日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Performance of non-invasive prenatal testing in vanishing-twin and multiple pregnancies: results of TRIDENT-2 study

无创产前检测在消失双胎和多胎妊娠中的表现:TRIDENT-2 研究结果

van Eekhout, J C A; Bax, C J; Schuurman, L van Prooyen; Becking, E C; van der Ven, A J E M; Van Opstal, D; Boon, E M J; Macville, M V E; Bekker, M N; Galjaard, R J H

Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study

对妊娠相关癌症女性进行产前无细胞DNA检测:一项回顾性横断面研究

Heesterbeek, Catharina J; Tjan-Heijnen, Vivianne C G; Heimovaara, Joosje H; Lenaerts, Liesbeth; Lok, Christianne; Vriens, Ingeborg J H; Van Opstal, Diane; Boon, Elles M J; Sie, Daoud; de Die-Smulders, Christine E M; Amant, Frédéric; Macville, Merryn V E

Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing

利用无创胎儿非整倍体检测生成的数据,早期发现孕妇体内活动性人巨细胞病毒 (hCMV) 感染

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

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

妊娠早期自然流产中染色体异常的发生率

Rick Essers # ,Igor N Lebedev # ,Ants Kurg # ,Elizaveta A Fonova ,Servi J C Stevens ,Rebekka M Koeck ,Ulrike von Rango ,Lloyd Brandts ,Spyridon Panagiotis Deligiannis ,Tatyana V Nikitina ,Elena A Sazhenova ,Ekaterina N Tolmacheva ,Anna A Kashevarova ,Dmitry A Fedotov ,Viktoria V Demeneva ,Daria I Zhigalina ,Gleb V Drozdov ,Salwan Al-Nasiry ,Merryn V E Macville ,Arthur van den Wijngaard ,Jos Dreesen ,Aimee Paulussen ,Alexander Hoischen ,Han G Brunner ,Andres Salumets ,Masoud Zamani Esteki

Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program

孕妇在全国筛查项目中接受全基因组无创产前检测的经历

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

Liquid biopsy: state of reproductive medicine and beyond

液体活检:生殖医学现状及未来展望

Schobers, Gaby; Koeck, Rebekka; Pellaers, Dominique; Stevens, Servi J C; Macville, Merryn V E; Paulussen, Aimée D C; Coonen, Edith; van den Wijngaard, Arthur; de Die-Smulders, Christine; de Wert, Guido; Brunner, Han G; Zamani Esteki, Masoud

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

TRIDENT-2:荷兰全国范围内实施全基因组无创产前检测作为一级筛查检测

van 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

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

女性X连锁ZC4H2基因的有害新生变异会导致神经源性多发性先天性关节挛缩症的表型变化。

Frints, Suzanna G M; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H; Hunt, David; Mendelsohn, Bryce A; Kordaß, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernández-Jaén, Alberto; van Roozendaal, Kees; Stevens, Servi J C; Macville, Merryn V E; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M; McGregor, Lesley; Maas, Saskia M; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S; Engle, Elizabeth C; Houge, Gunnar; Gradek, Gyri A; Douglas, Andrew G L; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C; Hirata, Hiromi; Kalscheuer, Vera M

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

除常见三体综合征外,其他染色体畸变的起源和临床意义:TRIDENT 研究结果

Van Opstal, Diane; van Maarle, Merel C; Lichtenbelt, Klaske; Weiss, Marjan M; Schuring-Blom, Heleen; Bhola, Shama L; Hoffer, Mariette J V; Huijsdens-van Amsterdam, Karin; Macville, Merryn V; Kooper, Angelique J A; Faas, Brigitte H W; Govaerts, Lutgarde; Tan-Sindhunata, Gita M; den Hollander, Nicolette; Feenstra, Ilse; Galjaard, Robert-Jan H; Oepkes, Dick; Ghesquiere, Stijn; Brouwer, Rutger W W; Beulen, Lean; Bollen, Sander; Elferink, Martin G; Straver, Roy; Henneman, Lidewij; Page-Christiaens, Godelieve C; Sistermans, Erik A

Absence of heterozygosity due to template switching during replicative rearrangements

复制重排过程中由于模板转换而导致的杂合性缺失

Carvalho, Claudia M B; Pfundt, Rolph; King, Daniel A; Lindsay, Sarah J; Zuccherato, Luciana W; Macville, Merryn V E; Liu, Pengfei; Johnson, Diana; Stankiewicz, Pawel; Brown, Chester W; Shaw, Chad A; Hurles, Matthew E; Ira, Grzegorz; Hastings, P J; Brunner, Han G; Lupski, James R