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

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; Vilarino, Raquel; 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: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: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: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; Simeoni, Ilenia; ... Coller, Barry S

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
unige:39383	Targeted mutation of zebrafish fga models human congenital afibrinogenemia	Fish, Richard; Di Sanza, Corinne; Neerman Arbez, Marguerite;
unige:39921	Thromboelastographic phenotypes of fibrinogen and its variants: clinical and non-clinical implications	Galanakis, Dennis K; Neerman Arbez, Marguerite; Brennan, Stephen; Rafailovich, Miriam; ... Scharrer, Inge

2013

Scientific Articles

unige:30893	Congenital fibrinogen disorders: an update	De Moerloose, Philippe; Casini, Alessandro; Neerman Arbez, Marguerite;
unige:30808	DNA Methylation Profiling of the Fibrinogen Gene Landscape in Human Cells and during Mouse and Zebrafish Development	Vorjohann, Silja; Pitetti, Jean-Luc; Nef, Serge; Gonelle-Gispert, Carmen; ... Neerman Arbez, Marguerite

Thesis supervisions

unige:29437

The fibrinogen gene locus: pathogenic mutations and epigenetic regulation

Vorjohann, Silja;

2012

Scientific Articles

unige:31577	A novel regulatory element between the human FGA and FGG genes	Fish, Richard; Neerman Arbez, Marguerite;
unige:32316	Developmental expression and organisation of fibrinogen genes in the zebrafish	Fish, Richard; Vorjohann, Silja; Bena, Frédérique; Fort, Alexandre; Neerman Arbez, Marguerite
unige:32308	Fibrinogen Gdansk: hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro)	Mital, Andrzej; Undas, Anetta; Neerman Arbez, Marguerite; Hellmann, Andrzej;
unige:30895	Fibrinogen gene regulation	Fish, Richard; Neerman Arbez, Marguerite;
unige:32314	Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency	Tirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite; De Moerloose, Philippe;
unige:32312	Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia	Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite;

2011

Scientific Articles

unige:30896	A liver enhancer in the fibrinogen gene cluster	Fort, Alexandre; Fish, Richard; Attanasio, Catia; Dosch, Roland; ... Neerman Arbez, Marguerite
unige:32728	A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family	Levrat, Emmanuel; Aboukhamis, Imad; De Moerloose, Philippe; Farho, Jaafar; ... Neerman Arbez, Marguerite
unige:32726	Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family	Tchou, Isabelle; Neerman Arbez, Marguerite; Beris, Photis;
unige:30570	Loss of Dicer in Sertoli cells has a major impact on the testicular proteome of mice	Papaioannou, Marilena D; Lagarrigue, Mélanie; Vejnar, Charles; Rolland, Antoine D; ... Nef, Serge
unige:32729	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.	Pietrys, Danuta; Balwierz, Walentyna; Iwaniec, Teresa; Vorjohann, Silja; ... Undas, Anetta

Book Chapters

unige:26894

Apprentissage par problèmes des sciences médicales de base : les années précliniques (Bachelor)

Baroffio Barbier, Anne; Neerman Arbez, Marguerite; Gallay, Christophe; Bernheim, Laurent;

2010

Scientific Articles

unige:9109	Characterisation of a novel nonsense mutation in FGG (Fibrinogen Poznan) causing hypofibrinogenaemia with a mild bleeding tendency	Zawilska, Krystyna; Undas, Anetta; Fish, R. J.; Molendowicz-Portala, Lucyna; ... Neerman Arbez, Marguerite
unige:21351	Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete)	Travlou, A.; Gialeraki, A.; Merkouri, E.; Politou, M.; ... Neerman Arbez, Marguerite
unige:8749	Decreased plasmin resistance by clots of a homophenotypic Aalpha R 16H fibrinogen (Kingsport, slower fibrinopeptide A than fibrinopeptide B release)	Galanakis, D. K.; Neerman Arbez, Marguerite; Kudryk, Bohdan; Henschen, Agnes;
unige:8704	Fibrinogen and the risk of thrombosis	De Moerloose, Philippe; Boehlen, Françoise; Neerman Arbez, Marguerite;
unige:20579	Functional characterisation of plasma fibrin clots in Polish carriers of fibrinogen gammaArg275His mutation (fibrinogen Zabrze)	Undas, Anetta; Pastuszczak, Maciej; Iwaniec, Teresa; Kapelak, Krystyna; Neerman Arbez, Marguerite
unige:20665	Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'	Vorjohann, Silja; Fish, Richard; Biron-Andreani, Christine; Nagaswami, Chandrasekaran; ... Neerman Arbez, Marguerite
unige:8595	Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients	Abdel Wahab, Magy; De Moerloose, Philippe; Fish, R. J.; Neerman Arbez, Marguerite;
unige:8901	Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects	Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis
unige:20943	Regulation of fibrinogen production by microRNAs	Fort, Alexandre; Borel, Christelle; Migliavacca, Eugenia; Antonarakis, Stylianos; ... Neerman Arbez, Marguerite

Thesis supervisions

unige:12027

Novel mechanisms of transcriptional and posttranscriptional regulation of fibrinogen genes

Fort, Alexandre;

2009

Scientific Articles

unige:8999

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

Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite