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

Maternal-Foetal HLA-DQB1 Incompatibility Is Associated With Pregnancy-Induced Hypertensive Disorders in a Genetically Isolated Population

在遗传隔离人群中,母胎HLA-DQB1不相容与妊娠期高血压疾病相关

Hof, Liseanne J Van't; van der Hoorn, Marie-Louise P; Migdis, Selena; Haasnoot, Geert W; Peereboom, Emma T M; Spierings, Eric; van der Linden, Pieter J E; Anholts, Jacqueline D H; de Vreede, Heleen; Ottenhof, Winnie; Roelen, Dave L; Eikmans, Michael; Mathijssen, Inge B; Lashley, Lisa E E L O

Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction

患者特异性TBX5-G125R变异体诱发严重的转录失调和心房功能障碍

van Ouwerkerk, Antoinette F; Bosada, Fernanda M; van Duijvenboden, Karel; Houweling, Arjan C; Scholman, Koen T; Wakker, Vincent; Allaart, Cornelis P; Uhm, Jae-Sun; Mathijssen, Inge B; Baartscheer, Ton; Postma, Alex V; Barnett, Phil; Verkerk, Arie O; Boukens, Bastiaan J; Christoffels, Vincent M

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

HEY2功能域的种系变异会导致先天性心脏缺陷和胸主动脉瘤。

van Walree, Eva S; Dombrowsky, Gregor; Jansen, Iris E; Mirkov, Maša Umićević; Zwart, Rob; Ilgun, Aho; Guo, Dongchuan; Clur, Sally-Ann B; Amin, Ahmed S; Savage, Jeanne E; van der Wal, Allard C; Waisfisz, Quinten; Maugeri, Alessandra; Wilsdon, Anna; Bu'Lock, Frances A; Hurles, Matthew E; Dittrich, Sven; Berger, Felix; Audain Martinez, Enrique; Christoffels, Vincent M; Hitz, Marc-Philip; Milewicz, Dianna M; Posthuma, Daniëlle; Meijers-Heijboer, Hanne; Postma, Alex V; Mathijssen, Inge B

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

针对多种疾病的孕前携带者筛查:对荷兰创始人人群筛查方案的评估

Mathijssen, Inge B; Holtkamp, Kim C A; Ottenheim, Cecile P E; van Eeten-Nijman, Janneke M C; Lakeman, Phillis; Meijers-Heijboer, Hanne; van Maarle, Merel C; Henneman, Lidewij

Further delineation of Malan syndrome

进一步阐述马兰综合征

Priolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H; Fahrner, Jill A; Foster, Alison; González, Noelia García; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M; Mammì, Corrado; Mathijssen, Inge B; McKee, Shane; Menke, Leonie A; Mirzaa, Ghayda M; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Valdez, Rita Maria; Van Haeringen, Arie; Van Hagen, Johanna M; Zollino, Marcela; Lapunzina, Pablo; Thakker, Rajesh V; Zenker, Martin; Hennekam, Raoul C

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Schaaf-Yang综合征的表型谱:来自14个家族的18名新患者

Fountain, Michael D; Aten, Emmelien; Cho, Megan T; Juusola, Jane; Walkiewicz, Magdalena A; Ray, Joseph W; Xia, Fan; Yang, Yaping; Graham, Brett H; Bacino, Carlos A; Potocki, Lorraine; van Haeringen, Arie; Ruivenkamp, Claudia A L; Mancias, Pedro; Northrup, Hope; Kukolich, Mary K; Weiss, Marjan M; van Ravenswaaij-Arts, Conny M A; Mathijssen, Inge B; Levesque, Sebastien; Meeks, Naomi; Rosenfeld, Jill A; Lemke, Danielle; Hamosh, Ada; Lewis, Suzanne K; Race, Simone; Stewart, Laura L; Hay, Beverly; Lewis, Andrea M; Guerreiro, Rita L; Bras, Jose T; Martins, Marcia P; Derksen-Lubsen, Gerarda; Peeters, Els; Stumpel, Connie; Stegmann, Sander; Bok, Levinus A; Santen, Gijs W E; Schaaf, Christian P

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives

成功实施基于人群的扩大型携带者筛查的因素:从现有举措中汲取经验

Holtkamp, Kim C A; Mathijssen, Inge B; Lakeman, Phillis; van Maarle, Merel C; Dondorp, Wybo J; Henneman, Lidewij; Cornel, Martina C

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

鉴定出荷兰MUSK基因中的一种创始突变,该突变导致胎儿运动不能畸形序列

Tan-Sindhunata, M Brigita; Mathijssen, Inge B; Smit, Margriet; Baas, Frank; de Vries, Johanna I; van der Voorn, J Patrick; Kluijt, Irma; Hagen, Marleen A; Blom, Eveline W; Sistermans, Erik; Meijers-Heijboer, Hanne; Waisfisz, Quinten; Weiss, Marjan M; Groffen, Alexander J

Variants in CUL4B are associated with cerebral malformations.

CUL4B基因变异与脑畸形有关

Vulto-van Silfhout Anneke T, Nakagawa Tadashi, Bahi-Buisson Nadia, Haas Stefan A, Hu Hao, Bienek Melanie, Vissers Lisenka E L M, Gilissen Christian, Tzschach Andreas, Busche Andreas, Müsebeck Jörg, Rump Patrick, Mathijssen Inge B, Avela Kristiina, Somer Mirja, Doagu Fatma, Philips Anju K, Rauch Anita, Baumer Alessandra, Voesenek Krysta, Poirier Karine, Vigneron Jacqueline, Amram Daniel, Odent Sylvie, Nawara Magdalena, Obersztyn Ewa, Lenart Jacek, Charzewska Agnieszka, Lebrun Nicolas, Fischer Ute, Nillesen Willy M, Yntema Helger G, Järvelä Irma, Ropers Hans-Hilger, de Vries Bert B A, Brunner Han G, van Bokhoven Hans, Raymond F Lucy, Willemsen Michèl A A P, Chelly Jamel, Xiong Yue, Barkovich A James, Kalscheuer Vera M, Kleefstra Tjitske, de Brouwer Arjan P M

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

对超声检查结果异常的胎儿进行努南综合征基因的产前诊断检测

Croonen, Ellen A; Nillesen, Willy M; Stuurman, Kyra E; Oudesluijs, Gretel; van de Laar, Ingrid M B M; Martens, Liesbeth; Ockeloen, Charlotte; Mathijssen, Inge B; Schepens, Marga; Ruiterkamp-Versteeg, Martina; Scheffer, Hans; Faas, Brigitte H W; van der Burgt, Ineke; Yntema, Helger G