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Items: 1 to 20 of 106

1.

Factor VII deficiency and the FVII mutation database.

McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG.

Hum Mutat. 2001;17(1):3-17. Review.

PMID:
11139238
2.

Twenty two novel mutations of the factor VII gene in factor VII deficiency.

Wulff K, Herrmann FH.

Hum Mutat. 2000;15(6):489-96.

PMID:
10862079
3.

Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.

Millar DS, Kemball-Cook G, McVey JH, Tuddenham EG, Mumford AD, Attock GB, Reverter JC, Lanir N, Parapia LA, Reynaud J, Meili E, von Felton A, Martinowitz U, Prangnell DR, Krawczak M, Cooper DN.

Hum Genet. 2000 Oct;107(4):327-42.

PMID:
11129332
4.

Prevalence of factor VII deficiency and molecular characterization of the F7 gene in Brazilian patients.

Rodrigues DN, Siqueira LH, Galizoni AM, Arruda VR, Annichino-Bizzacchi JM.

Blood Coagul Fibrinolysis. 2003 Apr;14(3):289-92.

PMID:
12695753
5.

Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications.

Sabater-Lleal M, Martínez-Marchán E, Martínez-Sánchez E, Coll M, Vallvé C, Mateo J, Souto JC, Fontcuberta J, Soria JM.

Haematologica. 2003 Aug;88(8):906-13.

6.

[Molecular genetics and clinical features of nine patients with inherited coagulation factor VII deficiency].

Jin YH, Wang MS, Zheng FX, Xie YS, Xie HX, Xu PF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):404-7. doi: 10.3760/cma.j.issn.1003-9406.2012.04.006. Chinese.

PMID:
22875495
7.

Inherited factor VII deficiency: identification of two novel mutations (A191V and T239P) in the catalytic domain.

Borensztajn K, Chafa O, Le Bonniec B, Wajcman H, Reghis A, Fischer AM, Tapon-Bretaudière J.

Thromb Res. 2005;116(2):115-20. Epub 2004 Dec 8.

PMID:
15907525
8.

Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea.

Kwon MJ, Yoo KY, Lee KO, Kim SH, Kim HJ.

Blood Coagul Fibrinolysis. 2011 Mar;22(2):102-5. doi: 10.1097/MBC.0b013e328343641a.

PMID:
21206266
9.

The paradoxical association between inherited factor VII deficiency and venous thrombosis.

Marty S, Barro C, Chatelain B, Fimbel B, Tribout B, Reynaud J, Schved JF, Giansily-Blaizot M.

Haemophilia. 2008 May;14(3):564-70. doi: 10.1111/j.1365-2516.2007.01647.x. Epub 2008 Feb 13.

PMID:
18282149
10.

Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency.

McVey JH, Boswell EJ, Takamiya O, Tamagnini G, Valente V, Fidalgo T, Layton M, Tuddenham EG.

Blood. 1998 Aug 1;92(3):920-6.

11.

Molecular characterization of four novel mutations causing factor VII deficiency.

Tamary H, Fromovich-Amit Y, Shalmon L, Zaizov R, Yaniv I, Klar A, Peretz H, Brenner B, Lanir N, Zivelin A, Seligsohn U.

Hematol J. 2000;1(6):382-9.

PMID:
11920218
12.

Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency.

Peyvandi F, Jenkins PV, Mannucci PM, Billio A, Zeinali S, Perkins SJ, Perry DJ.

Thromb Haemost. 2000 Aug;84(2):250-7.

PMID:
10959697
13.

Use of thromboelastography and thrombin generation assay to predict clinical phenotype in patients with severe FVII deficiency.

Tran HT, Tjønnfjord GE, Holme PA.

Haemophilia. 2014 Jan;20(1):141-6. doi: 10.1111/hae.12256. Epub 2013 Aug 28.

PMID:
23992369
14.

Coinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G>A (FVII Lazio) mutation.

Castoldi E, Govers-Riemslag JW, Pinotti M, Bindini D, Tans G, Berrettini M, Mazzucconi MG, Bernardi F, Rosing J.

Blood. 2003 Dec 1;102(12):4014-20. Epub 2003 Jul 24.

15.

Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree.

Yu T, Wang X, Ding Q, Fu Q, Dai J, Lu Y, Xi X, Wang H.

Haemophilia. 2009 Nov;15(6):1262-6. doi: 10.1111/j.1365-2516.2009.02064.x. Epub 2009 Jul 10.

PMID:
19601987
16.

Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms.

Pavlova A, Preisler B, Driesen J, de Moerloose P, Zieger B, Hütker S, Dengler K, Harbrecht U, Oldenburg J.

Haemophilia. 2015 May;21(3):386-91. doi: 10.1111/hae.12604. Epub 2015 Jan 13.

PMID:
25582404
17.

Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency.

Borhany M, Boijout H, Pellequer JL, Shamsi T, Moulis G, Aguilar-Martinez P, Schved JF, Giansily-Blaizot M.

Haemophilia. 2013 Nov;19(6):893-7. doi: 10.1111/hae.12186. Epub 2013 Jun 4.

PMID:
23731332
18.

[Molecular analysis of two pedigrees with inherited coagulation factor VII deficiency].

Liang WL, Wei HY, Lin FQ, Zhou JL.

Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):817-20. Chinese.

PMID:
23302610
19.

Impaired secretion of carboxyl-terminal truncated factor VII due to an F7 nonsense mutation associated with FVII deficiency.

Tanaka R, Nakashima D, Suzuki A, Miyawaki Y, Fujimori Y, Yamada T, Takagi A, Murate T, Yamamoto K, Katsumi A, Matsushita T, Naoe T, Kojima T.

Thromb Res. 2010 Mar;125(3):262-6. doi: 10.1016/j.thromres.2009.09.014. Epub 2009 Oct 12.

PMID:
19822353
20.

[Phenotype and genotype analysis for a consanguineous pedigree with combined coagulation factor VII and X deficiency].

Jin Y, Wang M, Wang Y, Yang X, Yang L, Xie Y, Xie H, Zhu L, Yu F.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Feb;31(1):16-20. doi: 10.3760/cma.j.issn.1003-9406.2014.01.004. Chinese.

PMID:
24510554

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