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Items: 1 to 50 of 60

1.

Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts.

Lassalle F, Marmontel O, Zawadzki C, Fretigny M, Bouvagnet P, Vinciguerra C.

Haemophilia. 2018 Jul;24(4):e213-e221. doi: 10.1111/hae.13480. Epub 2018 Apr 14.

PMID:
29656491
2.

Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.

Jourdy Y, Janin A, Fretigny M, Lienhart A, Négrier C, Bozon D, Vinciguerra C.

Am J Hum Genet. 2018 Feb 1;102(2):199-206. doi: 10.1016/j.ajhg.2017.12.010. Epub 2018 Jan 18.

3.

Perilesional edema in brain cancer: Independent prognosticator or epiphenomenon of biomolecular signature?

Nardone V, Vinciguerra C, Federico A, Cerase A, Pirtoli L, Tini P.

Radiother Oncol. 2018 Jan 10. pii: S0167-8140(17)32775-5. doi: 10.1016/j.radonc.2017.12.020. [Epub ahead of print] No abstract available.

PMID:
29331541
4.

Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?

Jourdy Y, Enjolras N, Le Quellec S, Bordet JC, Négrier C, Vinciguerra C, Dargaud Y.

PLoS One. 2017 Nov 16;12(11):e0188213. doi: 10.1371/journal.pone.0188213. eCollection 2017.

5.

Analyses of the FranceCoag cohort support differences in immunogenicity among one plasma-derived and two recombinant factor VIII brands in boys with severe hemophilia A.

Calvez T, Chambost H, d'Oiron R, Dalibard V, Demiguel V, Doncarli A, Gruel Y, Huguenin Y, Lutz P, Rothschild C, Vinciguerra C, Goudemand J; for FranceCoag Collaborators.

Haematologica. 2018 Jan;103(1):179-189. doi: 10.3324/haematol.2017.174706. Epub 2017 Oct 12.

6.

Music intervention efficacy in elderly: a promising non-pharmacological approach to cognitive dysfunctions.

Vinciguerra C.

Neurol Sci. 2017 Jun;38(6):933-934. doi: 10.1007/s10072-017-3011-9. No abstract available.

PMID:
28584906
7.

Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.

Jourdy Y, Chatron N, Fretigny M, Carage ML, Chambost H, Claeyssens-Donadel S, Roussel-Robert V, Negrier C, Sanlaville D, Vinciguerra C.

Haemophilia. 2017 Jul;23(4):e316-e323. doi: 10.1111/hae.13218. Epub 2017 May 5.

PMID:
28475226
8.

Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease.

Penel-Page M, Meunier S, Fretigny M, Le Quellec S, Boisseau P, Vinciguerra C, Ternisien C, Rugeri L.

Platelets. 2017 Dec;28(8):825-828. doi: 10.1080/09537104.2017.1293811. Epub 2017 Apr 24.

PMID:
28436749
9.

Perilesional edema in brain metastasis from non-small cell lung cancer (NSCLC) as predictor of response to radiosurgery (SRS).

Tini P, Nardone V, Pastina P, Battaglia G, Vinciguerra C, Carfagno T, Rubino G, Carbone SF, Sebaste L, Cerase A, Federico A, Pirtoli L.

Neurol Sci. 2017 Jun;38(6):975-982. doi: 10.1007/s10072-017-2876-y. Epub 2017 Mar 4.

PMID:
28260188
10.

GABAAergic dysfunction in the olivary-cerebellar-brainstem network may cause eye oscillations and body tremor.

Pretegiani E, Rosini F, Rocchi R, Ginanneschi F, Vinciguerra C, Optican LM, Rufa A.

Clin Neurophysiol. 2017 Mar;128(3):408-410. doi: 10.1016/j.clinph.2016.12.014. Epub 2016 Dec 29. No abstract available.

PMID:
28160745
11.

Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.

Jourdy Y, Chatron N, Carage ML, Fretigny M, Meunier S, Zawadzki C, Gay V, Negrier C, Sanlaville D, Vinciguerra C.

J Thromb Haemost. 2016 Oct;14(10):1988-1993. doi: 10.1111/jth.13430. Epub 2016 Sep 17.

PMID:
27477789
12.

Paroxysmal supraventricular tachycardia in anti-musk Myasthenia gravis: A case report.

Di Giovanni M, Battisti C, Salvatore S, Tumminelli G, Vinciguerra C, Ruocco G, Federico A.

J Neurol Sci. 2016 Oct 15;369:250-251. doi: 10.1016/j.jns.2016.08.010. Epub 2016 Aug 4. No abstract available.

PMID:
27653899
13.

Genotyping might help therapeutic decision-making in patients with von Willebrand disease type 2 B.

Rugeri L, Fretigny M, Dargaud Y, Nougier C, Vinciguerra C.

Haemophilia. 2016 Sep;22(5):e439-43. doi: 10.1111/hae.12960. Epub 2016 Jun 28. No abstract available.

PMID:
27353798
14.

Persistent hiccup after chemo-radiotherapy in nasopharyngeal cancer: an atypical side effect?

Nardone V, Vinciguerra C, Tini P, Rocchi R, Pirtoli L.

Acta Neurol Belg. 2017 Mar;117(1):381-383. doi: 10.1007/s13760-016-0659-5. Epub 2016 Jun 21. No abstract available.

PMID:
27323756
15.

[Identification of knowledge deficits of pharmacy students at the beginning of the fifth year of pharmacy practice experience: Proposals to change the content of academic programs].

Charpiat B, Derfoufi S, Larger M, Janoly-Dumenil A, Mouchoux C, Allenet B, Tod M, Grassin J, Boulieu R, Catala O, Bedouch P, Goudable J, Vinciguerra C.

Ann Pharm Fr. 2016 Sep;74(5):404-12. doi: 10.1016/j.pharma.2016.01.001. Epub 2016 Mar 2. French.

PMID:
26944892
16.

Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.

Jourdy Y, Nougier C, Roualdes O, Fretigny M, Durand B, Negrier C, Vinciguerra C.

Haemophilia. 2016 Jul;22(4):583-9. doi: 10.1111/hae.12906. Epub 2016 Feb 25.

PMID:
26915717
17.

Eye movement abnormalities in a patient with Zellweger spectrum disorder.

Rosini F, Vinciguerra C, Mignarri A, Di Giovanni M, Federico A, Rufa A.

Neurol Sci. 2016 Jun;37(6):1013-5. doi: 10.1007/s10072-016-2499-8. Epub 2016 Feb 5. No abstract available.

PMID:
26850714
18.

Hydroxychloroquine neuromyotoxicity: a case with rapid course and complete recovery.

Vinciguerra C, Sicurelli F, Fioravanti A, Malandrini A, Battisti C, Federico A.

Neurol Sci. 2015 Dec;36(12):2293-4. doi: 10.1007/s10072-015-2355-2. Epub 2015 Aug 11. No abstract available.

PMID:
26260758
19.

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.

Nurden AT, Pillois X, Fiore M, Alessi MC, Bonduel M, Dreyfus M, Goudemand J, Gruel Y, Benabdallah-Guerida S, Latger-Cannard V, Négrier C, Nugent D, Oiron RD, Rand ML, Sié P, Trossaert M, Alberio L, Martins N, Sirvain-Trukniewicz P, Couloux A, Canault M, Fronthroth JP, Fretigny M, Nurden P, Heilig R, Vinciguerra C.

Hum Mutat. 2015 May;36(5):548-61. doi: 10.1002/humu.22776.

20.

Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency.

Roualdes O, Nougier C, Fretigny M, Talagrand E, Durand B, Negrier C, Vinciguerra C.

Haemophilia. 2015 May;21(3):e202-9. doi: 10.1111/hae.12651. Epub 2015 Feb 24.

PMID:
25708597
21.

Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Vinciguerra C, Federighi P, Rosini F, Pretegiani E, Cardaioli E, Dotti MT, Sicurelli F, Federico A, Rufa A.

J Neurol Sci. 2015 Mar 15;350(1-2):107-9. doi: 10.1016/j.jns.2015.01.031. Epub 2015 Jan 29. No abstract available.

PMID:
25656101
22.

Recombinant factor VIII products and inhibitor development in previously untreated boys with severe hemophilia A.

Calvez T, Chambost H, Claeyssens-Donadel S, d'Oiron R, Goulet V, Guillet B, Héritier V, Milien V, Rothschild C, Roussel-Robert V, Vinciguerra C, Goudemand J; FranceCoag Network.

Blood. 2014 Nov 27;124(23):3398-408. doi: 10.1182/blood-2014-07-586347. Epub 2014 Sep 24.

23.

Spatial ranking strategy and enhanced peripheral vision discrimination optimize performance and efficiency of visual sequential search.

Veneri G, Pretegiani E, Fargnoli F, Rosini F, Vinciguerra C, Federighi P, Federico A, Rufa A.

Eur J Neurosci. 2014 Sep;40(5):2833-41. doi: 10.1111/ejn.12639. Epub 2014 Jun 4.

PMID:
24893753
24.

Characterization of four novel molecular changes in the promoter region of the factor VIII gene.

Nougier C, Roualdes O, Fretigny M, d'Oiron R, Costa C, Negrier C, Vinciguerra C.

Haemophilia. 2014 Mar;20(2):e149-56. doi: 10.1111/hae.12346. Epub 2013 Dec 30.

PMID:
24372689
25.

Homozygosity and severity of phenotypic presentation in a CADASIL family.

Vinciguerra C, Rufa A, Bianchi S, Sperduto A, De Santis M, Malandrini A, Dotti MT, Federico A.

Neurol Sci. 2014 Jan;35(1):91-3. doi: 10.1007/s10072-013-1580-9. Epub 2013 Nov 26.

PMID:
24277202
26.

[Student assessment of pharmacy practice experiences in France: a national survey].

Girollet T, Beltier M, Catala O, Vinciguerra C, Charpiat B.

Ann Pharm Fr. 2013 May;71(3):164-73. doi: 10.1016/j.pharma.2013.02.003. Epub 2013 Mar 11. French.

PMID:
23622695
27.

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.

Mignarri A, Vinciguerra C, Giorgio A, Ferdinandusse S, Waterham H, Wanders R, Bertini E, Dotti MT, Federico A.

JIMD Rep. 2012;6:43-6. doi: 10.1007/8904_2011_102. Epub 2012 Jan 29.

28.

First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.

Elmahmoudi H, Khodjet-el-khil H, Wigren E, Jlizi A, Zahra K, Pellechia D, Vinciguerra C, Meddeb B, Elggaaied AB, Gouider E.

Diagn Pathol. 2012 Aug 10;7:93. doi: 10.1186/1746-1596-7-93.

29.

Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis.

Fiore M, Nurden AT, Vinciguerra C, Nurden P, Pillois X.

Thromb Haemost. 2010 Nov;104(5):1076-7. doi: 10.1160/TH10-05-0268. Epub 2010 Sep 30. No abstract available.

PMID:
20886184
30.

[Contribution of genetic analysis in management of hemophilie patients].

Vinciguerra C, Frétigny M, Négrier C.

Arch Pediatr. 2010 Jun;17(6):620-1. doi: 10.1016/S0929-693X(10)70027-0. French. No abstract available.

PMID:
20654809
31.

A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia.

Nurden AT, Fernandes H, Fiore M, Nurden P, Vinciguerra C, Martins N, Sirvain-Trukniewicz P, Couloux A, Heilig R, Pillois X.

Platelets. 2010;21(6):498-500. doi: 10.3109/09537101003771528. No abstract available.

PMID:
20438394
32.

Contribution of genetical analysis for diagnosis of von Willebrand's disease type 2B.

Victor M, Rugeri L, Nougier C, Meunier S, Fretigny M, Negrier C, Vinciguerra C.

Haemophilia. 2009 Mar;15(2):610-2. doi: 10.1111/j.1365-2516.2008.01966.x. Epub 2009 Feb 1. No abstract available.

PMID:
19187192
33.

Identification of new and known polymorphisms in glycoprotein IIb and IIIa genes by denaturing gradient gel electrophoresis.

Negrier C, Grenier C, Attali O, Dechavanne M, Vinciguerra C.

Platelets. 1998;9(6):374-80.

PMID:
16793721
35.

Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations.

Vinciguerra C, Zawadzki C, Dargaud Y, Pernod G, Berger C, Nougier C, Négrier C.

Thromb Haemost. 2006 Apr;95(4):593-9.

PMID:
16601827
36.

Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.

Strassel C, David T, Eckly A, Baas MJ, Moog S, Ravanat C, Trzeciak MC, Vinciguerra C, Cazenave JP, Gachet C, Lanza F.

J Thromb Haemost. 2006 Jan;4(1):217-28.

37.

Four cases of hypofibrinogenemia associated with four novel mutations.

Hanss M, Ffrench P, Vinciguerra C, Bertrand MA, Mazancourt P.

J Thromb Haemost. 2005 Oct;3(10):2347-9. No abstract available.

38.

Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.

Jaillet J, Robert-Gnansia E, Till M, Vinciguerra C, Edery P.

Birth Defects Res A Clin Mol Teratol. 2005 Mar;73(3):188-93.

PMID:
15751048
39.

Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion.

Enjolras N, Plantier JL, Rodriguez MH, Rea M, Attali O, Vinciguerra C, Negrier C.

J Thromb Haemost. 2004 Jul;2(7):1143-54.

40.

Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy.

Dargaud Y, Trzeciak MC, Meunier S, Angei C, Pellechia D, Négrier C, Vinciguerra C.

Br J Haematol. 2003 Oct;123(2):342-5. Erratum in: Br J Haematol. 2004 Jan;124(2):256. Dargaud Yesmin [corrected to Dargaud Yesim].

PMID:
14531918
41.

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

Valleix S, Vinciguerra C, Lavergne JM, Leuer M, Delpech M, Negrier C.

Blood. 2002 Oct 15;100(8):3034-6.

42.

Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes.

Vinciguerra C, Bordet JC, Beaune G, Grenier C, Dechavanne M, Négrier C.

Platelets. 2001 Dec;12(8):486-95.

PMID:
11798398
43.

[Postoperative combined medullary sclerosis revealing Biermer's disease: toxic effect of nitrous oxide].

Vinciguerra C, Chazerain P, Olivero de Rubiana JP, Moulonguet A, Ziza JM.

Rev Neurol (Paris). 2000 Jul;156(6-7):665-7. Review. French.

PMID:
10891804
44.

Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.

Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, Ménart C, Sobas F, Dechavanne M, Négrier C.

Thromb Haemost. 1999 Nov;82(5):1437-42.

PMID:
10595634
45.

ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families.

Nichols WC, Terry VH, Wheatley MA, Yang A, Zivelin A, Ciavarella N, Stefanile C, Matsushita T, Saito H, de Bosch NB, Ruiz-Saez A, Torres A, Thompson AR, Feinstein DI, White GC, Negrier C, Vinciguerra C, Aktan M, Kaufman RJ, Ginsburg D, Seligsohn U.

Blood. 1999 Apr 1;93(7):2261-6.

46.

[Hemophilia. Diagnosis, genetics, complications].

Négrier C, Vinciguerra C, Pinson S, Plauchu H.

Rev Prat. 1998 Mar 15;48(6):657-9. Review. French. No abstract available.

PMID:
9781139
47.

Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia.

Negrier C, Vinciguerra C, Attali O, Grenier C, Larcher ME, Dechavanne M.

Br J Haematol. 1998 Jan;100(1):33-9.

PMID:
9450787
48.

Thromboangiitis obliterans with inaugural rheumatic manifestations. A report of three cases.

Lambotte O, Chazerain P, Vinciguerra C, Meyer O, Ziza JM.

Rev Rhum Engl Ed. 1997 May;64(5):334-8.

PMID:
9190007
49.

A nonsense mutation in the GPIIb heavy chain (Ser 870-->stop) impairs platelet GPIIb-IIIa expression.

Vinciguerra C, Khelif A, Alemany M, Morle F, Grenier C, Uzan G, Gulino D, Dechavanne M, Negrier C.

Br J Haematol. 1996 Nov;95(2):399-407.

PMID:
8904900
50.

Combined hereditary disorders of haemophilia B Leyden (-6 G-->A) and type 1 von Willebrand disease.

Pernod G, Vinciguerra C, Gaucher C, Mazurier C, Polack B, Négrier C.

Thromb Haemost. 1996 Aug;76(2):151-5.

PMID:
8865521

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