Publications:

Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.

Blood Advances

Atiq, Ferdows F; Heijdra, Jessica J; Snijders, Fleur F; Boender, Johan J; Kempers, Eva E; van Heerde, Waander L WL; Maas, Dominique P M S M DPMSM; Krouwel, Sandy S; Schoormans, Selene C SC; de Meris, Joke J; Schols, Saskia E M SEM; van Galen, Karin P M KPM; van der Bom, Johanna G JG; Cnossen, Marjon H MH; Meijer, Karina K; Fijnvandraat, Karin K; Eikenboom, Jeroen J; Leebeek, Frank W G FWG

Publication Date: 2022-09-27

Variant appearance in text: VWF: T1951A

PubMed Link: 35446929

Variant Present in the following documents:

• advancesADV2021006757.pdf

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Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.

Th Open : Companion Journal To Thrombosis And Haemostasis

Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C

Publication Date: 2018-01

Variant appearance in text: VWF: 5851A>G; T1951A; rs144072210

PubMed Link: 31249928

Variant Present in the following documents:

• Main text
• 10-1055-s-0037-1618571.pdf

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Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.

Science (New York, N.Y.)

Bastarache, Lisa L; Hughey, Jacob J JJ; Hebbring, Scott S; Marlo, Joy J; Zhao, Wanke W; Ho, Wanting T WT; Van Driest, Sara L SL; McGregor, Tracy L TL; Mosley, Jonathan D JD; Wells, Quinn S QS; Temple, Michael M; Ramirez, Andrea H AH; Carroll, Robert R; Osterman, Travis T; Edwards, Todd T; Ruderfer, Douglas D; Velez Edwards, Digna R DR; Hamid, Rizwan R; Cogan, Joy J; Glazer, Andrew A; Wei, Wei-Qi WQ; Feng, QiPing Q; Brilliant, Murray M; Zhao, Zhizhuang J ZJ; Cox, Nancy J NJ; Roden, Dan M DM; Denny, Joshua C JC

Publication Date: 2018-03-16

Variant appearance in text: VWF: 5851A>G; Thr1951Ala; rs144072210

PubMed Link: 29590070

Variant Present in the following documents:

• Main text

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: VWF: T1951A

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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