Lista de obras - Christine Vinciguerra - Dominio Público Uruguay

A nonsense mutation in the GPIIb heavy chain (Ser 870-->stop) impairs platelet GPIIb-IIIa expression

artículo científico publicado en 1996

A unique combination of inhibitory and partially activating mutations in β3 of a patient with variant-type Glanzmann thrombasthenia

Analyses of the FranceCoag cohort support immunogenicity differences among one plasma-derived and two recombinant factor VIII brands in boys with severe hemophilia A.

artículo científico publicado en 2017

Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.

artículo científico publicado en 2005

Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations

artículo científico publicado en 2006

Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.

artículo científico publicado en 2016

Characterization of four novel molecular changes in the promoter region of the factor VIII gene

artículo científico publicado en 2013

Combined factor IX and protein C deficiency in a child: thrombogenic effects of two factor IX concentrates.

artículo científico publicado en 1995

Combined hereditary disorders of haemophilia B Leyden (-6 G-->A) and type 1 von Willebrand disease

artículo científico publicado en 1996

Contribution of genetical analysis for diagnosis of von Willebrand's disease type 2B.

artículo científico publicado en 2009

Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes

artículo científico publicado en 2001

Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease.

artículo científico publicado en 2017

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort

artículo científico publicado en 2015

Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations

scientific article published on 01 November 1999

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

artículo científico publicado en 1995

First report of molecular diagnosis of Tunisian hemophiliacs A: Identification of 8 novel causative mutations ⬇️

artículo científico publicado el 10 de agosto de 2012

Four cases of hypofibrinogenemia associated with four novel mutations

artículo científico publicado en 2005

Genotyping might help therapeutic decision-making in patients with von Willebrand disease type 2 B.

artículo científico publicado en 2016

Identification of new and known polymorphisms in glycoprotein IIb and IIIa genes by denaturing gradient gel electrophoresis.

artículo científico publicado en 1998

Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia.

artículo científico publicado en 1998

Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.

artículo científico publicado en 2017

Molecular study of Glanzmann thrombasthenia in 3 patients issued from 2 different families

artículo científico publicado en 1995

Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis.

artículo científico publicado en 2010

Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.

artículo científico publicado en 2018

Recombinant factor VIII products and inhibitor development in previously untreated boys with severe hemophilia A.

artículo científico publicado en 2014

Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts

artículo científico publicado en 2018

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

artículo científico publicado en 2002

Student assessment of pharmacy practice experiences in France: a national survey

artículo científico publicado en 2013

Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.

artículo científico publicado en 2016

Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.

artículo científico publicado en 2006

Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy.

artículo científico publicado en 2003

Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency.

artículo científico publicado en 2015

Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?

artículo científico publicado en 2017

[Contribution of genetic analysis in management of hemophilie patients]

artículo científico publicado en 2010

[Hemophilia. Diagnosis, genetics, complications]

artículo científico publicado en 1998

[Identification of knowledge deficits of pharmacy students at the beginning of the fifth year of pharmacy practice experience: Proposals to change the content of academic programs]

artículo científico publicado en 2016

Lista de obras de Christine Vinciguerra

A nonsense mutation in the GPIIb heavy chain (Ser 870-->stop) impairs platelet GPIIb-IIIa expression

A unique combination of inhibitory and partially activating mutations in β3 of a patient with variant-type Glanzmann thrombasthenia

Analyses of the FranceCoag cohort support immunogenicity differences among one plasma-derived and two recombinant factor VIII brands in boys with severe hemophilia A.

Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.

Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations

Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.

Characterization of four novel molecular changes in the promoter region of the factor VIII gene

Combined factor IX and protein C deficiency in a child: thrombogenic effects of two factor IX concentrates.

Combined hereditary disorders of haemophilia B Leyden (-6 G-->A) and type 1 von Willebrand disease

Contribution of genetical analysis for diagnosis of von Willebrand's disease type 2B.

Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes

Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease.

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort

Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

First report of molecular diagnosis of Tunisian hemophiliacs A: Identification of 8 novel causative mutations ⬇️

Four cases of hypofibrinogenemia associated with four novel mutations

Genotyping might help therapeutic decision-making in patients with von Willebrand disease type 2 B.

Identification of new and known polymorphisms in glycoprotein IIb and IIIa genes by denaturing gradient gel electrophoresis.

Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia.

Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.

Molecular study of Glanzmann thrombasthenia in 3 patients issued from 2 different families

Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis.

Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.

Recombinant factor VIII products and inhibitor development in previously untreated boys with severe hemophilia A.

Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

Student assessment of pharmacy practice experiences in France: a national survey

Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.

Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.

Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy.

Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency.

Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?

[Contribution of genetic analysis in management of hemophilie patients]

[Hemophilia. Diagnosis, genetics, complications]

[Identification of knowledge deficits of pharmacy students at the beginning of the fifth year of pharmacy practice experience: Proposals to change the content of academic programs]