Lista de obras -

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2014

Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 8 de enero de 2013

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis

artículo científico publicado en 2020

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

artículo científico publicado en 2002

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

artículo científico publicado en 2018

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

artículo científico publicado el 1 de octubre de 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado el 25 de mayo de 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 ⬇️

artículo científico publicado el 16 de diciembre de 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).

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 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).