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Items: 49

1.

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.

Ferraresi P, Balestra D, Guittard C, Buthiau D, Pan-Petesh B, Maestri I, Farah R, Pinotti M, Giansily-Blaizot M.

Haematologica. 2019 Jul 4. pii: haematol.2019.217539. doi: 10.3324/haematol.2019.217539. [Epub ahead of print]

2.

[False positive Kleihauer test and hereditary persistence of fetal hemoglobin].

Picard L, Delabaere A, Serre Sapin AF, Giansily Blaizot M, Gallot D.

Gynecol Obstet Fertil Senol. 2019 Jul - Aug;47(7-8):612-614. doi: 10.1016/j.gofs.2019.06.006. Epub 2019 Jun 19. French. No abstract available.

PMID:
31228651
3.

Molecular analysis of eight severe FV-deficient patients in Pakistan: A large series of homozygous for frameshift mutations.

Borhany M, Ranc A, Fretigny M, Moulis G, Abid M, Shamsi T, Giansily-Blaizot M.

Haemophilia. 2019 Jul;25(4):e278-e281. doi: 10.1111/hae.13741. Epub 2019 Mar 29. No abstract available.

PMID:
30924984
4.

Kinetics of the coagulation cascade including the contact activation system: sensitivity analysis and model reduction.

Méndez Rojano R, Mendez S, Lucor D, Ranc A, Giansily-Blaizot M, Schved JF, Nicoud F.

Biomech Model Mechanobiol. 2019 Aug;18(4):1139-1153. doi: 10.1007/s10237-019-01134-4. Epub 2019 Mar 21.

PMID:
30900051
5.

Genotyping of five Pakistani patients with severe inherited factor X deficiency: identification of two novel mutations.

Borhany M, Buthiau D, Rousseau F, Guillot O, Naveena F, Abid M, Shamsi T, Giansily-Blaizot M.

Blood Coagul Fibrinolysis. 2018 Nov;29(7):622-625. doi: 10.1097/MBC.0000000000000764.

PMID:
30036279
6.

Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.

Orvain C, Da Costa L, Van Wijk R, Pissard S, Picard V, Mansour-Hendili L, Cunat S, Giansily-Blaizot M, Cartron G, Schved JF, Aguilar-Martinez P.

Eur J Haematol. 2018 Oct;101(4):566-569. doi: 10.1111/ejh.13135. Epub 2018 Aug 31.

PMID:
29969830
7.

Recombinant human factor VIIa (rFVIIa) in hemophilia: mode of action and evidence to date.

Giansily-Blaizot M, Schved JF.

Ther Adv Hematol. 2017 Dec;8(12):345-352. doi: 10.1177/2040620717737701. Epub 2017 Nov 3. Review.

8.

Circulating FVIII-specific IgG, IgA and IgM memory B cells from haemophilia A patients.

Diaz I, Bolloré K, Tuaillon E, Lapalud P, Giansily-Blaizot M, Vendrell JP, Schved JF, Lavigne-Lissalde G.

Haemophilia. 2016 Sep;22(5):799-805. doi: 10.1111/hae.12958. Epub 2016 Jul 21.

PMID:
27439547
9.

Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies.

Napolitano M, Di Minno MN, Batorova A, Dolce A, Giansily-Blaizot M, Ingerslev J, Schved JF, Auerswald G, Kenet G, Karimi M, Shamsi T, Ruiz de Sáez A, Dolatkhah R, Chuansumrit A, Bertrand MA, Mariani G.

Haemophilia. 2016 Sep;22(5):752-9. doi: 10.1111/hae.12978. Epub 2016 Jun 24.

PMID:
27338009
10.

Two new double mutant alleles of the F7 gene and a literature review on alleles with two mutations in FVII deficiency.

Giansily-Blaizot M, Kolaitis N, Borhany M, Moulis G, Guillot O, Shamsi T.

Haemophilia. 2016 Jul;22(4):e304-6. doi: 10.1111/hae.12897. Epub 2016 May 26. No abstract available.

PMID:
27227566
11.

Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology.

Pfeiffer C, Mathieu-Dupas E, Logghe P, Lissalde-Lavigne G, Balicchi J, Caliskan U, Valentin T, Laune D, Molina F, Schved JF, Giansily-Blaizot M.

Thromb Res. 2016 May;141:22-7. doi: 10.1016/j.thromres.2016.02.021. Epub 2016 Feb 23.

PMID:
26962982
12.

The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.

Funakoshi N, Chaze I, Alary AS, Tachon G, Cunat S, Giansily-Blaizot M, Bismuth M, Larrey D, Pageaux GP, Schved JF, Donnadieu-Rigole H, Blanc P, Aguilar-Martinez P.

Liver Int. 2016 May;36(5):746-54. doi: 10.1111/liv.12984. Epub 2015 Nov 7.

PMID:
26474245
13.

Replacement therapy in inherited factor VII deficiency: occurrence of adverse events and relation with surgery.

Napolitano M, Dolce A, Batorova A, Giansily-Blaizot M, Ingerslev J, Mirbehbahani N, Di Minno MN, Lopez Fernandez MF, Karimi M, Charoenkwan P, Kavakli K, Mariani G.

Haemophilia. 2015 Nov;21(6):e513-7. doi: 10.1111/hae.12782. Epub 2015 Aug 7. No abstract available.

PMID:
26249164
14.

A new report of FVII-inhibitor in a patient suffering from severe congenital FVII deficiency.

Borhany M, Delbes C, Giansily-Blaizot M, Zubair M, Ahmed MS, Fatima N, Shamsi T.

Haemophilia. 2015 Jul;21(4):e336-8. doi: 10.1111/hae.12708. Epub 2015 May 8. No abstract available.

PMID:
25955166
15.

Life-threatening bleeding in factor VII deficiency: the role of prenatal diagnosis and primary prophylaxis.

Farah R, Al Danaf J, Braiteh N, Costa JM, Farhat H, Mariani G, Giansily-Blaizot M.

Br J Haematol. 2015 Feb;168(3):452-5. doi: 10.1111/bjh.13106. Epub 2014 Sep 2. No abstract available.

PMID:
25179859
16.

Coagulation factor VII variants resistant to inhibitory antibodies.

Branchini A, Baroni M, Pfeiffer C, Batorova A, Giansily-Blaizot M, Schved JF, Mariani G, Bernardi F, Pinotti M.

Thromb Haemost. 2014 Nov;112(5):972-80. doi: 10.1160/TH14-03-0198. Epub 2014 Aug 7.

PMID:
25104096
17.

A Haut-Doubs FVII variant depending on species-derived-thromboplastin reagent (F7:p.Arg337His).

Mourey G, Tachon G, Pellequer JL, Zawadzki C, Trossaërt M, Bertrand MA, Schved JF, Giansily-Blaizot M.

Haemophilia. 2014 Jul;20(4):e347-9. doi: 10.1111/hae.12455. Epub 2014 May 8. No abstract available.

PMID:
24805822
18.

Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolonged pharmacodynamic effect.

Morfini M, Batorova A, Mariani G, Auerswald G, Bernardi F, Di Minno G, Dolce A, Fede C, Giansily-Blaizot M, Ingerslev J, Martinowitz U, Napolitano M, Pinotti M, Schved JF; International FVII [IF7] and Seven Treatment Evaluation Registry [STER] Study Groups.

Thromb Haemost. 2014 Aug;112(2):424-5. doi: 10.1160/TH13-12-1045. Epub 2014 Apr 24. No abstract available.

PMID:
24763923
19.

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
20.

[Rare bleeding disorders and invasive procedures].

Bonhomme F, Schved JF, Giansily-Blaizot M, Samama CM, de Moerloose P.

Ann Fr Anesth Reanim. 2013 Mar;32(3):198-205. doi: 10.1016/j.annfar.2013.01.019. Epub 2013 Feb 17. Review. French.

PMID:
23422342
21.

Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER).

Napolitano M, Giansily-Blaizot M, Dolce A, Schved JF, Auerswald G, Ingerslev J, Bjerre J, Altisent C, Charoenkwan P, Michaels L, Chuansumrit A, Di Minno G, Caliskan U, Mariani G.

Haematologica. 2013 Apr;98(4):538-44. doi: 10.3324/haematol.2012.074039. Epub 2013 Feb 12.

22.

Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.

Giansily-Blaizot M, Cunat S, Moulis G, Schved JF, Aguilar-Martinez P.

Haematologica. 2013 Apr;98(4):e42-3. doi: 10.3324/haematol.2012.077198. Epub 2013 Jan 8. No abstract available.

23.

Is the coexistence of thromboembolic events and Factor VII deficiency fortuitous?

Giansily-Blaizot M, Marty S, Chen SW, Pellequer JL, Schved JF.

Thromb Res. 2012 Oct;130 Suppl 1:S47-9. doi: 10.1016/j.thromres.2012.08.273. Review.

PMID:
23026661
24.

Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site.

Giansily-Blaizot M, Lopez E, Viart V, Chafa O, Tapon-Bretaudière J, Claustres M, Taulan M.

Thromb Haemost. 2012 Aug;108(2):277-83. doi: 10.1160/TH11-09-0638. Epub 2012 May 25.

PMID:
22628013
25.

Invasive procedures and minor surgery in factor VII deficiency.

Mariani G, Dolce A, Napolitano M, Ingerslev J, Giansily-Blaizot M, Di Minno MD, Auerswald G, De Saez AR, Tagliaferri A, Batorova A; STER (Seven Treatment Evaluation Registry).

Haemophilia. 2012 May;18(3):e63-5. doi: 10.1111/j.1365-2516.2012.02751.x. Epub 2012 Feb 22. No abstract available.

PMID:
22356641
26.

Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders.

Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B, Pergantou H, Platokouki H, Giangrande P, Peerlinck K, Celkan T, Ozdemir N, Bidlingmaier C, Ingerslev J, Giansily-Blaizot M, Schved JF, Gilmore R, Gadisseur A, Benedik-Dolničar M, Kitanovski L, Mikovic D, Musallam KM, Rosendaal FR; European Network of Rare Bleeding Disorders Group.

J Thromb Haemost. 2012 Apr;10(4):615-21. doi: 10.1111/j.1538-7836.2012.04653.x.

27.

Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.

Branchini A, Rizzotto L, Mariani G, Napolitano M, Lapecorella M, Giansily-Blaizot M, Mari R, Canella A, Pinotti M, Bernardi F.

Haematologica. 2012 May;97(5):705-9. doi: 10.3324/haematol.2011.049403. Epub 2011 Dec 16.

28.

Successful prophylactic use of recombinant activated factor VII (rFVIIa) in a patient with congenital FVII deficiency and inhibitors to FVII.

Tokgoz H, Caliskan U, Lavigne-Lissalde G, Giansily-Blaizot M.

Haemophilia. 2012 Jan;18(1):e25-7. doi: 10.1111/j.1365-2516.2011.02666.x. Epub 2011 Oct 4. No abstract available.

PMID:
21973016
29.

Spontaneous umbilical cord haematoma and congenital factor VII deficiency.

Jouannelle C, Giansily-Blaizot M, Monpoux F, Casagrande F, Poirée M, Bérard E.

Haemophilia. 2012 Jan;18(1):e24-5. doi: 10.1111/j.1365-2516.2011.02664.x. Epub 2011 Oct 4. No abstract available.

PMID:
21967451
30.

A retrospective analysis of 157 surgical procedures performed without replacement therapy in 83 unrelated factor VII-deficient patients.

Benlakhal F, Mura T, Schved JF, Giansily-Blaizot M; French Study Group of Factor VII Deficiency.

J Thromb Haemost. 2011 Jun;9(6):1149-56. doi: 10.1111/j.1538-7836.2011.04291.x.

31.

The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.

Aguilar-Martinez P, Bismuth M, Blanc F, Blanc P, Cunat S, Dereure O, Dujols P, Giansily-Blaizot M, Jorgensen C, Konate A, Larrey D, Le Quellec A, Mura T, Raingeard I, Ramos J, Renard E, Rousseau F, Schved JF, Picot MC.

Haematologica. 2010 Apr;95(4):551-6. doi: 10.3324/haematol.2009.014431. Epub 2010 Feb 9.

32.

HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.

Aguilar-Martinez P, Giansily-Blaizot M, Bismuth M, Cunat S, Igual H, Schved JF.

Haematologica. 2010 Apr;95(4):687-8. doi: 10.3324/haematol.2009.018028. Epub 2009 Dec 8. No abstract available.

33.

Recombinant activated factor VII for a patient with factor VII deficiency undergoing urgent intracerebral haematoma evacuation with underlying cavernous angioma.

Liu N, Aldea S, François D, Cherqui-Michel M, Giansily-Blaizot M, Fischler M.

Br J Anaesth. 2009 Dec;103(6):858-60. doi: 10.1093/bja/aep293. Epub 2009 Oct 20.

34.

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
35.

Global sequencing approach for characterizing the molecular background of hereditary iron disorders.

Cunat S, Giansily-Blaizot M, Bismuth M, Blanc F, Dereure O, Larrey D, Quellec AL, Pouderoux P, Rose C, Raingeard I, Renard E, Schved JF, Aguilar-Martinez P; CHU Montpellier AOI 2004 Working Group.

Clin Chem. 2007 Dec;53(12):2060-9. Epub 2007 Oct 19.

36.

A novel mutation of the beta-globin gene promoter (-102 C>A) and pitfalls in family screening.

Aguilar-Martinez P, Jourdan E, Brun S, Cunat S, Giansily-Blaizot M, Pissard S, Schved JF.

Am J Hematol. 2007 Dec;82(12):1088-90.

37.

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
38.

Successful prophylaxis against intracranial hemorrhage using weekly administration of activated recombinant factor VII in a newborn with severe factor VII deficiency.

Farah RA, Hamod D, Melick N, Giansily-Blaizot M, Sallah S.

J Thromb Haemost. 2007 Feb;5(2):433-4. Epub 2006 Nov 16. No abstract available.

39.

Accurate characterization of the IVS7 repeat polymorphism of FVII gene and identification of three novel allelic forms.

Giansily-Blaizot M, Flory-Pigagniol L, Favier R, Farah RA, Martin-Toutain I, Verdy E, Schved JF.

Thromb Haemost. 2006 Jul;96(1):95-7. No abstract available.

PMID:
16807660
40.

Potential predictors of bleeding risk in inherited factorVII deficiency. Clinical, biological and molecular criteria.

Giansily-Blaizot M, Schved JF.

Thromb Haemost. 2005 Nov;94(5):901-6. Review.

PMID:
16363229
41.

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].

42.

Thrombin generation measurement in factor VII-depleted plasmas compared to inherited factor VII-deficient plasmas.

Giansily-Blaizot M, Al Dieri R, Schved JF.

Pathophysiol Haemost Thromb. 2003;33(1):36-42.

43.

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
44.

Model of a ternary complex between activated factor VII, tissue factor and factor IX.

Chen SW, Pellequer JL, Schved JF, Giansily-Blaizot M.

Thromb Haemost. 2002 Jul;88(1):74-82.

PMID:
12152682
45.

Inherited factor VII deficiency and surgery: clinical data are the best criteria to predict the risk of bleeding.

Giansily-Blaizot M, Biron-Andreani C, Aguilar-Martinez P, de Moeloose P, Briquel ME, Goudemand J, Stieltjes N, Barrot C, Chambost H, Durin A, Gay V, Peynet J, Pouymayou K, Schved JF.

Br J Haematol. 2002 Apr;117(1):172-5.

PMID:
11918551
46.

Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency.

Giansily-Blaizot M, Aguilar-Martinez P, Schved JF.

Haematologica. 2002 Mar;87(3):328-9.

47.

Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis.

Aguilar-Martinez P, Esculié-Coste C, Bismuth M, Giansily-Blaizot M, Larrey D, Schved JF.

Blood Cells Mol Dis. 2001 Jan-Feb;27(1):290-3.

PMID:
11358390
48.

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.

49.

Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis.

Giansily-Blaizot M, Aguilar-Martinez P, Mazurier C, Cneude F, Goudemand J, Schved JF, de Martinville B.

Br J Haematol. 2001 Jan;112(1):251-2. No abstract available.

PMID:
11225604

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