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

High Prevalence of the Intronic GAA-FGF14 Repeat Expansion in Dutch Patients With Late-Onset Ataxia

荷兰晚发性共济失调患者中GAA-FGF14内含子重复扩增的高发率

Ignjatijevic, Ana; Boorsma, Femke; Wierenga, Elles; Vansenne, Fleur; Verschuuren-Bemelmans, Corien C; de Vries, Jeroen; Verbeek, Dineke S; Westers, Helga; van Diemen, Cleo C

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia

脊髓小脑性共济失调致病基因增强子区域的鉴定和拷贝数变异分析

Ghorbani, Fatemeh; de Boer, Eddy N; Fokkens, Michiel R; de Boer-Bergsma, Jelkje; Verschuuren-Bemelmans, Corien C; Wierenga, Elles; Kasaei, Hamidreza; Noordermeer, Daan; Verbeek, Dineke S; Westers, Helga; van Diemen, Cleo C

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia

对一组荷兰小脑共济失调患者进行脊髓小脑性共济失调基因拷贝数变异分析

Ghorbani, Fatemeh; de Boer, Eddy N; Benjamins-Stok, Marloes; Verschuuren-Bemelmans, Corien C; Knapper, Jurjen; de Boer-Bergsma, Jelkje; de Vries, Jeroen J; Sikkema-Raddatz, Birgit; Verbeek, Dineke S; Westers, Helga; van Diemen, Cleo C

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.

荷兰 CANVAS 和成人发病共济失调患者中 RFC1 内含子重复扩增的患病率

Ghorbani Fatemeh, de Boer-Bergsma Jelkje, Verschuuren-Bemelmans Corien C, Pennings Maartje, de Boer Eddy N, Kremer Berry, Vanhoutte Els K, de Vries Jeroen J, van de Berg Raymond, Kamsteeg Erik-Jan, van Diemen Cleo C, Westers Helga, van de Warrenburg Bart P, Verbeek Dineke S

Evaluation of a seven gene mutational profile as a prognostic factor in a population-based study of clear cell renal cell carcinoma

在基于人群的研究中,评估七基因突变谱作为透明细胞肾细胞癌预后因素的价值

van de Pol, Jeroen A A; Ferronika, Paranita; Westers, Helga; van Engeland, Manon; Terpstra, Martijn M; Smits, Kim M; de Lange, Kim; van den Brandt, Piet A; Sijmons, Rolf H; Schouten, Leo J; Kok, Klaas

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity

对同一家族中两种同时或分别分离的DSP变异体进行功能研究,支持了剂量依赖性疾病严重程度的理论。

Vermeer, Mathilde C S C; Andrei, Daniela; Kramer, Duco; Nijenhuis, Albertine M; Hoedemaekers, Yvonne M; Westers, Helga; Jongbloed, Jan D H; Pas, Hendri H; van den Berg, Maarten P; Silljé, Herman H W; van der Meer, Peter; Bolling, Maria C

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics

新基因变异分类方法的验证:诊断心脏遗传学中的现场测试

Alimohamed, Mohamed Z; Westers, Helga; Vos, Yvonne J; Van der Velde, K Joeri; Sijmons, Rolf H; Van der Zwaag, Paul A; Sikkema-Raddatz, Birgit; Jongbloed, Jan D H

A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome

一种基于功能性检测的林奇综合征错配修复基因变异分类方法

Drost, Mark; Tiersma, Yvonne; Thompson, Bryony A; Frederiksen, Jane H; Keijzers, Guido; Glubb, Dylan; Kathe, Scott; Osinga, Jan; Westers, Helga; Pappas, Lisa; Boucher, Kenneth M; Molenkamp, Siska; Zonneveld, José B; van Asperen, Christi J; Goldgar, David E; Wallace, Susan S; Sijmons, Rolf H; Spurdle, Amanda B; Rasmussen, Lene J; Greenblatt, Marc S; de Wind, Niels; Tavtigian, Sean V

Correspondence: SEMA4A variation and risk of colorectal cancer

通讯:SEMA4A变异与结直肠癌风险

Kinnersley, Ben; Chubb, Daniel; Dobbins, Sara E; Frampton, Matthew; Buch, Stephan; Timofeeva, Maria N; Castellví-Bel, Sergi; Farrington, Susan M; Forsti, Asta; Hampe, Jochen; Hemminki, Kari; Hofstra, Robert M W; Northwood, Emma; Palles, Claire; Pinheiro, Manuela; Ruiz-Ponte, Clara; Schafmayer, Clemens; Teixeira, Manuel R; Westers, Helga; van Wezel, Tom; Timothy Bishop, D; Tomlinson, Ian; Dunlop, Malcolm G; Houlston, Richard S

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer

复发性编码序列变异仅能解释结直肠癌遗传结构的一小部分

Timofeeva, Maria N; Kinnersley, Ben; Farrington, Susan M; Whiffin, Nicola; Palles, Claire; Svinti, Victoria; Lloyd, Amy; Gorman, Maggie; Ooi, Li-Yin; Hosking, Fay; Barclay, Ella; Zgaga, Lina; Dobbins, Sara; Martin, Lynn; Theodoratou, Evropi; Broderick, Peter; Tenesa, Albert; Smillie, Claire; Grimes, Graeme; Hayward, Caroline; Campbell, Archie; Porteous, David; Deary, Ian J; Harris, Sarah E; Northwood, Emma L; Barrett, Jennifer H; Smith, Gillian; Wolf, Roland; Forman, David; Morreau, Hans; Ruano, Dina; Tops, Carli; Wijnen, Juul; Schrumpf, Melanie; Boot, Arnoud; Vasen, Hans F A; Hes, Frederik J; van Wezel, Tom; Franke, Andre; Lieb, Wolgang; Schafmayer, Clemens; Hampe, Jochen; Buch, Stephan; Propping, Peter; Hemminki, Kari; Försti, Asta; Westers, Helga; Hofstra, Robert; Pinheiro, Manuela; Pinto, Carla; Teixeira, Manuel; Ruiz-Ponte, Clara; Fernández-Rozadilla, Ceres; Carracedo, Angel; Castells, Antoni; Castellví-Bel, Sergi; Campbell, Harry; Bishop, D Timothy; Tomlinson, Ian P M; Dunlop, Malcolm G; Houlston, Richard S