المؤلفون: Lange, Marcos Christiano, Zétola, Viviane Flumignan, Teive, Helio A.G., Scola, Rosana H., Trentin, Ana Paula, Zavala, Jorge A., Pereira, Eduardo R., Raskin, Salmo, Werneck, Lineu C., Sistermans, Erik A.

المصدر: Arquivos de Neuro-Psiquiatria. December 2004 62(4)

مصطلحات موضوعية: cerebrotendinous xanthomatosis, sterol 27-hydroxylase, CYP27A1

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2004000600028

المؤلفون: Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen GJ, Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J, Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W, Berr, Claudine, Bis, Joshua C, Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L, Farrer, Lindsay A, Fernández, Maria Victoria, Fox, Nick C, Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan JP, Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L, Holmes, Clive, Ikram, M Arfan, Ikram, M Kamran, Jansen, Iris E, Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W, Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel MAM, Marshall, Rachel, Martin, Eden R, Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O, Morgan, Kevin, Myers, Richard M, Nacmias, Benedetta, Naj, Adam C, Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A, Raybould, Rachel, Redon, Richard, Reinders, Marcel JT, Richard, Anne-Claire, Riedel-Heller, Steffi G, Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S, Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D, Scheltens, Philip, Schott, Jonathan M, Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A, Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo’, Tijms, Betty, Uitterlinden, André G, van der Lee, Sven J, Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C, Greicius, Michael D, Yokoyama, Jennifer S, Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo

المصدر: Nature Genetics. 54(12)

مصطلحات موضوعية: Biological Sciences, Genetics, Dementia, Alzheimer's Disease, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Human Genome, Prevention, Acquired Cognitive Impairment, Neurodegenerative, Aging, Clinical Research, Biotechnology, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Adenosine Triphosphatases, Alzheimer Disease, ATP Binding Cassette Transporter 1, Genome-Wide Association Study, Risk Factors, Exosomes, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3cr7x044
https://escholarship.org/content/qt3cr7x044/qt3cr7x044.pdf

المؤلفون: Kohabir, Kavish A.V., Linthorst, Jasper, Nooi, Lars O., Brouwer, Rick, Wolthuis, Rob M.F., Sistermans, Erik A.

المصدر: Cell Reports Methods ; page 100912 ; ISSN 2667-2375

الاتاحة: https://doi.org/10.1016/j.crmeth.2024.100912
https://api.elsevier.com/content/article/PII:S2667237524003023?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2667237524003023?httpAccept=text/plain

المؤلفون: Skojo, Matea, Srebniak, Malgorzata I., Henneman, Lidewij, Sistermans, Erik A., van der Meij, Karuna R.M.

المصدر: Best Practice & Research Clinical Obstetrics & Gynaecology ; volume 97, page 102543 ; ISSN 1521-6934

الاتاحة: https://doi.org/10.1016/j.bpobgyn.2024.102543
https://api.elsevier.com/content/article/PII:S152169342400097X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S152169342400097X?httpAccept=text/plain

المؤلفون: Becking, Ellis C., Scheffer, Peter G., Henrichs, Jens, Bax, Caroline J., Crombag, Neeltje M. T. H., Weiss, Marjan M., Macville, Merryn V. E., van Opstal, Diane, Boon, Elles M. J., Sistermans, Erik A., Henneman, Lidewij, Schuit, Ewoud, Bekker, Mireille N.

المصدر: Becking , E C , Scheffer , P G , Henrichs , J , Bax , C J , Crombag , N M T H , Weiss , M M , Macville , M V E , van Opstal , D , Boon , E M J , Sistermans , E A , Henneman , L , Schuit , E & Bekker , M N 2024 , ' Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes : a nationwide retrospective cohort study of 56,110 pregnant women ' , American Journal of Obstetrics and Gynecology ....

الاتاحة: https://research.vumc.nl/en/publications/e8d37366-699c-45ca-ab78-2196ba2a4a62
https://doi.org/10.1016/j.ajog.2023.12.008
http://www.scopus.com/inward/record.url?scp=85181801269&partnerID=8YFLogxK

المؤلفون: Becking, Ellis C., Sistermans, Erik A., Bekker, Mireille N.

المصدر: Becking , E C , Sistermans , E A & Bekker , M N 2024 , ' Fetal fraction in noninvasive prenatal testing and adverse pregnancy outcomes : a response ' , American Journal of Obstetrics and Gynecology , vol. 231 , no. 1 , pp. e56 . https://doi.org/10.1016/j.ajog.2024.03.014

الاتاحة: https://research.vumc.nl/en/publications/9e660c43-ab13-4a7d-83c8-23909f3c08c1
https://doi.org/10.1016/j.ajog.2024.03.014
http://www.scopus.com/inward/record.url?scp=85190558833&partnerID=8YFLogxK

المؤلفون: Faas, Brigitte H W, Astuti, Galuh, Melchers, Willem J G, Reuss, Annette, Gilissen, Christian, Macville, Merryn V E, Ghesquiere, Stijn A I, Houben, Leonieke M H, Srebniak, Malgorzata Ilona, Geeven, Geert, Rahamat-Langendoen, Janette C, Sistermans, Erik A, Linthorst, Jasper

المصدر: Faas , B H W , Astuti , G , Melchers , W J G , Reuss , A , Gilissen , C , Macville , M V E , Ghesquiere , S A I , Houben , L M H , Srebniak , M I , Geeven , G , Rahamat-Langendoen , J C , Sistermans , E A & Linthorst , J 2024 , ' Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing ' , EBioMedicine , vol. 100 , 104983 , pp. 104983 . https://doi.org/10.1016/j.ebiom.2024.104983

Relation: https://research.vumc.nl/en/publications/e0d800d7-01fe-463b-9ec7-24d33794ea28

الاتاحة: https://research.vumc.nl/en/publications/e0d800d7-01fe-463b-9ec7-24d33794ea28
https://doi.org/10.1016/j.ebiom.2024.104983
http://www.scopus.com/inward/record.url?scp=85184033654&partnerID=8YFLogxK

المؤلفون: Becking, Ellis C, Scheffer, Peter G, Henrichs, Jens, Bax, Caroline J, Crombag, Neeltje M T H, Weiss, Marjan M, Macville, Merryn V E, Van Opstal, Diane, Boon, Elles M J, Sistermans, Erik A, Henneman, Lidewij, Schuit, Ewoud, Bekker, Mireille N

المساهمون: MS Verloskunde, Klinisch Verloskundigen, Epi Methoden Team 2, Cancer, JC onderzoeksprogramma Methodologie, Child Health, Circulatory Health

مصطلحات موضوعية: adverse pregnancy outcomes, cell-free DNA, cell-free DNA screening, cell-free fetal DNA, fetal fraction, gestational diabetes, hypertensive disorders of pregnancy, noninvasive prenatal testing, pregnancy complications, small for gestational age neonates, spontaneous preterm birth, Obstetrics and Gynaecology, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454835

الاتاحة: https://dspace.library.uu.nl/handle/1874/454835

المؤلفون: Becking, Ellis C., Bekker, Mireille N., Henrichs, Jens, Bax, Caroline J., Sistermans, Erik A., Henneman, Lidewij, Scheffer, Peter G., Schuit, Ewoud

المصدر: BJOG: An International Journal of Obstetrics & Gynaecology; Feb2025, Vol. 132 Issue 3, p318-325, 8p

مصطلحات موضوعية: PREGNANCY outcomes, PREGNANT women, LIKELIHOOD ratio tests, PROGNOSIS, PREMATURE labor

المؤلفون: Mokveld, Tom, Al-Ars, Zaid, Sistermans, Erik A., Reinders, Marcel

المصدر: Mokveld , T , Al-Ars , Z , Sistermans , E A & Reinders , M 2023 , ' A comprehensive performance analysis of sequence-based within-sample testing NIPT methods ' , PLoS ONE , vol. 18 , no. 4 April , e0284493 . https://doi.org/10.1371/journal.pone.0284493

الاتاحة: https://research.vumc.nl/en/publications/80661260-ba0f-4bf5-baa1-7063d00f224f
https://doi.org/10.1371/journal.pone.0284493
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85152626260&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/37058455

المؤلفون: van der Meij, Karuna R.M., van de Pol, Qiu Ying F., Bekker, Mireille N., Martin, Linda, Gitsels-van der Wal, Janneke, van Vliet-Lachotzki, Elsbeth H., Weiss, Janneke M., Galjaard, Robert Jan H., Sistermans, Erik A., Macville, Merryn V.E., Henneman, Lidewij, The Dutch NIPT Consortium

المساهمون: MS Verloskunde, Child Health, Circulatory Health

مصطلحات موضوعية: Genetics, Genetics(clinical)

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/455925

الاتاحة: https://dspace.library.uu.nl/handle/1874/455925

المؤلفون: Becking, Ellis C., Schuit, Ewoud, van Baar de Knegt, Sophie M. E., Sistermans, Erik A., Henneman, Lidewij, Bekker, Mireille N., Scheffer, Peter G.

المصدر: Becking , E C , Schuit , E , van Baar de Knegt , S M E , Sistermans , E A , Henneman , L , Bekker , M N & Scheffer , P G 2023 , ' Association between low fetal fraction in cell-free DNA screening and fetal chromosomal aberrations : A systematic review and meta-analysis ' , Prenatal Diagnosis , vol. 43 , no. 7 , pp. 838-853 . https://doi.org/10.1002/pd.6366

الاتاحة: https://research.vumc.nl/en/publications/69d368fe-1b13-4d13-8935-c04b361faae0
https://doi.org/10.1002/pd.6366
http://www.scopus.com/inward/record.url?scp=85159638079&partnerID=8YFLogxK

المؤلفون: Becking, Ellis C., Linthorst, Jasper, Patton, Simon, Gutowska-Ding, Weronika, Goodall, Rebecca, Khawaja, Farrah, Morgan, Fiona, Deans, Zandra, Chitty, Lyn S., Bekker, Mireille N., Scheffer, Peter G., Sistermans, Erik A.

المصدر: Becking , E C , Linthorst , J , Patton , S , Gutowska-Ding , W , Goodall , R , Khawaja , F , Morgan , F , Deans , Z , Chitty , L S , Bekker , M N , Scheffer , P G & Sistermans , E A 2023 , ' Variability in Fetal Fraction Estimation : Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally ' , Clinical Chemistry , vol. 69 , no. 2 , pp. 160-167 . https://doi.org/10.1093/clinchem/hvac207 , https://doi.org/10.1093/clinchem/hvac207

الاتاحة: https://research.vumc.nl/en/publications/46b150cd-ce0e-4b4c-bcf8-f5480139a339
https://doi.org/10.1093/clinchem/hvac207
http://www.scopus.com/inward/record.url?scp=85147317813&partnerID=8YFLogxK

المؤلفون: Lannoo, Lore, van der Meij, Karuna R. M., Bekker, Mireille N., de Catte, Luc, Deckers, Sarah, Devriendt, Koenraad, Roggen, Nele, Galjaard, Robert-Jan H., Gitsels-van der Wal, Janneke, Macville, Merryn V. E., Martin, Linda, Sistermans, Erik A., van Calsteren, Kristel, van Keirsbilck, Joachim, Crombag, Neeltje, Henneman, Lidewij

المصدر: Lannoo , L , van der Meij , K R M , Bekker , M N , de Catte , L , Deckers , S , Devriendt , K , Roggen , N , Galjaard , R-J H , Gitsels-van der Wal , J , Macville , M V E , Martin , L , Sistermans , E A , van Calsteren , K , van Keirsbilck , J , Crombag , N & Henneman , L 2023 , ' A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and ....

الاتاحة: https://research.vumc.nl/en/publications/335443fb-8ab5-4d24-b444-63d48c639f3a
https://doi.org/10.1002/pd.6329
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85148433562&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/36740754

المؤلفون: van der Meij, Karuna R. M., Henneman, Lidewij, Sistermans, Erik A.

المصدر: van der Meij , K R M , Henneman , L & Sistermans , E A 2023 , ' Non-invasive prenatal testing for everybody or contingent screening? ' , Prenatal Diagnosis , vol. 43 , no. 4 , pp. 443-447 . https://doi.org/10.1002/pd.6296 , https://doi.org/10.1002/pd.6296

Relation: https://research.vumc.nl/en/publications/19ea1276-aa9f-4079-905a-cc8b7bcf43bf

الاتاحة: https://research.vumc.nl/en/publications/19ea1276-aa9f-4079-905a-cc8b7bcf43bf
https://doi.org/10.1002/pd.6296
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85146059992&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/36575900

المؤلفون: Becking, Ellis C, Schuit, Ewoud, van Baar de Knegt, Sophie M E, Sistermans, Erik A, Henneman, Lidewij, Bekker, Mireille N, Scheffer, Peter G

المساهمون: MS Verloskunde, Epi Methoden Team 4, Cancer, JC onderzoeksprogramma Methodologie, Child Health, Circulatory Health

مصطلحات موضوعية: Genetics(clinical), Obstetrics and Gynaecology, Review, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/449122

الاتاحة: https://dspace.library.uu.nl/handle/1874/449122

المؤلفون: Wilk, Benjamin, Smailovic, Haris, Sullivan, Rebecca, Sistermans, Erik R., Butler, John, Jago, Hannah, Kovacs, Michael, Wisenberg, Gerald, Thiessen, Jonathan D., Prato, Frank S.

المساهمون: Ontario Research Fund, Canadian Foundation for Innovation, Natural Sciences and Engineering Research Council of Canada/Alliance

المصدر: EJNMMI Research ; volume 13, issue 1 ; ISSN 2191-219X

الاتاحة: http://dx.doi.org/10.1186/s13550-023-01040-y
https://link.springer.com/content/pdf/10.1186/s13550-023-01040-y.pdf
https://link.springer.com/article/10.1186/s13550-023-01040-y/fulltext.html

المؤلفون: Smolen, Corrine, Jensen, Matthew, Dyer, Lisa, Pizzo, Lucilla, Tyryshkina, Anastasia, Banerjee, Deepro, Rohan, Laura, Huber, Emily, El Khattabi, Laila, Prontera, Paolo, Caberg, Jean-Hubert, Van Dijck, Anke, Schwartz, Charles, Faivre, Laurence, Callier, Patrick, Mosca-Boidron, Anne-Laure, Lefebvre, Mathilde, Pope, Kate, Snell, Penny, Lockhart, Paul J., Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Luana Mandarà, Giuseppa Maria, Bruccheri, Maria Grazia, Pichon, Olivier, Le Caignec, Cedric, Stoeva, Radka, Cuinat, Silvestre, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Nordsletten, Ashley, Martin-Coignard, Dominique, Sistermans, Erik, Kooy, R. Frank, Amor, David J., Romano, Corrado, Isidor, Bertrand, Juusola, Jane, Girirajan, Santhosh

المصدر: The American Journal of Human Genetics ; volume 110, issue 12, page 2015-2028 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.10.015
https://api.elsevier.com/content/article/PII:S0002929723003932?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929723003932?httpAccept=text/plain

المؤلفون: MS Verloskunde, Circulatory Health, Child Health, Becking, Ellis C., Sistermans, Erik A., Bekker, Mireille N.

URL: https://doi.org/10.1016/j.ajog.2024.03.014
http://hdl.handle.net/1874/454658
https://dspace.library.uu.nl/handle/1874/454658
http://www.scopus.com/inward/record.url?scp=85190558833&partnerID=8YFLogxK
0002-9378
American Journal of Obstetrics and Gynecology
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المؤلفون: MS Verloskunde, Klinisch Verloskundigen, Epi Methoden Team 2, Cancer, JC onderzoeksprogramma Methodologie, Child Health, Circulatory Health, Becking, Ellis C, Scheffer, Peter G, Henrichs, Jens, Bax, Caroline J, Crombag, Neeltje M T H, Weiss, Marjan M, Macville, Merryn V E, Van Opstal, Diane, Boon, Elles M J, Sistermans, Erik A, Henneman, Lidewij, Schuit, Ewoud, Bekker, Mireille N

URL: https://doi.org/10.1016/j.ajog.2023.12.008
http://hdl.handle.net/1874/454835
https://dspace.library.uu.nl/handle/1874/454835
http://www.scopus.com/inward/record.url?scp=85181801269&partnerID=8YFLogxK
0002-9378
American Journal of Obstetrics and Gynecology
231
2
244.e1
244.e18