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Results: 1 to 20 of 100

1.

X-linked thrombophilia with a mutant factor IX (factor IX Padua).

Simioni P, Tormene D, Tognin G, Gavasso S, Bulato C, Iacobelli NP, Finn JD, Spiezia L, Radu C, Arruda VR.

N Engl J Med. 2009 Oct 22;361(17):1671-5. doi: 10.1056/NEJMoa0904377.

PMID:
19846852
[PubMed - indexed for MEDLINE]
Free Article
2.

Incorporation of the factor IX Padua mutation into FIX-Triple improves clotting activity in vitro and in vivo.

Kao CY, Yang SJ, Tao MH, Jeng YM, Yu IS, Lin SW.

Thromb Haemost. 2013 Aug;110(2):244-56. doi: 10.1160/TH13-02-0154. Epub 2013 May 16.

PMID:
23676890
[PubMed - indexed for MEDLINE]
3.

Factor IX-Padua enhances the fibrinolytic resistance of plasma clots.

Ammollo CT, Semeraro F, Colucci M, Simioni P.

Thromb Haemost. 2014 Feb;111(2):226-32. doi: 10.1160/TH13-06-0489. Epub 2013 Oct 17.

PMID:
24136406
[PubMed - indexed for MEDLINE]
4.

Prevalence of Factor IX-R338L (Factor IX Padua) in a cohort of patients with venous thromboembolism and mild elevation of factor IX levels.

Mazetto Bde M, Orsi FL, Siqueira LH, de Mello TB, de Paula EV, Annichino-Bizzacchi JM.

Thromb Res. 2010 Aug;126(2):e165. doi: 10.1016/j.thromres.2010.04.019. Epub 2010 Jun 1. No abstract available.

PMID:
20605624
[PubMed - indexed for MEDLINE]
5.

The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa.

de la Salle C, Charmantier JL, Ravanat C, Ohlmann P, Hartmann ML, Schuhler S, Bischoff R, Ebel C, Roecklin D, Balland A, et al.

Nouv Rev Fr Hematol. 1993;35(5):473-80.

PMID:
8295821
[PubMed - indexed for MEDLINE]
6.

Factor IX-R338L (Factor IX Padua) screening in a Dutch population of sibpairs with early onset venous thromboembolism.

Koenderman JS, Bertina RM, Reitsma PH, de Visser MC.

Thromb Res. 2011 Dec;128(6):603. doi: 10.1016/j.thromres.2011.07.009. Epub 2011 Jul 30. No abstract available.

PMID:
21802712
[PubMed - indexed for MEDLINE]
7.

Hyperfunctional coagulation factor IX improves the efficacy of gene therapy in hemophilic mice.

Cantore A, Nair N, Della Valle P, Di Matteo M, Màtrai J, Sanvito F, Brombin C, Di Serio C, D'Angelo A, Chuah M, Naldini L, Vandendriessche T.

Blood. 2012 Nov 29;120(23):4517-20. doi: 10.1182/blood-2012-05-432591. Epub 2012 Oct 4.

PMID:
23043073
[PubMed - indexed for MEDLINE]
Free Article
8.

A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism.

Chu K, Wu SM, Stanley T, Stafford DW, High KA.

J Clin Invest. 1996 Oct 1;98(7):1619-25.

PMID:
8833911
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Hemophilia B with mutations at glycine-48 of factor IX exhibited delayed activation by the factor VIIa-tissue factor complex.

Wu PC, Hamaguchi N, Yu YS, Shen MC, Lin SW.

Thromb Haemost. 2000 Oct;84(4):626-34.

PMID:
11057861
[PubMed - indexed for MEDLINE]
10.

Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.

Vidaud D, Tartary M, Costa JM, Bahnak BR, Gispert-Sanchez S, Fressinaud E, Gazengel C, Meyer D, Goossens M, Lavergne JM, et al.

Hum Genet. 1993 Apr;91(3):241-4.

PMID:
8478007
[PubMed - indexed for MEDLINE]
11.

A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism.

Tsang TC, Bentley DR, Mibashan RS, Giannelli F.

EMBO J. 1988 Oct;7(10):3009-15.

PMID:
3181127
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.

Mahajan A, Chavali S, Kabra M, Chowdhury MR, Bharadwaj D.

Haematologica. 2004 Dec;89(12):1498-503.

PMID:
15590401
[PubMed - indexed for MEDLINE]
Free Article
14.

Haemophilia B in female twins caused by a point mutation in one factor IX gene and nonrandom inactivation patterns of the X-chromosomes.

Schröder W, Wulff K, Wollina K, Herrmann FH.

Thromb Haemost. 1997 Nov;78(5):1347-51.

PMID:
9408017
[PubMed - indexed for MEDLINE]
15.

Factor IX Denver, ASN 346-->ASP mutation resulting in a dysfunctional protein with defective factor VIIIa interaction.

Lefkowitz JB, Nuss R, Haver T, Jacobson L, Thompson AR, Manco-Johnson M.

Thromb Haemost. 2001 Sep;86(3):862-70.

PMID:
11583320
[PubMed - indexed for MEDLINE]
16.

Molecular defect in factor IX Tokyo: substitution of valine-182 by alanine at position P2' in the second cleavage site by factor XIa resulting in impaired activation.

Maekawa H, Sugo T, Yamashita N, Kamiya K, Umeyama H, Miura N, Naka H, Nishimura T, Yoshioka A, Matsuda M.

Biochemistry. 1993 Jun 22;32(24):6146-51.

PMID:
8512923
[PubMed - indexed for MEDLINE]
17.

Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B.

Orstavik KH, Scheibel E, Ingerslev J, Schwartz M.

Thromb Haemost. 2000 Mar;83(3):433-7.

PMID:
10744150
[PubMed - indexed for MEDLINE]
18.

Factor IX Fukuoka. Substitution of ASN92 by His in the second epidermal growth factor-like domain results in defective interaction with factors VIIa/X.

Nishimura H, Takeya H, Miyata T, Suehiro K, Okamura T, Niho Y, Iwanaga S.

J Biol Chem. 1993 Nov 15;268(32):24041-6.

PMID:
8226948
[PubMed - indexed for MEDLINE]
Free Article
19.

Factor IX mutations in haemophilia B patients in Malaysia: a preliminary study.

Balraj P, Ahmad M, Khoo AS, Ayob Y.

Malays J Pathol. 2012 Jun;34(1):67-9.

PMID:
22870602
[PubMed - indexed for MEDLINE]
Free Article
20.

Blood clotting factor IX Nagoya 3: the molecular defect of zymogen activation caused by an arginine-145 to histidine substitution.

Suehiro K, Miyata T, Takeya H, Takamatsu J, Saito H, Murakawa M, Okamura T, Niho Y, Iwanaga S.

Thromb Res. 1990 Nov 15;60(4):311-20.

PMID:
2087690
[PubMed - indexed for MEDLINE]

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