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

Systematic Review of Accuracy Differences in NIPT Methods for Common Aneuploidy Screening

常见非整倍体筛查中NIPT方法准确性差异的系统评价

Marton, Tamas; Erdélyi, Zsófia R; Takai, Minori; Mészáros, Balázs; Supák, Dorina; Ács, Nándor; Kukor, Zoltán; Herold, Zoltan; Hargitai, Beata; Valent, Sándor

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

BORCS5 中的致病变异会导致一系列神经发育障碍和神经退行性疾病,并伴有溶酶体功能障碍

Mencacci Niccolò E, Minakaki Georgia, Maroofian Reza, De Pace Raffaella, Paimboeuf Adeline, Shannon Patrick, Chitayat David, Magrinelli Francesca, Peng Wesley J, Chatterjee Diptaman, Eldessouky Sara H, Baptista Julia, Marton Tamas, Vogt Julie, Ortigoza-Escobar Juan Dario, Martorell Loreto, Gómez-Chiari Marta, Wentzensen Ingrid M, Kamsteeg Erik-Jan, Zaki Maha S, Scardamaglia Annarita, Zifarelli Giovanni, Al-Hassnan Zuhair Nasser, Miller Elka, Shinar Shiri, Matsa Lova S, Appikonda Sri Hari Chandan, Schwake Michael, Severino Mariasavina, Houlden Henry, Patten Shunmoogum A, Bonifacino Juan S, Bhatia Kailash P, Krainc Dimitri

Placental architectural characteristics following laser ablation within monochorionic twins complicated by twin-twin transfusion syndrome: A systematic review and meta-analysis of outcomes

单绒毛膜双胎合并双胎输血综合征行激光消融术后胎盘结构特征:一项系统评价和荟萃分析

Hamer, Jack; Eltaweel, Nashwa; Man, Rebecca; Rogerson, Matilde; Hodgetts Morton, Victoria; Morris, R Katie; Marton, Tamas; Gurney, Leo

Radiofrequency thermal ablation of giant placental chorioangioma complicated with fetal hydrops: a case report and successful outcome

射频热消融治疗伴有胎儿水肿的巨大胎盘绒毛膜血管瘤:病例报告及成功疗效

Le Vance, Jack; Gurney, Leo; Meher, Shireen; Negrine, Robert; Hodgetts Morton, Victoria; Marton, Tamas; Morris, R Katie

SARS-COV2 placentitis and pregnancy outcome: A multicentre experience during the Alpha and early Delta waves of coronavirus pandemic in England

SARS-CoV-2 胎盘炎与妊娠结局:英国新冠疫情 Alpha 波和早期 Delta 波期间的多中心经验

Stenton, Sophie; McPartland, Jo; Shukla, Rajeev; Turner, Kerry; Marton, Tamas; Hargitai, Beata; Bamber, Andrew; Pryce, Jeremy; Peres, Cesar L; Burguess, Nadia; Wagner, Bart; Ciolka, Barbara; Simmons, William; Hurrell, Daniel; Sekar, Thivya; Moldovan, Corina; Trayers, Claire; Bryant, Victoria; Palm, Liina; Cohen, Marta C

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

双等位基因PI4KA变异会导致神经系统疾病、肠道疾病和免疫系统疾病。

Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

对产前已确诊结构异常的胎儿和新生儿进行三重外显子组测序(ES)分子尸检和尸检

Quinlan-Jones, Elizabeth; Lord, Jenny; Williams, Denise; Hamilton, Sue; Marton, Tamas; Eberhardt, Ruth Y; Rinck, Gabriele; Prigmore, Elena; Keelagher, Rebecca; McMullan, Dominic J; Maher, Eamonn R; Hurles, Matthew E; Kilby, Mark D

Cardiac, bone and growth plate manifestations in hypocalcemic infants: revealing the hidden body of the vitamin D deficiency iceberg

低钙血症婴儿的心脏、骨骼和生长板表现:揭开维生素D缺乏症冰山一角

Uday, Suma; Fratzl-Zelman, Nadja; Roschger, Paul; Klaushofer, Klaus; Chikermane, Ashish; Saraff, Vrinda; Tulchinsky, Ted; Thacher, Tom D; Marton, Tamas; Högler, Wolfgang

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

FLVCR2基因突变与增生性血管病和脑积水综合征(福勒综合征)有关。

Meyer, Esther; Ricketts, Christopher; Morgan, Neil V; Morris, Mark R; Pasha, Shanaz; Tee, Louise J; Rahman, Fatimah; Bazin, Anne; Bessières, Bettina; Déchelotte, Pierre; Yacoubi, Mohamed T; Al-Adnani, Mudher; Marton, Tamas; Tannahill, David; Trembath, Richard C; Fallet-Bianco, Catherine; Cox, Phillip; Williams, Denise; Maher, Eamonn R

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

乙酰胆碱受体胚胎亚基(CHRNG)的突变会导致致死性多发性翼状胬肉综合征和埃斯科巴变异型。

Morgan, Neil V; Brueton, Louise A; Cox, Phillip; Greally, Marie T; Tolmie, John; Pasha, Shanaz; Aligianis, Irene A; van Bokhoven, Hans; Marton, Tamas; Al-Gazali, Lihadh; Morton, Jenny E V; Oley, Christine; Johnson, Colin A; Trembath, Richard C; Brunner, Han G; Maher, Eamonn R