2021

Scientific Articles

unige:154133	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	Guipponi, Michel; Masclaux, Frédéric; Sloan Bena, Frédérique; Di Sanza, Corinne; ... Neerman Arbez, Marguerite
unige:154138	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	Zdziarska, Joanna; Wypasek, Ewa; Iwaniec, Teresa; Ferreira Vilar Da Silva, Rui Filipe; ... Undas, Anetta
unige:155465	Afibrinogenemia with two compound heterozygous mutations in FGA gene	Feugray, Guillaume; Billoir, Paul; Casini, Alessandro; Neerman Arbez, Marguerite; ... Le Cam Duchez, Véronique
unige:154136	Chemical modulators of fibrinogen production and their impact on venous thrombosis	Ferreira Vilar Da Silva, Rui Filipe; Lukowski, Samuel; Garieri, Marco; Di Sanza, Corinne; ... Fish, Richard
unige:151331	Comparison of different activators of coagulation by turbidity analysis of hereditary dysfibrinogenemia and controls	Marchi Cappelletti, Rita; Neerman Arbez, Marguerite; Gay, Valérie; Mourey, Guillaume; ... Casini, Alessandro
unige:145696	Fibrin clot properties to assess the bleeding phenotype in unrelated patients with hypodysfibrinogenemia due to novel fibrinogen mutations	Marchi Cappelletti, Rita; Ferreira Vilar Da Silva, Rui Filipe; Durual, Stéphane; Goodyer, Matthew; ... Casini, Alessandro
unige:154132	Illustrated state-of-the-art capsules of the ISTH 2020 congress	Krishnaswamy, Sriram; Ageno, Walter; Arabi, Yaseen; Barbui, Tiziano; ... Undas, Anetta
unige:154131	Novel missense mutations affecting the structure of the conserved fibrinogen Bβ C-terminal domain cause congenital hypofibrinogenemia	Bartolo, Raquel; Arbez, Maxime; Ferreira Vilar Da Silva, Rui Filipe; Szanto, Timea; ... Neerman Arbez, Marguerite
unige:151329	Whole blood thromboelastometry by ROTEM and thrombin generation by genesia according to the genotype and clinical phenotype in congenital fibrinogen disorders	Szanto, Timea; Lassila, Riitta; Lemponen, Marja; Lehtinen, Elina; ... Casini, Alessandro

2020

Scientific Articles

unige:154137	A genetic modifier of venous thrombosis in zebrafish reveals a functional role for fibrinogen AαE in early hemostasis	Freire, Cristina; Fish, Richard; Ferreira Vilar Da Silva, Rui Filipe; Di Sanza, Corinne; ... Neerman Arbez, Marguerite
unige:139876	A novel frameshift mutation in the FGA gene (c.196 delT) leading to congenital afibrinogenemia	Aydin Köker, Sultan; Köker, Alper; Neerman Arbez, Marguerite; Ö Tunçer, Gökçen; ... Coban, Yasemin
unige:146958	A novel nonsense mutation in FBG (c.1421G>A;p.Trp474Ter) in the beta chain of fibrinogen causing hypofibrinogenemia with bleeding phenotype	Simurda, Tomas; Ferreira Vilar Da Silva, Rui Filipe; Zolkova, Jana; Ceznerova, Eliska; ... Kubisz, Peter
unige:154135	Case report: unmasked inherited dysfibrinogenemia after everolimus therapy	Merkulova, Alona A; Mitchell, Steven C; Merkulov, Sergei; Wolberg, Alisa S; ... Schmaier, Alvin H
unige:131188	Fibrin(ogen) in human disease: both friend and foe	Ferreira Vilar Da Silva, Rui Filipe; Fish, Richard; Casini, Alessandro; Neerman Arbez, Marguerite;
unige:139417	Hepatocellular type II fibrinogen inclusions in a patient with severe COVID-19 and hepatitis	Fraga, Montserrat; Moradpour, Darius; Artru, Florent; Romailler, Elodie; ... Sempoux, Christine
unige:151332	Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and management	Casini, Alessandro; Neerman Arbez, Marguerite; De Moerloose, Philippe;
unige:139625	Identification and expression of a novel heterozygous frameshift mutation in FGA accounting for congenital hypofibrinogenemia in carriers of severe hemophilia A.	Ferreira Vilar Da Silva, Rui Filipe; Casini, Alessandro; Fournel, Alexandra; Mourey, Guillaume; Neerman Arbez, Marguerite
unige:150555	Methods to investigate miRNA function: focus on platelet reactivity	Garcia, Alix; Geindre, Sylvie Françoise; Fish, Richard; Neerman Arbez, Marguerite; ... Fontana, Pierre
unige:143435	MicroRNA-126 is a regulator of platelet-supported thrombin generation	Zapilko, Veronika; Fish, Richard; Garcia, Alix; Reny, Jean-Luc; ... Fontana, Pierre
unige:131189	Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype	Simurda, Tomas; Casini, Alessandro; Stasko, Jan; Hudecek, Jan; ... Kubisz, Peter

Thesis supervisions

unige:140844	Hemostasis and thrombosis in zebrafish models of human congenital fibrinogen disorders	Freire Sanz, Cristina;
unige:140144	Investigating and modulating the regulation of fibrinogen production	Ferreira Vilar Da Silva, Rui Filipe;

2019

Scientific Articles

unige:131184	Fibrinogen Łódź: a new cause of dysfibrinogenemia associated with recurrent thromboembolic arterial events	Treliński, Jacek; Witkowski, Michał; Chojnowski, Krzysztof; Neerman Arbez, Marguerite; ... Undas, Anetta
unige:137970	Genetic and clinical characterization of congenital fibrinogen disorders in polish patients: identification of three novel fibrinogen gamma chain mutations	Wypasek, Ewa; Klukowska, Anna; Zdziarska, Joanna; Zawilska, Krystyna; ... Undas, Anetta
unige:122151	Obstetrical and postpartum complications in women with hereditary fibrinogen disorders: a systematic literature review	Valiton, Vivian; Hugon-Rodin, Justine; Fontana, Pierre; Neerman Arbez, Marguerite; Casini, Alessandro

2018

Scientific Articles

unige:101803	Clinical Consequences and Molecular Bases of Low Fibrinogen Levels	Neerman Arbez, Marguerite; Casini, Alessandro;
unige:103594	Inactivation of AMMECR1 is associated with growth, bone, and heart alterations	Moysés-Oliveira, Mariana; Giannuzzi, Giuliana; Fish, Richard; Rosenfeld, Jill A; ... Reymond, Alexandre
unige:102014	KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis	Gueneau, Lucie; Fish, Richard; Shamseldin, Hanan E.; Voisin, Norine; ... Reymond, Alexandre
unige:115122	Local chromatin interactions contribute to expression of the fibrinogen gene cluster	Espitia Jaimes, Cindy; Fish, Richard; Neerman Arbez, Marguerite;
unige:115121	Mutational epidemiology of congenital fibrinogen disorders	Casini, Alessandro; Blondon, Marc; Tintillier, Veronique; Goodyer, Matthew; ... Neerman Arbez, Marguerite

Thesis supervisions

unige:110926

Regulation of the human fibrinogen gene cluster through chromatin interactions

Espitia Jaimes, Cindy;

2017

Scientific Articles

unige:94324	Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation	Casini, Alessandro; Brungs, T; Lavenu-Bombled, C; Vilar, R; ... De Moerloose, Philippe
unige:100661	Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis	Tajdar, Mercedeh; Orlando, Christelle; Casini, Alessandro; Herpol, Margaux; ... Jochmans, Kristin
unige:99478	Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia	Casini, Alessandro; Vilar, Rui; Beauverd, Yan; Aslan, D; ... Neerman Arbez, Marguerite

2016

Scientific Articles

unige:84426	A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding, thrombotic and platelet disorders	Simeoni, Ilenia; Neerman Arbez, Marguerite;
unige:84424	Clinical Features and Management of Congenital Fibrinogen Deficiencies	Casini, Alessandro; De Moerloose, Philippe; Neerman Arbez, Marguerite;
unige:86476	GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability	Lodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D; Fish, Richard; ... Merla, Giuseppe
unige:84427	Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders	Neerman Arbez, Marguerite; De Moerloose, Philippe; Casini, Alessandro;
unige:85864	Thromboembolism in patients with congenital afibrinogenaemia. Long-term observational data and systematic review	Nagler, Michael; Kremer Hovinga, Johanna A; Alberio, Lorenzo; Peter-Salonen, Kristiina; ... Lämmle, Bernhard

2015

Scientific Articles

unige:83344	Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management	Casini, Alessandro; Neerman Arbez, Marguerite; Ariëns, R A; De Moerloose, Philippe;
unige:83345	Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature	Casini, Alessandro; Sokollik, C; Lukowski, Samuel; Lurz, E; ... Neerman Arbez, Marguerite
unige:75016	Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes	Lukowski, Samuel; Fish, Richard; Martin-Levilain, Juliette; Gonelle-Gispert, Carmen; ... Neerman Arbez, Marguerite
unige:74638	Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes	Lukowski, Samuel; Fish, Richard; Martin-Levilain, Juliette; Gonelle-Gispert, Carmen; ... Neerman Arbez, Marguerite
unige:45599	Natural history of patients with congenital dysfibrinogenemia	Casini, Alessandro; Blondon, Marc; Lebreton, Aurelien; Koegel, Jeremie; ... De Moerloose, Philippe
unige:85687	Successful pregnancy under fibrinogen substitution in a woman with congenital afibrinogenaemia complicated by a postpartum venous thrombosis	Lebreton, A; Casini, Alessandro; Alhayek, R; Kouteich, K L; ... De Moerloose, Philippe
unige:83343	αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia	Buitrago, Lorena; Rendon, Augusto; Liang, Yupu; Neerman Arbez, Marguerite;

2014

Scientific Articles

unige:36224	C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and human	Bontems, Franck; Fish, Richard; Rossitto-Borlat, Irène; Lembo, Frédérique; ... Lane, Lydie
unige:39382	FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations	Casini, Alessandro; Lukowski, Samuel; Quintard, V Louvain; Crutu, A; ... Neerman Arbez, Marguerite
unige:39922	Fibrinogen geneva II: a new congenitally abnormal fibrinogen alpha chain (Gly17Asp) with a review of similar mutations resulting in abnormal knob A.	Casini, Alessandro; De Maistre, Emmanuel; Casini-Stuppi, Virginie; Fontana, Pierre; ... De Moerloose, Philippe
unige:40405	In vitro rescue of FGA deletion by lentiviral transduction of afibrinogenemic patient's hepatocytes	Stroka, Deborah; Keogh, Adrian; Vu, Dung; Fort, Alexandre; ... Neerman Arbez, Marguerite