Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

137 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P. Schiff M, et al. Among authors: de saint martin a, de barace c, de maistre e, de lonlay p. J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. J Med Genet. 2017. PMID: 28954837 Review.
De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.
Thevenon J, Callier P, Thauvin-Robinet C, Mejean N, Falcon-Eicher S, Maynadie M, de Maistre E, Bidot S, Huet F, Beri-Dexheimer M, Jonveaux P, Mugneret F, Faivre L. Thevenon J, et al. Among authors: de maistre e. Am J Med Genet A. 2011 Jan;155A(1):126-9. doi: 10.1002/ajmg.a.33809. Am J Med Genet A. 2011. PMID: 21204219 No abstract available.
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. Casini A, et al. Among authors: de moerloose p, de maistre e. Blood. 2015 Jan 15;125(3):553-61. doi: 10.1182/blood-2014-06-582866. Epub 2014 Oct 15. Blood. 2015. PMID: 25320241 Free PMC article.
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux MF, Glembotsky AC, Muñiz-Diaz E, Randi ML, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, Balduini CL, Bayart S, Bauters A, Benabdallah-Guedira S, Boehlen F, Borg JY, Bottega R, Bussel J, De Rocco D, de Maistre E, Faleschini M, Falcinelli E, Ferrari S, Ferster A, Fierro T, Fleury D, Fontana P, James C, Lanza F, Le Cam Duchez V, Loffredo G, Magini P, Martin-Coignard D, Menard F, Mercier S, Mezzasoma A, Minuz P, Nichele I, Notarangelo LD, Pippucci T, Podda GM, Pouymayou C, Rigouzzo A, Royer B, Sie P, Siguret V, Trichet C, Tucci A, Saposnik B, Veneri D; European Hematology Association – Scientific Working Group on Thrombocytopenias and Platelet Function Disorders. Noris P, et al. Among authors: de rocco d, de candia e, de maistre e. Haematologica. 2014 Aug;99(8):1387-94. doi: 10.3324/haematol.2014.105924. Epub 2014 Apr 24. Haematologica. 2014. PMID: 24763399 Free PMC article.
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders.
Orsini S, Noris P, Bury L, Heller PG, Santoro C, Kadir RA, Butta NC, Falcinelli E, Cid AR, Fabris F, Fouassier M, Miyazaki K, Lozano ML, Zúñiga P, Flaujac C, Podda GM, Bermejo N, Favier R, Henskens Y, De Maistre E, De Candia E, Mumford AD, Ozdemir GN, Eker I, Nurden P, Bayart S, Lambert MP, Bussel J, Zieger B, Tosetto A, Melazzini F, Glembotsky AC, Pecci A, Cattaneo M, Schlegel N, Gresele P; European Hematology Association - Scientific Working Group (EHA-SWG) on thrombocytopenias and platelet function disorders. Orsini S, et al. Among authors: de candia e, de maistre e. Haematologica. 2017 Jul;102(7):1192-1203. doi: 10.3324/haematol.2016.160754. Epub 2017 Apr 6. Haematologica. 2017. PMID: 28385783 Free PMC article.
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp MC, Alessi MC, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux MF, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Savoia A, et al. Among authors: de rocco d, de maistre e. Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24934643 Review.
Heparin-induced thrombocytopenia: Construction of a pretest diagnostic score derived from the analysis of a prospective multinational database, with internal validation.
Tardy-Poncet B, de Maistre E, Pouplard C, Presles E, Alhenc-Gelas M, Lasne D, Horellou MH, Mouton C, Serre-Sapin A, Bauters A, Nguyen P, Mullier F, Perrin J, Le Gal G, Morange PE, Grunebaum L, Lillo-Le Louet A, Elalamy I, Gruel Y, Greinacher A, Lecompte T, Tardy B; GFHT-HIT study group. Tardy-Poncet B, et al. Among authors: de maistre e. J Thromb Haemost. 2021 Aug;19(8):1959-1972. doi: 10.1111/jth.15344. Epub 2021 Jun 14. J Thromb Haemost. 2021. PMID: 33872452 Free article.
Comparative Analysis of a French Prospective Series of 144 Patients with Heparin-Induced Thrombocytopenia (FRIGTIH) and the Literature.
Gruel Y, Vayne C, Rollin J, Weber P, Faille D, Bauters A, Macchi L, Alhenc-Gelas M, Lebreton A, De Maistre E, Voisin S, Gouilleux-Gruart V, Perrin J, Tardy-Poncet B, Elalamy I, Lavenu-Bombled C, Mouton C, Biron C, Ternisien C, Nedelec-Gac F, Duchemin J, De Raucourt E, Gouin-Thibault I, Rugeri L, Tardy B, Giraudeau B, Bejan-Angoulvant T, Pouplard C. Gruel Y, et al. Among authors: de maistre e, de raucourt e. Thromb Haemost. 2020 Jul;120(7):1096-1107. doi: 10.1055/s-0040-1712957. Epub 2020 Jun 22. Thromb Haemost. 2020. PMID: 32572863
Prospective evaluation of a rapid nanoparticle-based lateral flow immunoassay (STic Expert(®) HIT) for the diagnosis of heparin-induced thrombocytopenia.
Leroux D, Hezard N, Lebreton A, Bauters A, Suchon P, de Maistre E, Biron C, Huisse MG, Ternisien C, Voisin S, Gruel Y, Pouplard C. Leroux D, et al. Among authors: de maistre e. Br J Haematol. 2014 Sep;166(5):774-82. doi: 10.1111/bjh.12939. Epub 2014 May 12. Br J Haematol. 2014. PMID: 24815503 Free article.
137 results