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Items: 1 to 20 of 609

1.

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.

PMID:
18282149
2.

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.

3.

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
4.

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
5.

Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency.

Giansily-Blaizot M, Thorel D, Khau Van Kien P, Behar C, Romey MC, Mugneret F, Schved JF, Claustres M.

Br J Haematol. 2007 Aug;138(3):359-65.

PMID:
17614823
6.
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.

PMID:
15907525
8.

Factor VII coagulant activity, factor VII -670A/C and -402G/A polymorphisms, and risk of venous thromboembolism.

Folsom AR, Cushman M, Heckbert SR, Ohira T, Rasmussen-Torvik L, Tsai MY.

J Thromb Haemost. 2007 Aug;5(8):1674-8.

9.

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
10.

Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia.

Elmahmoudi H, Ben-Lakhal F, Elborji W, Jlizi A, Zahra K, Sassi R, Zorgan M, Meddeb B, Elgaaied Ben Ammar A, Gouider E.

Diagn Pathol. 2012 Aug 8;7:92. doi: 10.1186/1746-1596-7-92.

11.

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.

PMID:
19601987
12.

Pathogenetic role of Factor VII deficiency and thrombosis in cross-reactive material positive patients.

Girolami A, Sambado L, Bonamigo E, Ferrari S, Lombardi AM.

Lab Hematol. 2013 Dec;19(4):17-21. doi: 10.1532/LH96.12011.

PMID:
24370871
13.

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
14.

[Novel double heterozygous mutations on Met306Val and Thr181Asn related to a hereditary coagulation factor VII deficiency].

Tu CQ, Deng CY, Wu JZ, Pan CY, Xie CY.

Zhonghua Yi Xue Za Zhi. 2006 Jan 10;86(2):124-7. Chinese.

PMID:
16620721
15.

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.

PMID:
23731332
16.

Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop).

Giansily-Blaizot M, Aguilar-Martinez P, Briquel ME, d'Oiron R, De Maistre E, Epelbaum S, Schved JF.

Blood Coagul Fibrinolysis. 2003 Feb;14(2):217-20. Review.

PMID:
12632035
17.

Associated prothrombotic conditions are probably responsible for the occurrence of thrombosis in almost all patients with congenital FVII deficiency. Critical review of the literature.

Girolami A, Tezza F, Scandellari R, Vettore S, Girolami B.

J Thromb Thrombolysis. 2010 Aug;30(2):172-8. doi: 10.1007/s11239-009-0435-y. Review.

PMID:
20044773
18.

Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk?

Giansily-Blaizot M, Verdier R, Biron-Adréani C, Schved JF, Bertrand MA, Borg JY, Le Cam-Duchez V, Briquel ME, Chambost H, Pouymayou K, Dutrillaux F, Favier R, Martin-Toutain I, Verdy E, Gay V, Goudemand J, Navarro R, Durin A, d'Oiron R, Lambert T, Pernod G, Barrot C, Peynet J, Bastenaire B, Sie P, Stieltjes N, Torchet MF, de Moerloose P; Study group of FVII deficiency..

Haematologica. 2004 Jun;89(6):704-9. Erratum in: Haematologica. 2007 Nov;92(11):1584. LeCam-Duchez, V [corrected to Le Cam-Duchez, V].

19.

Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency.

Giansily-Blaizot M, Aguilar-Martinez P, Biron-Andreani C, Jeanjean P, Igual H, Schved JF; Study Group of Factor Seven Deficiency..

Eur J Hum Genet. 2001 Feb;9(2):105-12.

20.

Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India.

Mota L, Shetty S, Idicula-Thomas S, Ghosh K.

Clin Chim Acta. 2009 Nov;409(1-2):106-11. doi: 10.1016/j.cca.2009.09.007.

PMID:
19751712
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