List of works - Marguerite Neerman-Arbez

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

scientific article published on 01 March 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

scientific article published on 13 December 2020

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

scientific article published on 15 April 2016

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

scientific article published on 01 March 2011

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

scientific article published on July 26, 2012

Clinical Consequences and Molecular Bases of Low Fibrinogen Levels.

scientific article published on 8 January 2018

Clinical Features and Management of Congenital Fibrinogen Deficiencies.

scientific article published on 28 March 2016

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

scientific article published on December 29, 2010

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

scientific article published in March 1999

Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management

scientific article published on 02 May 2015

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

scientific article published on 01 May 2009

Fibrinogen gene regulation ⬇️

scientific article published on July 26, 2012

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

scientific article published on 09 October 2019

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

scientific article published on September 2016

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

scientific article published on 10 August 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.

scientific article published on 16 February 2017

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

scientific article published on 28 October 2017

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

scientific article published on August 30, 2010

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

scientific article published on 01 April 2012

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

scientific article

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

scientific article published on 10 June 2015

Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders

scientific article published on 28 March 2016

Local chromatin interactions contribute to expression of the fibrinogen gene cluster

scientific article published on 23 August 2018

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

scientific article published on September 1, 2012

Mutational Epidemiology of Congenital Fibrinogen Disorders

scientific article published on 17 October 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

scientific article published on 25 January 2020

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.