These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 23621778)

  • 1. A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE).
    Pagliari MT; Baronciani L; Garcìa Oya I; Solimando M; La Marca S; Cozzi G; Stufano F; Canciani MT; Peyvandi F
    J Thromb Haemost; 2013 Jul; 11(7):1251-9. PubMed ID: 23621778
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A noncanonical splicing variant c.875-5 T > G in von Willebrand factor causes in-frame exon skipping and type 2A von Willebrand disease.
    Liang Q; Zhang Z; Ding B; Shao Y; Ding Q; Dai J; Hu X; Wu W; Wang X
    Thromb Res; 2024 Apr; 236():51-60. PubMed ID: 38387303
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.
    Hawke L; Bowman ML; Poon MC; Scully MF; Rivard GE; James PD
    Blood; 2016 Jul; 128(4):584-93. PubMed ID: 27317792
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.
    Dong J; Zhao X; Shi S; Ma Z; Liu M; Wu Q; Ruan C; Dong N
    PLoS One; 2012; 7(3):e33263. PubMed ID: 22479377
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Unraveling the effect of silent, intronic and missense mutations on
    Borràs N; Orriols G; Batlle J; Pérez-Rodríguez A; Fidalgo T; Martinho P; López-Fernández MF; Rodríguez-Trillo Á; Lourés E; Parra R; Altisent C; Cid AR; Bonanad S; Cabrera N; Moret A; Mingot-Castellano ME; Navarro N; Pérez-Montes R; Marcellin S; Moreto A; Herrero S; Soto I; Fernández-Mosteirín N; Jiménez-Yuste V; Alonso N; de Andrés-Jacob A; Fontanes E; Campos R; Paloma MJ; Bermejo N; Berrueco R; Mateo J; Arribalzaga K; Marco P; Palomo Á; Quismondo NC; Iñigo B; Nieto MDM; Vidal R; Martínez MP; Aguinaco R; Tenorio JM; Ferreiro M; García-Frade J; Rodríguez-Huerta AM; Cuesta J; Rodríguez-González R; García-Candel F; Dobón M; Aguilar C; Vidal F; Corrales I
    Haematologica; 2019 Mar; 104(3):587-598. PubMed ID: 30361419
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease.
    Gallinaro L; Sartorello F; Pontara E; Cattini MG; Bertomoro A; Bartoloni L; Pagnan A; Casonato A
    Thromb Haemost; 2006 Dec; 96(6):711-6. PubMed ID: 17139363
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and laboratory phenotype variability in type 2M von Willebrand disease.
    Doruelo AL; Haberichter SL; Christopherson PA; Boggio LN; Gupta S; Lentz SR; Shapiro AD; Montgomery RR; Flood VH
    J Thromb Haemost; 2017 Aug; 15(8):1559-1566. PubMed ID: 28544236
    [TBL] [Abstract][Full Text] [Related]  

  • 8. von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.
    Brehm MA; Huck V; Aponte-Santamaría C; Obser T; Grässle S; Oyen F; Budde U; Schneppenheim S; Baldauf C; Gräter F; Schneider SW; Schneppenheim R
    Thromb Haemost; 2014 Jul; 112(1):96-108. PubMed ID: 24598842
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterisation of mutations and molecular studies of type 2 von Willebrand disease.
    Ahmad F; Jan R; Kannan M; Obser T; Hassan MI; Oyen F; Budde U; Saxena R; Schneppenheim R
    Thromb Haemost; 2013 Jan; 109(1):39-46. PubMed ID: 23179108
    [TBL] [Abstract][Full Text] [Related]  

  • 10. von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients.
    Pagliari MT; Baronciani L; Stufano F; Garcia-Oya I; Cozzi G; Franchi F; Peyvandi F
    Haemophilia; 2016 Nov; 22(6):e502-e511. PubMed ID: 27785872
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination.
    Stufano F; Baronciani L; Pagliari MT; Franchi F; Cozzi G; Garcia-Oya I; Bucciarelli P; Boscarino M; Peyvandi F
    J Thromb Haemost; 2015 Oct; 13(10):1806-14. PubMed ID: 26206100
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies.
    Castaman G; Platè M; Giacomelli SH; Rodeghiero F; Duga S
    J Thromb Haemost; 2010 Dec; 8(12):2736-42. PubMed ID: 20854374
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.
    Pagliari MT; Baronciani L; Cordiglieri C; Colpani P; Cozzi G; Siboni SM; Peyvandi F
    Haemophilia; 2022 Mar; 28(2):292-300. PubMed ID: 35064738
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami.
    Obser T; Ledford-Kraemer M; Oyen F; Brehm MA; Denis CV; Marschalek R; Montgomery RR; Sadler JE; Schneppenheim S; Budde U; Schneppenheim R
    J Thromb Haemost; 2016 Sep; 14(9):1725-35. PubMed ID: 27344059
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional analysis of three recombinant A1-VWF domain mutants in comparison to wild type and plasma-derived VWF facilitates subtyping in type 2 von Willebrand disease.
    Chegeni R; Vickars L; Favaloro EJ; Lillicrap D; Othman M
    Thromb Res; 2011 Feb; 127(2):161-6. PubMed ID: 21094983
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel type 2A von Willebrand factor mutation located at the last nucleotide of exon 26 (3538G>A) causes skipping of 2 nonadjacent exons.
    James PD; O'Brien LA; Hegadorn CA; Notley CR; Sinclair GD; Hough C; Poon MC; Lillicrap D
    Blood; 2004 Nov; 104(9):2739-45. PubMed ID: 15226181
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease.
    Schneppenheim R; Budde U; Obser T; Brassard J; Mainusch K; Ruggeri ZM; Schneppenheim S; Schwaab R; Oldenburg J
    Blood; 2001 Apr; 97(7):2059-66. PubMed ID: 11264172
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular genetics of type 2 von Willebrand disease.
    Fressinaud E; Mazurier C; Meyer D
    Int J Hematol; 2002 Jan; 75(1):9-18. PubMed ID: 11843298
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality.
    Castaman G; Federici AB
    Semin Thromb Hemost; 2016 Jul; 42(5):478-82. PubMed ID: 27148840
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor.
    Liang Q; Lin X; Wu X; Shao Y; Chen C; Dai J; Lu Y; Wu W; Ding Q; Wang X
    Hum Mutat; 2022 Feb; 43(2):215-227. PubMed ID: 34882887
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.