Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.
Hemasphere
Atiq, Ferdows F; Boender, Johan J; van Heerde, Waander L WL; Tellez Garcia, Juan M JM; Schoormans, Selene C SC; Krouwel, Sandy S; Cnossen, Marjon H MH; Laros-van Gorkom, Britta A P BAP; de Meris, Joke J; Fijnvandraat, Karin K; van der Bom, Johanna G JG; Meijer, Karina K; van Galen, Karin P M KPM; Eikenboom, Jeroen J; Leebeek, Frank W G FWG
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Journal Of Thrombosis And Haemostasis : Jth
Maas, Dominique P M S M DPMSM; Atiq, Ferdows F; Blijlevens, Nicole M A NMA; Brons, Paul P T PPT; Krouwel, Sandy S; Laros-van Gorkom, Britta A P BAP; Leebeek, Frank W G FWG; Nieuwenhuizen, Laurens L; Schoormans, Selene C M SCM; Simons, Annet A; Meijer, Daniëlle D; van Heerde, Waander L WL; Schols, Saskia E M SEM
Publication Date: 2022-02
Variant appearance in text: VWF: 6553C>T; Arg2185Trp
Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.
Blood
Lavin, Michelle M; Aguila, Sonia S; Schneppenheim, Sonja S; Dalton, Niall N; Jones, Kenneth L KL; O'Sullivan, Jamie M JM; O'Connell, Niamh M NM; Ryan, Kevin K; White, Barry B; Byrne, Mary M; Rafferty, Marie M; Doyle, Mairead M MM; Nolan, Margaret M; Preston, Roger J S RJS; Budde, Ulrich U; James, Paula P; Di Paola, Jorge J; O'Donnell, James S JS
Publication Date: 2017-11-23
Variant appearance in text: VWF: 6553C>T; Arg2185Trp; rs569962285
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ