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Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management

Journal of thrombosis and haemostasis, 2015-06, Vol.13 (6), p.909-919

2015

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

Journal of thrombosis and haemostasis, 2017-05, Vol.15 (5), p.876-888

2017

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Local chromatin interactions contribute to expression of the fibrinogen gene cluster

Journal of thrombosis and haemostasis, 2018-10, Vol.16 (10), p.2070-2082

2018

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Afibrinogenemia with two compound heterozygous mutations in FGA gene

Haemophilia : the official journal of the World Federation of Hemophilia, 2021-09, Vol.27 (5), p.e641-e644

2021

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Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins

Journal of thrombosis and haemostasis, 2007-07, Vol.5 (s1), p.125-131

2007

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Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature

Haemophilia : the official journal of the World Federation of Hemophilia, 2015-11, Vol.21 (6), p.820-827

2015

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Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia

Haemophilia : the official journal of the World Federation of Hemophilia, 2017-07, Vol.23 (4), p.583-589

2017

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Successful pregnancy under fibrinogen substitution in a woman with congenital afibrinogenaemia complicated by a postpartum venous thrombosis

Haemophilia : the official journal of the World Federation of Hemophilia, 2015-01, Vol.21 (1), p.e108-e110

2015

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FGB mutations leading to congenital quantitative fibrinogen deficiencies: An update and report of four novel mutations

Thrombosis research, 2014-05, Vol.133 (5), p.868-874

2014

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In vitro rescue of FGA deletion by lentiviral transduction of an afibrinogenemic patient's hepatocytes

Journal of thrombosis and haemostasis, 2014-11, Vol.12 (11), p.1874-1879

2014

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To aggregate or not to aggregate

Journal of thrombosis and haemostasis, 2007-10, Vol.5 (10), p.1997-1998

NEERMAN‐ARBEZ, M.

2007

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Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the γ chain globular domain impairing fibrinogen secretion

Journal of medical genetics, 2005-09, Vol.42 (9), p.e57-e57

2005

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Fibrinogen gene regulation

Thrombosis and haemostasis, 2012-09, Vol.108 (3), p.419

2012

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Coexisting dysfibrinogenemia (γArg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete)

Thrombosis research, 2010-08, Vol.126 (2), p.e162-e164

2010

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The molecular basis of inherited afibrinogenaemia

Thrombosis and haemostasis, 2001-07, Vol.86 (1), p.154

Neerman-Arbez, M

2001

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Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants

Haematologica (Roma), 2008-02, Vol.93 (2), p.224-231

2008

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Fibrinogen Gene Mutations Accounting for Congenital Afibrinogenemia

Annals of the New York Academy of Sciences, 2001-01, Vol.936 (1), p.496-508

NEERMAN-ARBEZ, MARGUERITE

2001

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A novel regulatory element between the human FGA and FGG genes

Thrombosis and haemostasis, 2012-09, Vol.108 (3), p.427

2012

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Novel, non-crinophagic, degradation of connecting peptide in transformed pancreatic beta cells

The Journal of biological chemistry, 1993-08, Vol.268 (22), p.16248-16252

1993

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Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia : novel truncating mutations in the FGA and FGG genes

Human genetics, 2001-03, Vol.108 (3), p.237-240

2001

Volltextzugriff (PDF)

A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream

Blood coagulation & fibrinolysis, 2009-07, Vol.20 (5), p.385-387

2009

Volltextzugriff (PDF)

Congenital afibrinogenemia: focusing on molecular mechanisms controlling fibrinogen secretion

M.S. Médecine sciences, 2006-02, Vol.22 (2), p.117-120

2006

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Molecular Analysis of the ERGIC-53 Gene in 35 Families With Combined Factor V-Factor VIII Deficiency

Blood, 1999-04, Vol.93 (7), p.2253-2260

1999

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Developmental expression and organisation of fibrinogen genes in the zebrafish

Thrombosis and haemostasis, 2012-01, Vol.107 (1), p.158

2012

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Human proinsulin conversion in the regulated and the constitutive pathways of transfected AtT20 cells

The Journal of biological chemistry, 1994-01, Vol.269 (3), p.1756-1762

1994

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Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management

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

Local chromatin interactions contribute to expression of the fibrinogen gene cluster

Afibrinogenemia with two compound heterozygous mutations in FGA gene

Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins

Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia

Successful pregnancy under fibrinogen substitution in a woman with congenital afibrinogenaemia complicated by a postpartum venous thrombosis

FGB mutations leading to congenital quantitative fibrinogen deficiencies: An update and report of four novel mutations

In vitro rescue of FGA deletion by lentiviral transduction of an afibrinogenemic patient's hepatocytes

To aggregate or not to aggregate

Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the γ chain globular domain impairing fibrinogen secretion

Fibrinogen gene regulation

Coexisting dysfibrinogenemia (γArg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete)

The molecular basis of inherited afibrinogenaemia

Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants

Fibrinogen Gene Mutations Accounting for Congenital Afibrinogenemia

A novel regulatory element between the human FGA and FGG genes

Novel, non-crinophagic, degradation of connecting peptide in transformed pancreatic beta cells

Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia : novel truncating mutations in the FGA and FGG genes

A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream

Congenital afibrinogenemia: focusing on molecular mechanisms controlling fibrinogen secretion

Molecular Analysis of the ERGIC-53 Gene in 35 Families With Combined Factor V-Factor VIII Deficiency

Developmental expression and organisation of fibrinogen genes in the zebrafish

Human proinsulin conversion in the regulated and the constitutive pathways of transfected AtT20 cells

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