List of works - Muriel Giansily-Blaizot

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

scientific article published on 01 December 2007

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

scientific article published on 01 July 2006

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

scientific article published in June 2004

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

scientific article published on 01 August 2007

Coagulation factor VII variants resistant to inhibitory antibodies

scientific article published on 07 August 2014

Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency

scientific article published on 01 March 2002

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

scientific article published on 01 November 2018

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

scientific article published on 19 October 2007

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

scientific article published on 8 December 2009

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

scientific article published on January 8, 2013

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis

scientific article published on 12 November 2020

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

scientific article

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

scientific article published on 31 August 2018

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

scientific article published on October 1, 2012

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

scientific article

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

scientific article published on 21 March 2019

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

scientific article published on May 25, 2012

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

scientific article published on 02 September 2014

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

scientific article published on 01 July 2002

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

scientific article published on 29 March 2019

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

scientific article published on December 16, 2011

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

scientific article published on 04 July 2019

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

scientific article published on 01 November 2005

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

scientific article published on 12 February 2013

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

scientific article published on 3 November 2017

The EAHAD Blood Coagulation Factor VII Variant Database

scientific article published on 25 April 2020

The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers

scientific article published on 13 March 2020

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

scientific article

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

scientific article

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

scientific article published on 01 January 2003

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).

scientific article

List of works by Muriel Giansily-Blaizot

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

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

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

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

Coagulation factor VII variants resistant to inhibitory antibodies

Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency

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

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

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

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

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The EAHAD Blood Coagulation Factor VII Variant Database

The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers

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

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

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

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).