Lista de obras -

A Novel Frameshift Mutation in the FGA Gene (c.196 delT) Leading to Congenital Afibrinogenemia

artículo científico publicado en 2020

A Novel Nonsense Mutation in <i>FGB</i> (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype

artículo científico publicado en 2020

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

artículo científico publicado en 2016

A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family ⬇️

artículo científico publicado el 1 de marzo de 2011

A novel regulatory element between the human FGA and FGG genes ⬇️

artículo científico publicado el 26 de julio de 2012

Clinical Consequences and Molecular Bases of Low Fibrinogen Levels.

artículo científico publicado en 2018

Clinical Features and Management of Congenital Fibrinogen Deficiencies.

artículo científico publicado en 2016

Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family ⬇️

artículo científico publicado el 29 de diciembre de 2010

DNA Methylation Profiling of the Fibrinogen Gene Landscape in Human Cells and during Mouse and Zebrafish Development ⬇️

artículo científico publicado el 21 de agosto de 2013

Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrogenemia.

artículo científico publicado en 1999

Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management

artículo científico

Fibrin(ogen) in human disease: both friend and foe

scientific article published on 31 January 2020

Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function

artículo científico publicado en 2009

Fibrinogen gene regulation ⬇️

artículo científico publicado el 26 de julio de 2012

Fibrinogen Łódź: a new cause of dysfibrinogenemia associated with recurrent thromboembolic arterial events

artículo científico publicado en 2019

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

artículo científico publicado en 2016

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

artículo científico publicado en 2016

Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations

scientific article published on 24 August 2019

Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation.

artículo científico publicado en 2017

Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis.

artículo científico publicado en 2017

Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob ‘A’ ⬇️

artículo científico publicado el 30 de agosto de 2010

Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency ⬇️

artículo científico publicado el 1 de abril de 2012

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

artículo científico publicado en 2017

Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes

artículo científico

Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders

artículo científico publicado en 2016

Local chromatin interactions contribute to expression of the fibrinogen gene cluster

artículo científico publicado en 2018

Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia ⬇️

artículo científico publicado el 1 de septiembre de 2012

Mutational Epidemiology of Congenital Fibrinogen Disorders

artículo científico publicado en 2018

Obstetrical and postpartum complications in women with hereditary fibrinogen disorders: A systematic literature review

scientific article published on 31 July 2019

Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype

artículo científico publicado en 2020

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.

artículo científico publicado en 2017

Targeted mutation of zebrafish fga models human congenital afibrinogenemia

artículo científico publicado en 2014

The Locus for Combined Factor V-Factor VIII Deficiency (F5F8D) Maps to 18q21, between D18S849 and D18S1103 ⬇️

artículo científico publicado el 1 de julio de 1997

Treatment of congenital fibrinogen disorders

artículo científico publicado en 2008

Two different fibrinogen gene mutations associated with bleeding in the same family (AαGly13Glu and γGly16Ser) and their impact on fibrin clot properties: Fibrinogen Krakow II and Krakow III ⬇️

artículo científico publicado el 4 de julio de 2011

Lista de obras de

A Novel Frameshift Mutation in the FGA Gene (c.196 delT) Leading to Congenital Afibrinogenemia

A Novel Nonsense Mutation in <i>FGB</i> (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family ⬇️

A novel regulatory element between the human FGA and FGG genes ⬇️

Clinical Consequences and Molecular Bases of Low Fibrinogen Levels.

Clinical Features and Management of Congenital Fibrinogen Deficiencies.

Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family ⬇️

DNA Methylation Profiling of the Fibrinogen Gene Landscape in Human Cells and during Mouse and Zebrafish Development ⬇️

Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrogenemia.

Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management

Fibrin(ogen) in human disease: both friend and foe

Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function

Fibrinogen gene regulation ⬇️

Fibrinogen Łódź: a new cause of dysfibrinogenemia associated with recurrent thromboembolic arterial events

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations

Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation.

Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis.

Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob ‘A’ ⬇️

Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency ⬇️

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes

Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders

Local chromatin interactions contribute to expression of the fibrinogen gene cluster

Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia ⬇️

Mutational Epidemiology of Congenital Fibrinogen Disorders

Obstetrical and postpartum complications in women with hereditary fibrinogen disorders: A systematic literature review

Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.

Targeted mutation of zebrafish fga models human congenital afibrinogenemia

The Locus for Combined Factor V-Factor VIII Deficiency (F5F8D) Maps to 18q21, between D18S849 and D18S1103 ⬇️

Treatment of congenital fibrinogen disorders

Two different fibrinogen gene mutations associated with bleeding in the same family (AαGly13Glu and γGly16Ser) and their impact on fibrin clot properties: Fibrinogen Krakow II and Krakow III ⬇️