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Outcome of publicly funded nationwide first-tier noninvasive prenatal screeningVan Den Bogaert, Kris ; Lannoo, Lore ; Brison, Nathalie ; Gatinois, Vincent ; Baetens, Machteld ; Blaumeiser, Bettina ; Boemer, François ; Bourlard, Laura ; Bours, Vincent ; De Leener, Anne ; De Rademaeker, Marjan ; Désir, Julie ; Dheedene, Annelies ; Duquenne, Armelle ; Fieremans, Nathalie ; Fieuw, Annelies ; Gatot, Jean-Stéphane ; Grisart, Bernard ; Janssens, Katrien ; Janssens, Sandra ; Lederer, Damien ; Marichal, Axel ; Menten, Björn ; Meunier, Colombine ; Palmeira, Leonor ; Pichon, Bruno ; Sammels, Eva ; Smits, Guillaume ; Sznajer, Yves ; Vantroys, Elise ; Devriendt, Koenraad ; Vermeesch, Joris RobertGenetics in medicine, 2021-06, Vol.23 (6), p.1137-1142 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |
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Practice Bulletin No. 163: Screening for Fetal AneuploidyObstetrics and gynecology (New York. 1953), 2016-05, Vol.127 (5), p.e123-e137 [Periódico revisado por pares]United States: by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reservedTexto completo disponível |
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Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart AssociationPierpont, Mary Ella ; Brueckner, Martina ; Chung, Wendy K ; Garg, Vidu ; Lacro, Ronald V ; McGuire, Amy L ; Mital, Seema ; Priest, James R ; Pu, William T ; Roberts, Amy ; Ware, Stephanie M ; Gelb, Bruce D ; Russell, Mark WCirculation (New York, N.Y.), 2018-11, Vol.138 (21), p.e653-e711 [Periódico revisado por pares]United States: by the American College of Cardiology Foundation and the American Heart Association, IncTexto completo disponível |
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A genetic cause of Alzheimer disease: mechanistic insights from Down syndromeWiseman, Frances K ; Al-Janabi, Tamara ; Hardy, John ; Karmiloff-Smith, Annette ; Nizetic, Dean ; Tybulewicz, Victor L J ; Fisher, Elizabeth M C ; Strydom, AndréNature reviews. Neuroscience, 2015-09, Vol.16 (9), p.564-574 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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A multicentre validation study of the diagnostic value of plasma neurofilament lightAshton, Nicholas J ; Janelidze, Shorena ; Al Khleifat, Ahmad ; Leuzy, Antoine ; van der Ende, Emma L ; Karikari, Thomas K ; Benedet, Andrea L ; Pascoal, Tharick A ; Lleó, Alberto ; Parnetti, Lucilla ; Galimberti, Daniela ; Bonanni, Laura ; Pilotto, Andrea ; Padovani, Alessandro ; Lycke, Jan ; Novakova, Lenka ; Axelsson, Markus ; Velayudhan, Latha ; Rabinovici, Gil D ; Miller, Bruce ; Pariante, Carmine ; Nikkheslat, Naghmeh ; Resnick, Susan M ; Thambisetty, Madhav ; Schöll, Michael ; Fernández-Eulate, Gorka ; Gil-Bea, Francisco J ; López de Munain, Adolfo ; Al-Chalabi, Ammar ; Rosa-Neto, Pedro ; Strydom, Andre ; Svenningsson, Per ; Stomrud, Erik ; Santillo, Alexander ; Aarsland, Dag ; van Swieten, John C ; Palmqvist, Sebastian ; Zetterberg, Henrik ; Blennow, Kaj ; Hye, Abdul ; Hansson, OskarNature communications, 2021-06, Vol.12 (1), p.3400-3400, Article 3400 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlandsvan der Meij, Karuna R.M. ; Sistermans, Erik A. ; Macville, Merryn V.E. ; Stevens, Servi J.C. ; Bax, Caroline J. ; Bekker, Mireille N. ; Bilardo, Caterina M. ; Boon, Elles M.J. ; Boter, Marjan ; Diderich, Karin E.M. ; de Die-Smulders, Christine E.M. ; Duin, Leonie K. ; Faas, Brigitte H.W. ; Feenstra, Ilse ; Haak, Monique C. ; Hoffer, Mariëtte J.V. ; den Hollander, Nicolette S. ; Hollink, Iris H.I.M. ; Jehee, Fernanda S. ; Knapen, Maarten F.C.M. ; Kooper, Angelique J.A. ; van Langen, Irene M. ; Lichtenbelt, Klaske D. ; Linskens, Ingeborg H. ; van Maarle, Merel C. ; Oepkes, Dick ; Pieters, Mijntje J. ; Schuring-Blom, G. Heleen ; Sikkel, Esther ; Sikkema-Raddatz, Birgit ; Smeets, Dominique F.C.M. ; Srebniak, Malgorzata I. ; Suijkerbuijk, Ron F. ; Tan-Sindhunata, Gita M. ; van der Ven, A. Jeanine E.M. ; van Zelderen-Bhola, Shama L. ; Henneman, Lidewij ; Galjaard, Robert-Jan H. ; Van Opstal, Diane ; Weiss, Marjan M.American journal of human genetics, 2019-12, Vol.105 (6), p.1091-1101 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Analysis of cell‐free DNA in maternal blood in screening for aneuploidies: updated meta‐analysisGil, M. M. ; Accurti, V. ; Santacruz, B. ; Plana, M. N. ; Nicolaides, K. H.Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (3), p.302-314 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Cell-free DNA Analysis for Noninvasive Examination of TrisomyNorton, Mary E ; Jacobsson, Bo ; Swamy, Geeta K ; Laurent, Louise C ; Ranzini, Angela C ; Brar, Herb ; Tomlinson, Mark W ; Pereira, Leonardo ; Spitz, Jean L ; Hollemon, Desiree ; Cuckle, Howard ; Musci, Thomas J ; Wapner, Ronald JThe New England journal of medicine, 2015-04, Vol.372 (17), p.1589-1597 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |
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Chromosomal Microarray versus Karyotyping for Prenatal DiagnosisWapner, Ronald J ; Martin, Christa Lese ; Levy, Brynn ; Ballif, Blake C ; Eng, Christine M ; Zachary, Julia M ; Savage, Melissa ; Platt, Lawrence D ; Saltzman, Daniel ; Grobman, William A ; Klugman, Susan ; Scholl, Thomas ; Simpson, Joe Leigh ; McCall, Kimberly ; Aggarwal, Vimla S ; Bunke, Brian ; Nahum, Odelia ; Patel, Ankita ; Lamb, Allen N ; Thom, Elizabeth A ; Beaudet, Arthur L ; Ledbetter, David H ; Shaffer, Lisa G ; Jackson, LairdThe New England journal of medicine, 2012-12, Vol.367 (23), p.2175-2184 [Periódico revisado por pares]Waltham, MA: Massachusetts Medical SocietyTexto completo disponível |
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Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Dungan, Jeffrey S. ; Klugman, Susan ; Darilek, Sandra ; Malinowski, Jennifer ; Akkari, Yassmine M.N. ; Monaghan, Kristin G. ; Erwin, Angelika ; Best, Robert G.Genetics in medicine, 2023-02, Vol.25 (2), p.100336-100336, Article 100336 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |