Fretigny M - Search Results

1

Diagnosis and management challenges in patients with mild haemophilia A and discrepant FVIII measurements.

Trossaert M, Lienhart A, Nougier C, Fretigny M, Sigaud M, Meunier S, Fouassier M, Ternisien C, Negrier C, Dargaud Y. Trossaert M, et al. Among authors: fretigny m. Haemophilia. 2014 Jul;20(4):550-8. doi: 10.1111/hae.12381. Epub 2014 Feb 12. Haemophilia. 2014. PMID: 24517184

2

Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients.

Dericquebourg A, Fretigny M, Chatron N, Tardy B, Zawadzki C, Chambost H, Vinciguerra C, Jourdy Y. Dericquebourg A, et al. Among authors: fretigny m. J Thromb Haemost. 2023 Apr;21(4):828-837. doi: 10.1016/j.jtha.2022.12.005. Epub 2022 Dec 22. J Thromb Haemost. 2023. PMID: 36696202 Free article.

3

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

Masson J, Pebrel-Richard C, Egloff M, Frétigny M, Beaumont M, Uguen K, Rollat-Farnier PA, Diguet F, Perthus I, Le Gudayer G, Haye D, Dupeyron MB, Putoux A, Raskin-Champion F, Till M, Chatron N, Doray B, Bardel C, Vinciguerra C, Sanlaville D, Schluth-Bolard C. Masson J, et al. Among authors: fretigny m. Clin Genet. 2023 Apr;103(4):401-412. doi: 10.1111/cge.14291. Epub 2023 Jan 19. Clin Genet. 2023. PMID: 36576162

4

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. Victor M, et al. Among authors: fretigny m. Haemophilia. 2009 Mar;15(2):610-2. doi: 10.1111/j.1365-2516.2008.01966.x. Epub 2009 Feb 1. Haemophilia. 2009. PMID: 19187192 No abstract available.

5

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

Vinciguerra C, Frétigny M, Négrier C. Vinciguerra C, et al. Among authors: fretigny m. Arch Pediatr. 2010 Jun;17(6):620-1. doi: 10.1016/S0929-693X(10)70027-0. Arch Pediatr. 2010. PMID: 20654809 French. No abstract available.

6

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. Nougier C, et al. Among authors: fretigny m. Haemophilia. 2014 Mar;20(2):e149-56. doi: 10.1111/hae.12346. Epub 2013 Dec 30. Haemophilia. 2014. PMID: 24372689

7

Management of bleeding in severe factor V deficiency with a factor V inhibitor.

Ardillon L, Lefrançois A, Graveleau J, Fouassier M, Ternisien C, Sigaud M, Fretigny M, Archambeaud I, Trossaërt M. Ardillon L, et al. Among authors: fretigny m. Vox Sang. 2014 Jul;107(1):97-9. doi: 10.1111/vox.12134. Epub 2014 Feb 12. Vox Sang. 2014. PMID: 24517203

8

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. Roualdes O, et al. Among authors: fretigny m. Haemophilia. 2015 May;21(3):e202-e209. doi: 10.1111/hae.12651. Epub 2015 Feb 24. Haemophilia. 2015. PMID: 25708597

9

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. Jourdy Y, et al. Among authors: fretigny m. Haemophilia. 2016 Jul;22(4):583-9. doi: 10.1111/hae.12906. Epub 2016 Feb 25. Haemophilia. 2016. PMID: 26915717

10

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. Rugeri L, et al. Among authors: fretigny m. Haemophilia. 2016 Sep;22(5):e439-43. doi: 10.1111/hae.12960. Epub 2016 Jun 28. Haemophilia. 2016. PMID: 27353798 No abstract available.

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