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Items: 9

1.

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

Bernardis I, Chiesi L, Tenedini E, Artuso L, Percesepe A, Artusi V, Simone ML, Manfredini R, Camparini M, Rinaldi C, Ciardella A, Graziano C, Balducci N, Tranchina A, Cavallini GM, Pietrangelo A, Marigo V, Tagliafico E.

Biomed Res Int. 2016;2016:6341870. doi: 10.1155/2016/6341870. Epub 2016 Dec 29.

2.

Epidemiology and clinical relevance of mutations in postpolycythemia vera and postessential thrombocythemia myelofibrosis: A study on 359 patients of the AGIMM group.

Rotunno G, Pacilli A, Artusi V, Rumi E, Maffioli M, Delaini F, Brogi G, Fanelli T, Pancrazzi A, Pietra D, Bernardis I, Belotti C, Pieri L, Sant'Antonio E, Salmoiraghi S, Cilloni D, Rambaldi A, Passamonti F, Barbui T, Manfredini R, Cazzola M, Tagliafico E, Vannucchi AM, Guglielmelli P.

Am J Hematol. 2016 Jul;91(7):681-6. doi: 10.1002/ajh.24377. Epub 2016 May 11.

3.

NF-YA splice variants have different roles on muscle differentiation.

Basile V, Baruffaldi F, Dolfini D, Belluti S, Benatti P, Ricci L, Artusi V, Tagliafico E, Mantovani R, Molinari S, Imbriano C.

Biochim Biophys Acta. 2016 Apr;1859(4):627-38. doi: 10.1016/j.bbagrm.2016.02.011. Epub 2016 Feb 26.

4.

Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa.

Tenedini E, Artuso L, Bernardis I, Artusi V, Percesepe A, De Rosa L, Contin R, Manfredini R, Pellacani G, Giannetti A, Pagani J, De Luca M, Tagliafico E.

Br J Dermatol. 2015 Sep;173(3):731-8. doi: 10.1111/bjd.13858. Epub 2015 Jul 29.

PMID:
25913354
5.

Impact of mutational status on outcomes in myelofibrosis patients treated with ruxolitinib in the COMFORT-II study.

Guglielmelli P, Biamonte F, Rotunno G, Artusi V, Artuso L, Bernardis I, Tenedini E, Pieri L, Paoli C, Mannarelli C, Fjerza R, Rumi E, Stalbovskaya V, Squires M, Cazzola M, Manfredini R, Harrison C, Tagliafico E, Vannucchi AM; COMFORT-II Investigators; Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative (AGIMM) Investigators.

Blood. 2014 Apr 3;123(14):2157-60. doi: 10.1182/blood-2013-11-536557. Epub 2014 Jan 23.

PMID:
24458439
6.

Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms.

Tenedini E, Bernardis I, Artusi V, Artuso L, Roncaglia E, Guglielmelli P, Pieri L, Bogani C, Biamonte F, Rotunno G, Mannarelli C, Bianchi E, Pancrazzi A, Fanelli T, Malagoli Tagliazucchi G, Ferrari S, Manfredini R, Vannucchi AM, Tagliafico E; AGIMM investigators.

Leukemia. 2014 May;28(5):1052-9. doi: 10.1038/leu.2013.302. Epub 2013 Oct 22.

7.

Molecular analysis of RAS-RAF tyrosine-kinase signaling pathway alterations in patients with plasma cell myeloma.

Grossmann V, Bacher U, Artusi V, Kohlmann A, Nadarajah N, Kern W, Schnittger S, Haferlach T, Haferlach C.

Blood Cancer J. 2012 Aug 31;2:e85. doi: 10.1038/bcj.2012.33. No abstract available.

8.

Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy.

Tedesco FS, Gerli MF, Perani L, Benedetti S, Ungaro F, Cassano M, Antonini S, Tagliafico E, Artusi V, Longa E, Tonlorenzi R, Ragazzi M, Calderazzi G, Hoshiya H, Cappellari O, Mora M, Schoser B, Schneiderat P, Oshimura M, Bottinelli R, Sampaolesi M, Torrente Y, Broccoli V, Cossu G.

Sci Transl Med. 2012 Jun 27;4(140):140ra89. doi: 10.1126/scitranslmed.3003541.

9.

EZH2 mutations and their association with PICALM-MLLT10 positive acute leukaemia.

Grossmann V, Bacher U, Kohlmann A, Artusi V, Klein HU, Dugas M, Schnittger S, Alpermann T, Kern W, Haferlach T, Haferlach C.

Br J Haematol. 2012 May;157(3):387-90. doi: 10.1111/j.1365-2141.2011.08986.x. Epub 2012 Jan 12. No abstract available.

PMID:
22235851

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