MN
Neerman Arbez, Marguerite
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| A novel FGG missense variant associated with fibrinogen storage disease in a large family from Quebec | Haemophilia |  | 2024 | 48 | 0 | ||
| Perinatal stroke and hypofibrinogenemia : Is the new missense fibrinogen variant γ p.Gly310Glu the cause of the procoagulant state ? | Thrombosis research | | 2024 | 37 | 0 | ||
| Composition of thrombi in zebrafish : similarities and distinctions with mammals | Journal of thrombosis and haemostasis | | 2024 | 133 | 0 | ||
| Diagnostic value of clot formation parameters determined by rotational thromboelastometry in 63 patients with congenital dysfibrinogenemia | Blood coagulation & fibrinolysis |  | 2024 | 66 | 32 | ||
| Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database | Blood advances | | 2024 | 69 | 21 | ||
| Clinical, laboratory, and molecular aspects of congenital fibrinogen disorders | Seminars in thrombosis and hemostasis | | 2024 | 32 | 0 | ||
| Highly thrombogenic phenotype and impaired wound healing in a patient with congenital dysfibrinogenemia : case report | Research and practice in thrombosis and haemostasis | | 2024 | 72 | 21 | ||
| Regulation of fibrinogen synthesis | Thrombosis research | | 2024 | 26 | 0 | ||
| Physiological correction of hereditary mild hypofibrinogenemia during pregnancy | Haemophilia | | 2023 | 166 | 312 | ||
| Coexpression of factor VIII and factor von Willebrand variants in a woman with heavy menstrual bleeding | Blood coagulation & fibrinolysis | | 2023 | 57 | 0 | ||
| Fifty years of fibrinogen structure and function | Seminars in thrombosis and hemostasis | | 2023 | 97 | 4 | ||
| Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster | Haemophilia | | 2022 | 156 | 2 | ||
| One Hundred Years of Congenital Fibrinogen Disorders | Seminars in thrombosis and hemostasis | | 2022 | 275 | 0 | ||
| Impact of fibrinogen infusion on thrombin generation and fibrin clot structure in patients with inherited afibrinogenemia | Thrombosis and haemostasis | | 2022 | 129 | 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 | 292 | 129 | ||
| Illustrated state-of-the-art capsules of the ISTH 2020 congress | Research and Practice in Thrombosis and Haemostasis | | 2021 | 147 | 124 | ||
| Novel missense mutations affecting the structure of the conserved fibrinogen Bβ C-terminal domain cause congenital hypofibrinogenemia | Thrombosis Research | | 2021 | 181 | 73 | ||
| Afibrinogenemia with two compound heterozygous mutations in FGA gene | Haemophilia | | 2021 | 227 | 0 | ||
| Fibrin clot properties to assess the bleeding phenotype in unrelated patients with hypodysfibrinogenemia due to novel fibrinogen mutations | Thrombosis Research | | 2021 | 542 | 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 | 185 | 60 | ||
| Chemical modulators of fibrinogen production and their impact on venous thrombosis | Thrombosis and Haemostasis | | 2021 | 219 | 165 | ||
| Comparison of different activators of coagulation by turbidity analysis of hereditary dysfibrinogenemia and controls | Blood Coagulation and Fibrinolysis | | 2021 | 202 | 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 | 186 | 240 | ||
| Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype | Thrombosis Research | | 2020 | 322 | 39 | ||
| Identification and expression of a novel heterozygous frameshift mutation in FGA accounting for congenital hypofibrinogenemia in carriers of severe hemophilia A | Thrombosis Research | | 2020 | 244 | 2 | ||
| Case report: unmasked inherited dysfibrinogenemia after everolimus therapy | Frontiers in Medicine | | 2020 | 154 | 74 | ||
| Fibrin(ogen) in human disease: both friend and foe | Haematologica | | 2020 | 402 | 248 | ||
| MicroRNA-126 is a regulator of platelet-supported thrombin generation | Platelets | | 2020 | 263 | 222 | ||
| A novel frameshift mutation in the FGA gene (c.196 delT) leading to congenital afibrinogenemia | Journal of Pediatric Hematology / Oncology | | 2020 | 307 | 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 | 239 | 123 | ||
| Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and management | Blood Reviews | | 2020 | 234 | 224 | ||
| Hepatocellular type II fibrinogen inclusions in a patient with severe COVID-19 and hepatitis | Journal of Hepatology | | 2020 | 365 | 80 | ||
| A genetic modifier of venous thrombosis in zebrafish reveals a functional role for fibrinogen AαE in early hemostasis | Blood Advances | | 2020 | 177 | 92 | ||
| Methods to investigate miRNA function: focus on platelet reactivity | Thrombosis and Haemostasis | | 2020 | 200 | 42 | ||
| Obstetrical and postpartum complications in women with hereditary fibrinogen disorders: a systematic literature review | Haemophilia | | 2019 | 388 | 1 | ||
| Genetic and clinical characterization of congenital fibrinogen disorders in polish patients: identification of three novel fibrinogen gamma chain mutations | Thrombosis Research | | 2019 | 239 | 455 | ||
| Fibrinogen Łódź: a new cause of dysfibrinogenemia associated with recurrent thromboembolic arterial events | Polish Archives of Internal Medicine | | 2019 | 251 | 113 | ||
| Local chromatin interactions contribute to expression of the fibrinogen gene cluster | Journal of Thrombosis and Haemostasis | | 2018 | 505 | 157 | ||
| Inactivation of AMMECR1 is associated with growth, bone, and heart alterations | Human Mutation | | 2018 | 550 | 253 | ||
| Clinical Consequences and Molecular Bases of Low Fibrinogen Levels | International Journal of Molecular Sciences | | 2018 | 544 | 196 | ||
| KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis | American Journal of Human Genetics | | 2018 | 525 | 289 | ||
| Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis | Thrombosis Research | | 2018 | 436 | 1 | ||
| Mutational epidemiology of congenital fibrinogen disorders | Thrombosis and Haemostasis | | 2018 | 541 | 555 | ||
| Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation | Journal of thrombosis and haemostasis | | 2017 | 532 | 161 | ||
| Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia | Haemophilia | | 2017 | 506 | 4 | ||
| Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders | Seminars in thrombosis and hemostasis | | 2016 | 552 | 0 | ||
| A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding, thrombotic and platelet disorders | Blood | | 2016 | 525 | 8 | ||
| Clinical Features and Management of Congenital Fibrinogen Deficiencies | Seminars in thrombosis and hemostasis | | 2016 | 553 | 5 | ||
| GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability | American journal of human genetics | | 2016 | 640 | 371 | ||
| Thromboembolism in patients with congenital afibrinogenaemia. Long-term observational data and systematic review | Thrombosis and haemostasis | | 2016 | 522 | 0 | ||
| Natural history of patients with congenital dysfibrinogenemia | Blood | | 2015 | 681 | 4 | ||
| Successful pregnancy under fibrinogen substitution in a woman with congenital afibrinogenaemia complicated by a postpartum venous thrombosis | Haemophilia | | 2015 | 481 | 0 | ||
| Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management | Journal of thrombosis and haemostasis | | 2015 | 566 | 285 | ||
| Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes | Genomics | | 2015 | 595 | 4 | ||
| Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature | Haemophilia | | 2015 | 538 | 5 | ||
| Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes | Data in brief | | 2015 | 653 | 265 | ||
| 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 | 562 | 3 | ||
| C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and human | PloS one | | 2014 | 638 | 351 | ||
| Targeted mutation of zebrafish fga models human congenital afibrinogenemia | Blood | | 2014 | 655 | 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 | 610 | 3 | ||
| Thromboelastographic phenotypes of fibrinogen and its variants: clinical and non-clinical implications | Thrombosis research |  | 2014 | 555 | 0 | ||
| In vitro rescue of FGA deletion by lentiviral transduction of afibrinogenemic patient's hepatocytes | Journal of thrombosis and haemostasis | | 2014 | 592 | 0 | ||
| FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations | Thrombosis research | | 2014 | 632 | 9 | ||
| Congenital fibrinogen disorders: an update | Seminars in thrombosis and hemostasis | | 2013 | 706 | 0 | ||
| DNA Methylation Profiling of the Fibrinogen Gene Landscape in Human Cells and during Mouse and Zebrafish Development | PloS one | | 2013 | 645 | 314 | ||
| Fibrinogen gene regulation | Thrombosis and haemostasis | | 2012 | 728 | 3 | ||
| Fibrinogen Gdansk: hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro) | Thrombosis research | | 2012 | 560 | 1 | ||
| Developmental expression and organisation of fibrinogen genes in the zebrafish | Thrombosis and haemostasis | | 2012 | 702 | 7 | ||
| A novel regulatory element between the human FGA and FGG genes | Thrombosis and haemostasis | | 2012 | 649 | 0 | ||
| Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency | Blood coagulation & fibrinolysis | | 2012 | 546 | 0 | ||
| Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia | Blood coagulation & fibrinolysis | | 2012 | 574 | 0 | ||
| Apprentissage par problèmes des sciences médicales de base : les années précliniques (Bachelor) | Les études de médecine à Genève: rétrospective et perspective | | 2011 | 570 | 43 | ||
| 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 | 607 | 0 | ||
| A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family | Blood coagulation & fibrinolysis | | 2011 | 634 | 1 | ||
| Loss of Dicer in Sertoli cells has a major impact on the testicular proteome of mice | Molecular & cellular proteomics | | 2011 | 684 | 0 | ||
| A liver enhancer in the fibrinogen gene cluster | Blood | | 2011 | 621 | 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 | 585 | 0 | ||
| Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients | Blood coagulation & fibrinolysis | | 2010 | 594 | 0 | ||
| Characterisation of a novel nonsense mutation in FGG (Fibrinogen Poznan) causing hypofibrinogenaemia with a mild bleeding tendency | Thrombosis and haemostasis | | 2010 | 579 | 0 | ||
| Regulation of fibrinogen production by microRNAs | Blood | | 2010 | 591 | 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 | 860 | 0 | ||
| Fibrinogen and the risk of thrombosis | Seminars in thrombosis and hemostasis | | 2010 | 562 | 2 | ||
| Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A' | Thrombosis and haemostasis | | 2010 | 590 | 269 | ||
| Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete) | Thrombosis research | | 2010 | 540 | 0 | ||
| Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects | Blood coagulation & fibrinolysis | | 2010 | 645 | 0 | ||
| Functional characterisation of plasma fibrin clots in Polish carriers of fibrinogen gammaArg275His mutation (fibrinogen Zabrze) | Thrombosis and haemostasis | 2010 | 495 | 0 | |||
| Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia | European journal of haematology | | 2009 | 622 | 0 | ||
| Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function | Thrombosis and haemostasis | | 2009 | 606 | 1 | ||
| Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation | Blood coagulation & fibrinolysis | | 2009 | 521 | 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 | 589 | 4 | ||
| Congenital fibrinogen disorders | Seminars in thrombosis and hemostasis | 2009 | 585 | 0 | |||
| Treatment of congenital fibrinogen disorders | Expert opinion on biological therapy | 2008 | 520 | 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 | 607 | 0 | ||
| Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants | Haematologica | | 2008 | 560 | 359 | ||
| A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis | Blood coagulation & fibrinolysis | | 2008 | 538 | 0 | ||
| Homophenotypic Aalpha R16H fibrinogen (Kingsport): uniquely altered polymerization associated with slower fibrinopeptide A than fibrinopeptide B release | Blood coagulation & fibrinolysis | | 2007 | 509 | 0 | ||
| Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins | Journal of thrombosis and haemostasis | | 2007 | 585 | 1 | ||
| To aggregate or not to aggregate | Journal of thrombosis and haemostasis | | 2007 | 530 | 0 | ||
| Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations | Human mutation | | 2007 | 578 | 1 | ||
| Molecular basis of fibrinogen deficiency | Pathophysiology of haemostasis and thrombosis | | 2006 | 478 | 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 | 519 | 1 | ||
| Afibrinogénémie congénitale et contrôle de qualité de la sécrétion du fibrinogène | MS. Médecine sciences | | 2006 | 568 | 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 | 609 | 0 | ||
| Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency | Haematologica | | 2005 | 451 | 0 | ||
| Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion | Journal of medical genetics | | 2005 | 463 | 1 | ||
| Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia | Human molecular genetics | | 2005 | 623 | 4 | ||
| Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain | Blood coagulation & fibrinolysis | | 2004 | 501 | 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 | 610 | 0 | ||
| Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family | Blood | | 2003 | 916 | 0 | ||
| Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA) | Blood | | 2003 | 600 | 0 | ||
| Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 | Gene | | 2003 | 595 | 0 | ||
| Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion | Blood | | 2003 | 537 | 0 | ||
| The molecular basis of inherited afibrinogenaemia | Thrombosis and haemostasis | | 2001 | 384 | 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 | 568 | 0 | ||
| Fibrinogen gene mutations accounting for congenital afibrinogenemia | Annals of the New York Academy of Sciences | | 2001 | 534 | 0 | ||
| Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T | Blood | | 2001 | 549 | 0 | ||
| Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia | Blood | | 2000 | 541 | 1 | ||
| Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia | The Journal of clinical investigation | | 1999 | 490 | 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 | 505 | 0 | ||
| Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency | Blood | | 1999 | 532 | 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 | 514 | 0 | ||
| The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 | American journal of human genetics | | 1997 | 563 | 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 | 575 | 0 | ||
| Human proinsulin conversion in the regulated and the constitutive pathways of transfected AtT20 cells | The Journal of biological chemistry | | 1994 | 529 | 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 | 530 | 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 | 525 | 0 | ||
| Novel, non-crinophagic, degradation of connecting peptide in transformed pancreatic beta cells | The Journal of biological chemistry | | 1993 | 462 | 0 | ||
| High incidence of ectopic nucleolar organizer regions in human testicular tumors | Cancer genetics and cytogenetics | 1993 | 577 | 0 |
