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Items: 1 to 20 of 189

1.

Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma.

Castoldi E, Duckers C, Radu C, Spiezia L, Rossetto V, Tagariello G, Rosing J, Simioni P.

J Thromb Haemost. 2011 May;9(5):959-68. doi: 10.1111/j.1538-7836.2011.04237.x.

2.

Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms.

Duckers C, Simioni P, Spiezia L, Radu C, Dabrilli P, Gavasso S, Rosing J, Castoldi E.

Blood. 2010 Jan 28;115(4):879-86. doi: 10.1182/blood-2009-08-237719. Epub 2009 Oct 27.

3.

Advances in understanding the bleeding diathesis in factor V deficiency.

Duckers C, Simioni P, Rosing J, Castoldi E.

Br J Haematol. 2009 Jun;146(1):17-26. doi: 10.1111/j.1365-2141.2009.07708.x. Epub 2009 Apr 27. Review.

PMID:
19438479
4.

Low plasma levels of tissue factor pathway inhibitor in patients with congenital factor V deficiency.

Duckers C, Simioni P, Spiezia L, Radu C, Gavasso S, Rosing J, Castoldi E.

Blood. 2008 Nov 1;112(9):3615-23. doi: 10.1182/blood-2008-06-162453. Epub 2008 Aug 11.

5.

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.

Dall'Osso C, Guella I, Duga S, Locatelli N, Paraboschi EM, Spreafico M, Afrasiabi A, Pechlaner C, Peyvandi F, Tenchini ML, Asselta R.

Haematologica. 2008 Oct;93(10):1505-13. doi: 10.3324/haematol.12934. Epub 2008 Aug 25.

6.

Molecular characterization of 3 factor V mutations, R2174L, V1813M, and a 5-bp deletion, that cause factor V deficiency.

Shinozawa K, Amano K, Suzuki T, Tanaka A, Iijima K, Takahashi H, Inaba H, Fukutake K.

Int J Hematol. 2007 Dec;86(5):407-13. doi: 10.1532/IJH97.07104.

PMID:
18192108
7.

Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency.

Nuzzo F, Bulato C, Nielsen BI, Lee K, Wielders SJ, Simioni P, Key NS, Castoldi E.

Haemophilia. 2015 Mar;21(2):241-8. doi: 10.1111/hae.12554. Epub 2014 Dec 3.

PMID:
25470420
8.

Severe factor X deficiency in three unrelated Palestinian patients is caused by homozygosity for the mutation c302delG-correlation with thrombin generation and thromboelastometry.

Livnat T, Shenkman B, Kenet G, Tamarin I, Gillis S, Varon D, Iijima K, Zivelin A, Salomon O.

Blood Coagul Fibrinolysis. 2011 Dec;22(8):673-9. doi: 10.1097/MBC.0b013e32834ad785.

PMID:
22008904
9.

Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation.

Nuzzo F, Radu C, Baralle M, Spiezia L, Hackeng TM, Simioni P, Castoldi E.

Blood. 2013 Nov 28;122(23):3825-31. doi: 10.1182/blood-2013-04-499657. Epub 2013 Oct 1.

10.

Factor V deficiency.

Asselta R, Peyvandi F.

Semin Thromb Hemost. 2009 Jun;35(4):382-9. doi: 10.1055/s-0029-1225760. Epub 2009 Jul 13. Review.

PMID:
19598066
11.

Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain.

Asselta R, Montefusco MC, Duga S, Malcovati M, Peyvandi F, Mannucci PM, Tenchini ML.

J Thromb Haemost. 2003 Jun;1(6):1237-44.

12.

Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.

van Wijk R, Nieuwenhuis K, van den Berg M, Huizinga EG, van der Meijden BB, Kraaijenhagen RJ, van Solinge WW.

Blood. 2001 Jul 15;98(2):358-67.

13.

Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees.

Fu QH, Zhou RF, Liu LG, Wang WB, Wu WM, Ding QL, Hu YQ, Wang XF, Wang ZY, Wang HL.

Haemophilia. 2004 May;10(3):264-70.

PMID:
15086325
14.

Identification of four novel mutations in F5 associated with congenital factor V deficiency.

Kanaji S, Kanaji T, Honda M, Nakazato S, Wakayama K, Tabata Y, Shibata S, Gondo H, Nakamura I, Node K, Miura M, Miyahara M, Okamura T, Nagumo F, Ohta S, Izuhara K.

Int J Hematol. 2009 Jan;89(1):71-5. doi: 10.1007/s12185-008-0210-4. Epub 2008 Dec 4.

PMID:
19052695
16.

[Severe hereditary coagulation factor V deficiency caused by two novel heterozygous mutations].

Zhou RF, Fu QH, Xu XC, Wang WB, Wu WM, Ding QL, Xie S, Zhai ZM, Hu YQ, Wang XF, Wu JS, Wang HL.

Zhonghua Xue Ye Xue Za Zhi. 2005 Mar;26(3):129-32. Chinese.

PMID:
15946520
17.

Influence of factor V HR2 on thrombin generation and clinical manifestation in rare bleeding disorders.

Strey RF, Siegemund A, Siegemund T, Schubert C, Schuster G, Wulff K, Herrmann FH.

Pathophysiol Haemost Thromb. 2005;34(6):279-83.

PMID:
16772740
18.

Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency.

Paraboschi EM, Kayiran SM, Özbek N, Gürakan B, Peyvandi F, Guella I, Duga S, Asselta R.

Haemophilia. 2012 Mar;18(2):205-10. doi: 10.1111/j.1365-2516.2011.02621.x. Epub 2011 Jul 21.

PMID:
21777354
19.

Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene.

Guasch JF, Cannegieter S, Reitsma PH, van't Veer-Korthof ET, Bertina RM.

Br J Haematol. 1998 Apr;101(1):32-9.

PMID:
9576178
20.

Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency.

Delev D, Pavlova A, Heinz S, Seifried E, Oldenburg J.

Haemophilia. 2009 Sep;15(5):1143-53. doi: 10.1111/j.1365-2516.2009.02048.x. Epub 2009 May 26.

PMID:
19486170

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