MN
Neerman Arbez, Marguerite
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| The fibrinogen αC region promotes arterial thrombosis in the context of hypofibrinogenemia | Blood | 2026 | 9 | 14 | |||
| Congenital fibrinogen deficiencies : not so rare | Hämostaseologie | 2025 | 46 | 282 | |||
| Gynecologic and obstetric complications in women with congenital fibrinogen disorders: insights from the Prospective Rare Bleeding Disorders Database | Research and practice in thrombosis and haemostasis | 2025 | 26 | 95 | |||
| A novel FGG missense variant associated with fibrinogen storage disease in a large family from Quebec | Haemophilia | 2024 | 78 | 0 | |||
| Perinatal stroke and hypofibrinogenemia : Is the new missense fibrinogen variant γ p.Gly310Glu the cause of the procoagulant state ? | Thrombosis research | 2024 | 93 | 0 | |||
| Composition of thrombi in zebrafish : similarities and distinctions with mammals | Journal of thrombosis and haemostasis | 2024 | 177 | 0 | |||
| Diagnostic value of clot formation parameters determined by rotational thromboelastometry in 63 patients with congenital dysfibrinogenemia | Blood coagulation & fibrinolysis | 2024 | 99 | 140 | |||
| Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database | Blood advances | 2024 | 127 | 152 | |||
| Clinical, laboratory, and molecular aspects of congenital fibrinogen disorders | Seminars in thrombosis and hemostasis | 2024 | 79 | 0 | |||
| Highly thrombogenic phenotype and impaired wound healing in a patient with congenital dysfibrinogenemia : case report | Research and practice in thrombosis and haemostasis | 2024 | 119 | 91 | |||
| Regulation of fibrinogen synthesis | Thrombosis research | 2024 | 90 | 23 | |||
| Physiological correction of hereditary mild hypofibrinogenemia during pregnancy | Haemophilia | 2023 | 218 | 487 | |||
| Coexpression of factor VIII and factor von Willebrand variants in a woman with heavy menstrual bleeding | Blood coagulation & fibrinolysis | 2023 | 77 | 0 | |||
| Fifty years of fibrinogen structure and function | Seminars in thrombosis and hemostasis | 2023 | 128 | 17 | |||
| Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster | Haemophilia | 2022 | 243 | 2 | |||
| One Hundred Years of Congenital Fibrinogen Disorders | Seminars in thrombosis and hemostasis | 2022 | 326 | 0 | |||
| Impact of fibrinogen infusion on thrombin generation and fibrin clot structure in patients with inherited afibrinogenemia | Thrombosis and haemostasis | 2022 | 176 | 2 | |||
| A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family | Haematologica | 2022 | 345 | 256 | |||
| Illustrated state-of-the-art capsules of the ISTH 2020 congress | Research and Practice in Thrombosis and Haemostasis | 2021 | 182 | 138 | |||
| Novel missense mutations affecting the structure of the conserved fibrinogen Bβ C-terminal domain cause congenital hypofibrinogenemia | Thrombosis Research | 2021 | 213 | 188 | |||
| Afibrinogenemia with two compound heterozygous mutations in FGA gene | Haemophilia | 2021 | 284 | 0 | |||
| Fibrin clot properties to assess the bleeding phenotype in unrelated patients with hypodysfibrinogenemia due to novel fibrinogen mutations | Thrombosis research | 2021 | 586 | 4 | |||
| Whole blood thromboelastometry by ROTEM and thrombin generation by genesia according to the genotype and clinical phenotype in congenital fibrinogen disorders | International Journal of Molecular Sciences | 2021 | 231 | 94 | |||
| Chemical modulators of fibrinogen production and their impact on venous thrombosis | Thrombosis and Haemostasis | 2021 | 270 | 263 | |||
| Comparison of different activators of coagulation by turbidity analysis of hereditary dysfibrinogenemia and controls | Blood Coagulation and Fibrinolysis | 2021 | 232 | 0 | |||
| Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literature | Haemophilia | 2021 | 233 | 442 | |||
| Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype | Thrombosis Research | 2020 | 365 | 51 | |||
| Identification and expression of a novel heterozygous frameshift mutation in FGA accounting for congenital hypofibrinogenemia in carriers of severe hemophilia A | Thrombosis Research | 2020 | 273 | 2 | |||
| Case report: unmasked inherited dysfibrinogenemia after everolimus therapy | Frontiers in Medicine | 2020 | 192 | 102 | |||
| Fibrin(ogen) in human disease: both friend and foe | Haematologica | 2020 | 480 | 394 | |||
| MicroRNA-126 is a regulator of platelet-supported thrombin generation | Platelets | 2020 | 313 | 318 | |||
| A novel frameshift mutation in the FGA gene (c.196 delT) leading to congenital afibrinogenemia | Journal of Pediatric Hematology / Oncology | 2020 | 342 | 7 | |||
| A novel nonsense mutation in FBG (c.1421G>A;p.Trp474Ter) in the beta chain of fibrinogen causing hypofibrinogenemia with bleeding phenotype | Biomedicines | 2020 | 282 | 158 | |||
| Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and management | Blood Reviews | 2020 | 267 | 414 | |||
| Hepatocellular type II fibrinogen inclusions in a patient with severe COVID-19 and hepatitis | Journal of Hepatology | 2020 | 412 | 122 | |||
| A genetic modifier of venous thrombosis in zebrafish reveals a functional role for fibrinogen AαE in early hemostasis | Blood Advances | 2020 | 217 | 227 | |||
| Methods to investigate miRNA function: focus on platelet reactivity | Thrombosis and Haemostasis | 2020 | 248 | 176 | |||
| Obstetrical and postpartum complications in women with hereditary fibrinogen disorders: a systematic literature review | Haemophilia | 2019 | 432 | 1 | |||
| Genetic and clinical characterization of congenital fibrinogen disorders in polish patients: identification of three novel fibrinogen gamma chain mutations | Thrombosis Research | 2019 | 281 | 869 | |||
| Fibrinogen Łódź: a new cause of dysfibrinogenemia associated with recurrent thromboembolic arterial events | Polish Archives of Internal Medicine | 2019 | 289 | 167 | |||
| Local chromatin interactions contribute to expression of the fibrinogen gene cluster | Journal of Thrombosis and Haemostasis | 2018 | 541 | 194 | |||
| Inactivation of AMMECR1 is associated with growth, bone, and heart alterations | Human Mutation | 2018 | 593 | 371 | |||
| Clinical Consequences and Molecular Bases of Low Fibrinogen Levels | International Journal of Molecular Sciences | 2018 | 596 | 291 | |||
| KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis | American Journal of Human Genetics | 2018 | 598 | 359 | |||
| Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis | Thrombosis Research | 2018 | 473 | 1 | |||
| Mutational epidemiology of congenital fibrinogen disorders | Thrombosis and Haemostasis | 2018 | 595 | 871 | |||
| Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation | Journal of thrombosis and haemostasis | 2017 | 620 | 250 | |||
| Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia | Haemophilia | 2017 | 562 | 4 | |||
| Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders | Seminars in thrombosis and hemostasis | 2016 | 584 | 0 | |||
| A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding, thrombotic and platelet disorders | Blood | 2016 | 577 | 8 | |||
| Clinical Features and Management of Congenital Fibrinogen Deficiencies | Seminars in thrombosis and hemostasis | 2016 | 605 | 5 | |||
| GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability | American journal of human genetics | 2016 | 693 | 508 | |||
| Thromboembolism in patients with congenital afibrinogenaemia. Long-term observational data and systematic review | Thrombosis and haemostasis | 2016 | 572 | 0 | |||
| Natural history of patients with congenital dysfibrinogenemia | Blood | 2015 | 738 | 4 | |||
| Successful pregnancy under fibrinogen substitution in a woman with congenital afibrinogenaemia complicated by a postpartum venous thrombosis | Haemophilia | 2015 | 521 | 0 | |||
| Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management | Journal of thrombosis and haemostasis | 2015 | 795 | 683 | |||
| Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes | Genomics | 2015 | 645 | 4 | |||
| Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature | Haemophilia | 2015 | 596 | 5 | |||
| Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes | Data in brief | 2015 | 693 | 329 | |||
| αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia | Proceedings of the National Academy of Sciences of the United States of America | 2015 | 605 | 3 | |||
| C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and human | PloS one | 2014 | 731 | 381 | |||
| Targeted mutation of zebrafish fga models human congenital afibrinogenemia | Blood | 2014 | 711 | 5 | |||
| Fibrinogen geneva II: a new congenitally abnormal fibrinogen alpha chain (Gly17Asp) with a review of similar mutations resulting in abnormal knob A | Blood coagulation & fibrinolysis | 2014 | 661 | 3 | |||
| Thromboelastographic phenotypes of fibrinogen and its variants: clinical and non-clinical implications | Thrombosis research | 2014 | 611 | 0 | |||
| In vitro rescue of FGA deletion by lentiviral transduction of afibrinogenemic patient's hepatocytes | Journal of thrombosis and haemostasis | 2014 | 628 | 0 | |||
| FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations | Thrombosis research | 2014 | 694 | 9 | |||
| Congenital fibrinogen disorders: an update | Seminars in thrombosis and hemostasis | 2013 | 749 | 0 | |||
| DNA Methylation Profiling of the Fibrinogen Gene Landscape in Human Cells and during Mouse and Zebrafish Development | PloS one | 2013 | 683 | 388 | |||
| Fibrinogen gene regulation | Thrombosis and haemostasis | 2012 | 789 | 3 | |||
| Fibrinogen Gdansk: hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro) | Thrombosis research | 2012 | 599 | 1 | |||
| Developmental expression and organisation of fibrinogen genes in the zebrafish | Thrombosis and haemostasis | 2012 | 744 | 7 | |||
| A novel regulatory element between the human FGA and FGG genes | Thrombosis and haemostasis | 2012 | 713 | 0 | |||
| Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency | Blood coagulation & fibrinolysis | 2012 | 589 | 0 | |||
| Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia | Blood coagulation & fibrinolysis | 2012 | 620 | 0 | |||
| Apprentissage par problèmes des sciences médicales de base : les années précliniques (Bachelor) | Les études de médecine à Genève: rétrospective et perspective | 2011 | 607 | 61 | |||
| Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family | European journal of haematology | 2011 | 652 | 0 | |||
| A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family | Blood coagulation & fibrinolysis | 2011 | 669 | 1 | |||
| Loss of Dicer in Sertoli cells has a major impact on the testicular proteome of mice | Molecular & cellular proteomics | 2011 | 727 | 0 | |||
| A liver enhancer in the fibrinogen gene cluster | Blood | 2011 | 671 | 3 | |||
| Two different fibrinogen gene mutations associated with bleeding in the same family (A αGly13Glu and γGly16Ser) and their impact on fibrin clot properties: fibrinogen Krakow II and Krakow III | Thrombosis and haemostasis | 2011 | 634 | 0 | |||
| Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients | Blood coagulation & fibrinolysis | 2010 | 634 | 0 | |||
| Characterisation of a novel nonsense mutation in FGG (Fibrinogen Poznan) causing hypofibrinogenaemia with a mild bleeding tendency | Thrombosis and haemostasis | 2010 | 615 | 0 | |||
| Regulation of fibrinogen production by microRNAs | Blood | 2010 | 632 | 0 | |||
| Decreased plasmin resistance by clots of a homophenotypic Aalpha R 16H fibrinogen (Kingsport, slower fibrinopeptide A than fibrinopeptide B release) | Blood coagulation & fibrinolysis | 2010 | 896 | 0 | |||
| Fibrinogen and the risk of thrombosis | Seminars in thrombosis and hemostasis | 2010 | 592 | 2 | |||
| Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A' | Thrombosis and haemostasis | 2010 | 686 | 346 | |||
| Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete) | Thrombosis research | 2010 | 565 | 0 | |||
| Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects | Blood coagulation & fibrinolysis | 2010 | 687 | 0 | |||
| Functional characterisation of plasma fibrin clots in Polish carriers of fibrinogen gammaArg275His mutation (fibrinogen Zabrze) | Thrombosis and haemostasis | 2010 | 526 | 0 | |||
| Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia | European journal of haematology | 2009 | 674 | 0 | |||
| Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function | Thrombosis and haemostasis | 2009 | 670 | 1 | |||
| Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation | Blood coagulation & fibrinolysis | 2009 | 564 | 0 | |||
| 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 | 634 | 4 | |||
| Congenital fibrinogen disorders | Seminars in thrombosis and hemostasis | 2009 | 632 | 0 | |||
| Treatment of congenital fibrinogen disorders | Expert opinion on biological therapy | 2008 | 551 | 0 | |||
| Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency | Blood | 2008 | 666 | 0 | |||
| Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants | Haematologica | 2008 | 601 | 419 | |||
| A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis | Blood coagulation & fibrinolysis | 2008 | 569 | 0 | |||
| Homophenotypic Aalpha R16H fibrinogen (Kingsport): uniquely altered polymerization associated with slower fibrinopeptide A than fibrinopeptide B release | Blood coagulation & fibrinolysis | 2007 | 551 | 0 | |||
| Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins | Journal of thrombosis and haemostasis | 2007 | 623 | 1 | |||
| To aggregate or not to aggregate | Journal of thrombosis and haemostasis | 2007 | 553 | 0 | |||
| Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations | Human mutation | 2007 | 613 | 1 | |||
| Molecular basis of fibrinogen deficiency | Pathophysiology of haemostasis and thrombosis | 2006 | 525 | 0 | |||
| Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis | The American journal of surgical pathology | 2006 | 578 | 1 | |||
| Afibrinogénémie congénitale et contrôle de qualité de la sécrétion du fibrinogène | MS. Médecine sciences | 2006 | 600 | 3 | |||
| Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient | Thrombosis and haemostasis | 2006 | 665 | 0 | |||
| Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency | Haematologica | 2005 | 490 | 0 | |||
| Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion | Journal of medical genetics | 2005 | 506 | 1 | |||
| Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia | Human molecular genetics | 2005 | 669 | 4 | |||
| Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain | Blood coagulation & fibrinolysis | 2004 | 537 | 0 | |||
| Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells | Blood | 2004 | 658 | 0 | |||
| Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family | Blood | 2003 | 959 | 0 | |||
| Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA) | Blood | 2003 | 639 | 0 | |||
| Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 | Gene | 2003 | 654 | 0 | |||
| Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion | Blood | 2003 | 589 | 0 | |||
| The molecular basis of inherited afibrinogenaemia | Thrombosis and haemostasis | 2001 | 455 | 0 | |||
| 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 | 620 | 0 | |||
| Fibrinogen gene mutations accounting for congenital afibrinogenemia | Annals of the New York Academy of Sciences | 2001 | 573 | 0 | |||
| Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T | Blood | 2001 | 599 | 0 | |||
| Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia | Blood | 2000 | 591 | 1 | |||
| Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia | The Journal of clinical investigation | 1999 | 528 | 0 | |||
| The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster | European journal of human genetics | 1999 | 563 | 0 | |||
| Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency | Blood | 1999 | 579 | 0 | |||
| The GM2-1 ganglioside islet autoantigen in insulin-dependent diabetes mellitus is expressed in secretory granules and is not beta-cell specific | Endocrinology | 1998 | 558 | 0 | |||
| The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 | American journal of human genetics | 1997 | 598 | 0 | |||
| Des-(27-31)C-peptide. A novel secretory product of the rat pancreatic beta cell produced by truncation of proinsulin connecting peptide in secretory granules | The Journal of biological chemistry | 1996 | 618 | 0 | |||
| Human proinsulin conversion in the regulated and the constitutive pathways of transfected AtT20 cells | The Journal of biological chemistry | 1994 | 561 | 0 | |||
| Levels of the conversion endoproteases PC1 (PC3) and PC2 distinguish between insulin-producing pancreatic islet beta cells and non-beta cells | Biochemical journal | 1994 | 578 | 0 | |||
| Slow cleavage at the proinsulin B-chain/connecting peptide junction associated with low levels of endoprotease PC1/3 in transformed beta cells | The Journal of biological chemistry | 1993 | 560 | 0 | |||
| Novel, non-crinophagic, degradation of connecting peptide in transformed pancreatic beta cells | The Journal of biological chemistry | 1993 | 502 | 0 | |||
| High incidence of ectopic nucleolar organizer regions in human testicular tumors | Cancer genetics and cytogenetics | 1993 | 616 | 0 |
