Huijsdens-van Amsterdam K; Department of Clinical Genetics, Academic Medical Center, Amsterdam, Amsterdam, The Netherlands., Macville MV; Department of Clinical Genetics, Maastricht UMC+, Maastricht, The Netherlands., Kooper AJA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Faas BHW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Govaerts L; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Tan-Sindhunata GM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., den Hollander N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Feenstra I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Galjaard RH; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Oepkes D; Department of Obstetrics, Leiden University Medical Center, Leiden, The Netherlands., Ghesquiere S; Department of Clinical Genetics, Maastricht UMC+, Maastricht, The Netherlands., Brouwer RWW; Erasmus Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., Beulen L; Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, The Netherlands., Bollen S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Elferink MG; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Straver R; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Henneman L; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Page-Christiaens GC; Department of Obstetrics and Gynaecology, University Medical Center Utrecht, Utrecht, The Netherlands., Sistermans EA; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Apr; Vol. 20 (5), pp. 480-485. Date of Electronic Publication: 2017 Sep 28.
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7
Akademický článek
Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands.
Autor: de Graaf G; Dutch Down Syndrome Foundation, Meppel, The Netherlands., Engelen JJM; Department of Clinical Genetics, Research Institute Growth and Development (GROW), Maastricht University Medical Center, Maastricht, The Netherlands., Gijsbers ACJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Hochstenbach R; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Kooper AJA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Sikkema-Raddatz B; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands., Srebniak MI; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., van der Kevie-Kersemaekers AMF; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands., van Zutven LJCM; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Voorhoeve E; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Publikováno v: Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2017 May; Vol. 61 (5), pp. 461-470. Date of Electronic Publication: 2017 Mar 05.
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8
Akademický článek
Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.
Autor: Kooper AJA; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. Electronic address: a.kooper@antrg.umcn.nl., Faas BHW; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Feuth T; Departments of Epidemiology, Biostatistics and Health Technology Assessment, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Creemers JWT; Departments of Obstetrics and Gynecology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Zondervan HH; Department of Obstetrics and Gynecology, Rijnstate Hospital, Arnhem, The Netherlands., Boekkooi PF; Department of Obstetrics and Gynecology, St. Elizabeth's Hospital, Tilburg, The Netherlands., Quartero RWP; Department of Obstetrics and Gynecology, Medisch Spectrum Twente, Enschede, The Netherlands., Rijnders RJP; Department of Obstetrics and Gynecology, Jeroen Bosch Hospital, 's-Hertogenbosch, The Netherlands., van der Burgt I; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., van Kessel AG; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Smits APT; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Publikováno v: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2009 Jan; Vol. 11 (1), pp. 17-24. Date of Electronic Publication: 2008 Dec 12.
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