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Items: 1 to 50 of 97

1.

Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype.

Simurda T, Casini A, Stasko J, Hudecek J, Skornova I, Vilar R, Neerman-Arbez M, Kubisz P.

Thromb Res. 2020 Apr;188:1-4. doi: 10.1016/j.thromres.2020.01.024. Epub 2020 Jan 25. No abstract available.

PMID:
32018167
2.

Fibrin(ogen) in human disease: both friend and foe.

Vilar R, Fish RJ, Casini A, Neerman-Arbez M.

Haematologica. 2020 Jan 31;105(2):284-296. doi: 10.3324/haematol.2019.236901. Print 2020. Review.

3.

A Novel Frameshift Mutation in the FGA Gene (c.196 delT) Leading to Congenital Afibrinogenemia.

Aydin Köker S, Köker A, Neerman-Arbez M, Ö Tunçer G, Akbas Y, Kara TT, Coban Y.

J Pediatr Hematol Oncol. 2020 Mar;42(2):e98-e99. doi: 10.1097/MPH.0000000000001658.

PMID:
31725541
4.

Fibrinogen Łódź: a new cause of dysfibrinogenemia associated with recurrent thromboembolic arterial events.

Treliński J, Witkowski M, Chojnowski K, Neerman-Arbez M, Wypasek E, Undas A.

Pol Arch Intern Med. 2019 Dec 23;129(12):934-935. doi: 10.20452/pamw.15014. Epub 2019 Oct 9. No abstract available.

5.

Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations.

Wypasek E, Klukowska A, Zdziarska J, Zawilska K, Treliński J, Iwaniec T, Mital A, Pietrys D, Sydor W, Neerman-Arbez M, Undas A.

Thromb Res. 2019 Oct;182:133-140. doi: 10.1016/j.thromres.2019.08.012. Epub 2019 Aug 24.

PMID:
31479941
6.

Obstetrical and postpartum complications in women with hereditary fibrinogen disorders: A systematic literature review.

Valiton V, Hugon-Rodin J, Fontana P, Neerman-Arbez M, Casini A.

Haemophilia. 2019 Sep;25(5):747-754. doi: 10.1111/hae.13825. Epub 2019 Jul 31.

PMID:
31368232
7.

Mutational Epidemiology of Congenital Fibrinogen Disorders.

Casini A, Blondon M, Tintillier V, Goodyer M, Sezgin ME, Gunes AM, Hanss M, de Moerloose P, Neerman-Arbez M.

Thromb Haemost. 2018 Nov;118(11):1867-1874. doi: 10.1055/s-0038-1673685. Epub 2018 Oct 17.

PMID:
30332696
8.

Local chromatin interactions contribute to expression of the fibrinogen gene cluster.

Espitia Jaimes C, Fish RJ, Neerman-Arbez M.

J Thromb Haemost. 2018 Oct;16(10):2070-2082. doi: 10.1111/jth.14248. Epub 2018 Aug 23.

PMID:
30039577
9.

Clinical Consequences and Molecular Bases of Low Fibrinogen Levels.

Neerman-Arbez M, Casini A.

Int J Mol Sci. 2018 Jan 8;19(1). pii: E192. doi: 10.3390/ijms19010192. Review.

10.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A.

Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28.

11.

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A.

Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14.

PMID:
29193635
12.

Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis.

Tajdar M, Orlando C, Casini A, Herpol M, De Bisschop B, Govaert P, Neerman-Arbez M, Jochmans K.

Thromb Res. 2018 Mar;163:185-189. doi: 10.1016/j.thromres.2017.10.020. Epub 2017 Oct 28.

PMID:
29122299
13.

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.

Casini A, Vilar R, Beauverd Y, Aslan D, Devreese K, Mondelaers V, Alberio L, Gubert C, de Moerloose P, Neerman-Arbez M.

Haemophilia. 2017 Jul;23(4):583-589. doi: 10.1111/hae.13190. Epub 2017 Mar 17.

PMID:
28306188
14.

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

Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P.

J Thromb Haemost. 2017 May;15(5):876-888. doi: 10.1111/jth.13655. Epub 2017 Mar 6. Review.

15.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Coban Akdemir ZH, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G.

Am J Hum Genet. 2016 Sep 1;99(3):786. doi: 10.1016/j.ajhg.2016.08.011. Epub 2016 Sep 1. No abstract available.

16.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G.

Am J Hum Genet. 2016 Sep 1;99(3):704-710. doi: 10.1016/j.ajhg.2016.06.025. Epub 2016 Aug 11. Erratum in: Am J Hum Genet. 2016 Sep 1;99(3):786.

17.

Thromboembolism in patients with congenital afibrinogenaemia. Long-term observational data and systematic review.

Nagler M, Kremer Hovinga JA, Alberio L, Peter-Salonen K, von Tengg-Kobligk H, Lottaz D, Neerman-Arbez M, Lämmle B.

Thromb Haemost. 2016 Sep 27;116(4):722-32. doi: 10.1160/TH16-02-0082. Epub 2016 Jul 7. Review.

PMID:
27384135
18.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E.

Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15.

19.

Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders.

Neerman-Arbez M, de Moerloose P, Casini A.

Semin Thromb Hemost. 2016 Jun;42(4):356-65. doi: 10.1055/s-0036-1571340. Epub 2016 Mar 28. Review.

PMID:
27019463
20.

Clinical Features and Management of Congenital Fibrinogen Deficiencies.

Casini A, de Moerloose P, Neerman-Arbez M.

Semin Thromb Hemost. 2016 Jun;42(4):366-74. doi: 10.1055/s-0036-1571339. Epub 2016 Mar 28. Review.

PMID:
27019462
21.

Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes.

Lukowski SW, Fish RJ, Martin-Levilain J, Gonelle-Gispert C, Bühler LH, Maechler P, Dermitzakis ET, Neerman-Arbez M.

Data Brief. 2015 Jun 10;4:226-8. doi: 10.1016/j.dib.2015.05.023. eCollection 2015 Sep.

22.

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

Casini A, Sokollik C, Lukowski SW, Lurz E, Rieubland C, de Moerloose P, Neerman-Arbez M.

Haemophilia. 2015 Nov;21(6):820-7. doi: 10.1111/hae.12719. Epub 2015 May 20.

PMID:
25990487
23.

Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes.

Lukowski SW, Fish RJ, Martin-Levilain J, Gonelle-Gispert C, Bühler LH, Maechler P, Dermitzakis ET, Neerman-Arbez M.

Genomics. 2015 Aug;106(2):107-15. doi: 10.1016/j.ygeno.2015.05.001. Epub 2015 May 12.

24.

Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management.

Casini A, Neerman-Arbez M, Ariëns RA, de Moerloose P.

J Thromb Haemost. 2015 Jun;13(6):909-19. doi: 10.1111/jth.12916. Epub 2015 May 2. Review.

25.

Dysfibrinogenaemia associated with a novel heterozygous mutation in FGB (c.680delG) and a mild clinical history of bleeding.

Priovolos A, Neerman-Arbez M, Morris M, Angelillo-Scherrer A, Nötzli J.

Blood Coagul Fibrinolysis. 2015 Mar;26(2):231-2. doi: 10.1097/MBC.0000000000000196. No abstract available.

26.

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

Lebreton A, Casini A, Alhayek R, Kouteich KL, Neerman-Arbez M, de Moerloose P.

Haemophilia. 2015 Jan;21(1):e108-10. doi: 10.1111/hae.12584. Epub 2014 Dec 4. No abstract available.

PMID:
25471400
27.

Natural history of patients with congenital dysfibrinogenemia.

Casini A, Blondon M, Lebreton A, Koegel J, Tintillier V, de Maistre E, Gautier P, Biron C, Neerman-Arbez M, de Moerloose P.

Blood. 2015 Jan 15;125(3):553-61. doi: 10.1182/blood-2014-06-582866. Epub 2014 Oct 15.

28.

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

Stroka D, Keogh A, Vu D, Fort A, Stoffel MH, Kühni-Boghenbor K, Furer C, Banz V, Demarmels Biasiutti F, Lämmle B, Candinas D, Neerman-Arbez M.

J Thromb Haemost. 2014 Nov;12(11):1874-9. doi: 10.1111/jth.12714. Epub 2014 Oct 1.

29.

Thromboelastographic phenotypes of fibrinogen and its variants: clinical and non-clinical implications.

Galanakis DK, Neerman-Arbez M, Brennan S, Rafailovich M, Hyder L, Travlou O, Papadakis E, Manco-Johnson MJ, Henschen A, Scharrer I.

Thromb Res. 2014 Jun;133(6):1115-23. doi: 10.1016/j.thromres.2014.03.026. Epub 2014 Mar 11.

30.

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

Casini A, Lukowski S, Quintard VL, Crutu A, Zak M, Regazzoni S, de Moerloose P, Neerman-Arbez M.

Thromb Res. 2014 May;133(5):868-74. doi: 10.1016/j.thromres.2014.01.022. Epub 2014 Jan 25.

PMID:
24560896
31.

Targeted mutation of zebrafish fga models human congenital afibrinogenemia.

Fish RJ, Di Sanza C, Neerman-Arbez M.

Blood. 2014 Apr 3;123(14):2278-81. doi: 10.1182/blood-2013-12-547182. Epub 2014 Feb 19.

32.

C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and human.

Bontems F, Fish RJ, Borlat I, Lembo F, Chocu S, Chalmel F, Borg JP, Pineau C, Neerman-Arbez M, Bairoch A, Lane L.

PLoS One. 2014 Jan 27;9(1):e86476. doi: 10.1371/journal.pone.0086476. eCollection 2014.

33.

Fibrinogen geneva II: a new congenitally abnormal fibrinogen alpha chain (Gly17Asp) with a review of similar mutations resulting in abnormal knob A.

Casini A, De Maistre E, Casini-Stuppi V, Fontana P, Neerman-Arbez M, de Moerloose P.

Blood Coagul Fibrinolysis. 2014 Apr;25(3):280-2. doi: 10.1097/MBC.0000000000000039.

PMID:
24389539
34.

DNA methylation profiling of the fibrinogen gene landscape in human cells and during mouse and zebrafish development.

Vorjohann S, Pitetti JL, Nef S, Gonelle-Gispert C, Buhler L, Fish RJ, Neerman-Arbez M.

PLoS One. 2013 Aug 21;8(8):e73089. doi: 10.1371/journal.pone.0073089. eCollection 2013.

35.

Congenital fibrinogen disorders: an update.

de Moerloose P, Casini A, Neerman-Arbez M.

Semin Thromb Hemost. 2013 Sep;39(6):585-95. doi: 10.1055/s-0033-1349222. Epub 2013 Jul 12. Review.

PMID:
23852822
36.

A novel regulatory element between the human FGA and FGG genes.

Fish RJ, Neerman-Arbez M.

Thromb Haemost. 2012 Sep;108(3):427-34. doi: 10.1160/TH12-04-0274. Epub 2012 Jul 26.

PMID:
22836734
37.

Fibrinogen gene regulation.

Fish RJ, Neerman-Arbez M.

Thromb Haemost. 2012 Sep;108(3):419-26. doi: 10.1160/TH12-04-0273. Epub 2012 Jul 26. Review.

PMID:
22836683
38.

Fibrinogen Gdansk: hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro).

Mital A, Undas A, Neerman-Arbez M, Hellmann A.

Thromb Res. 2012 Sep;130(3):e196-7. doi: 10.1016/j.thromres.2012.06.021. Epub 2012 Jul 15. No abstract available.

PMID:
22795623
39.

Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia.

Tirefort Y, Alson OR, de Moerloose P, Neerman-Arbez M.

Blood Coagul Fibrinolysis. 2012 Sep;23(6):556-8. doi: 10.1097/MBC.0b013e328355a76e.

PMID:
22732251
40.

Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency.

Tirefort Y, Uhr MR, Neerman-Arbez M, de Moerloose P.

Blood Coagul Fibrinolysis. 2012 Apr;23(3):251-2. doi: 10.1097/MBC.0b013e32834ea02a.

PMID:
22322133
41.

Developmental expression and organisation of fibrinogen genes in the zebrafish.

Fish RJ, Vorjohann S, Béna F, Fort A, Neerman-Arbez M.

Thromb Haemost. 2012 Jan;107(1):158-66. doi: 10.1160/TH11-04-0221. Epub 2011 Nov 24.

PMID:
22116349
42.

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 D, Balwierz W, Iwaniec T, Vorjohann S, Neerman-Arbez M, Undas A.

Thromb Haemost. 2011 Sep;106(3):558-60. doi: 10.1160/TH11-02-0102. Epub 2011 Jul 4. No abstract available.

PMID:
21725578
43.

A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family.

Levrat E, Aboukhamis I, de Moerloose P, Farho J, Chamaa S, Reber G, Fort A, Neerman-Arbez M.

Blood Coagul Fibrinolysis. 2011 Mar;22(2):148-50. doi: 10.1097/MBC.0b013e32834330d9.

PMID:
21245743
44.

Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family.

Tchou I, Neerman-Arbez M, Beris P.

Eur J Haematol. 2011 Feb;86(2):178-9. doi: 10.1111/j.1600-0609.2010.01547.x. Epub 2010 Dec 29. No abstract available. Erratum in: Eur J Haematol. 2012 Mar;88(3):277. Isabelle, Tchou [corrected to Tchou, Isabelle]; Marguerite, Neerman-Arbez [corrected to Neerman-Arbez, Marguerite]; Photis, Beris [corrected to Beris, Photis].

PMID:
20964721
45.

A liver enhancer in the fibrinogen gene cluster.

Fort A, Fish RJ, Attanasio C, Dosch R, Visel A, Neerman-Arbez M.

Blood. 2011 Jan 6;117(1):276-82. doi: 10.1182/blood-2010-07-295410. Epub 2010 Oct 4.

46.

Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'.

Vorjohann S, Fish RJ, Biron-Andréani C, Nagaswami C, Weisel JW, Boulot P, Reyftmann L, de Moerloose P, Neerman-Arbez M.

Thromb Haemost. 2010 Nov;104(5):990-7. doi: 10.1160/TH10-03-0161. Epub 2010 Aug 30. Erratum in: Thromb Haemost. 2011 Feb 1;105(2):386.

47.

Regulation of fibrinogen production by microRNAs.

Fort A, Borel C, Migliavacca E, Antonarakis SE, Fish RJ, Neerman-Arbez M.

Blood. 2010 Oct 7;116(14):2608-15. doi: 10.1182/blood-2010-02-268011. Epub 2010 Jun 22.

PMID:
20570858
48.

Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete).

Travlou A, Gialeraki A, Merkouri E, Politou M, Sfyridaki A, Neerman-Arbez M.

Thromb Res. 2010 Aug;126(2):e162-4. doi: 10.1016/j.thromres.2010.04.011. Epub 2010 May 23. No abstract available.

PMID:
20546853
49.

Functional characterisation of plasma fibrin clots in Polish carriers of fibrinogen gammaArg275His mutation (fibrinogen Zabrze).

Undas A, Pastuszczak M, Iwaniec T, Kapelak K, Neerman-Arbez M.

Thromb Haemost. 2010 Aug;104(2):415-7. doi: 10.1160/TH10-02-0114. Epub 2010 May 27. No abstract available.

PMID:
20508898
50.

Loss of Dicer in Sertoli cells has a major impact on the testicular proteome of mice.

Papaioannou MD, Lagarrigue M, Vejnar CE, Rolland AD, Kühne F, Aubry F, Schaad O, Fort A, Descombes P, Neerman-Arbez M, Guillou F, Zdobnov EM, Pineau C, Nef S.

Mol Cell Proteomics. 2011 Apr;10(4):M900587MCP200. doi: 10.1074/mcp.M900587-MCP200. Epub 2010 May 13.

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