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Items: 16

1.

A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.

Sana ME, Quilliam LA, Spitaleri A, Pezzoli L, Marchetti D, Lodrini C, Candiago E, Lincesso AR, Ferrazzi P, Iascone M.

PLoS One. 2016 Dec 21;11(12):e0168501. doi: 10.1371/journal.pone.0168501. eCollection 2016.

2.

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

Acquaviva F, Sana ME, Della Monica M, Pinelli M, Postorivo D, Fontana P, Falco MT, Nardone AM, Lonardo F, Iascone M, Scarano G.

Am J Med Genet A. 2017 Jan;173(1):231-238. doi: 10.1002/ajmg.a.37989. Epub 2016 Sep 28. Review.

PMID:
27683195
3.

Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.

Castori M, Morlino S, Sana ME, Paradisi M, Tadini G, Angioni A, Malacarne M, Grammatico P, Iascone M, Forzano F.

Clin Exp Dermatol. 2016 Aug;41(6):632-5. doi: 10.1111/ced.12857. Epub 2016 Jun 24.

PMID:
27339777
4.

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

Castori M, Pascolini G, Parisi V, Sana ME, Novelli A, Nürnberg P, Iascone M, Grammatico P.

Am J Med Genet A. 2015 Apr;167A(4):842-51. doi: 10.1002/ajmg.a.36983. Epub 2015 Feb 23.

PMID:
25708316
5.

A large scale expression study associates uc.283-plus lncRNA with pluripotent stem cells and human glioma.

Galasso M, Dama P, Previati M, Sandhu S, Palatini J, Coppola V, Warner S, Sana ME, Zanella R, Abujarour R, Desponts C, Teitell MA, Garzon R, Calin G, Croce CM, Volinia S.

Genome Med. 2014 Oct 2;6(10):76. doi: 10.1186/s13073-014-0076-4. eCollection 2014.

6.

Pluripotent stem cell miRNAs and metastasis in invasive breast cancer.

Volinia S, Nuovo G, Drusco A, Costinean S, Abujarour R, Desponts C, Garofalo M, Baffa R, Aeqilan R, Maharry K, Sana ME, Di Leva G, Gasparini P, Dama P, Marchesini J, Galasso M, Manfrini M, Zerbinati C, Corrà F, Wise T, Wojcik SE, Previati M, Pichiorri F, Zanesi N, Alder H, Palatini J, Huebner KF, Shapiro CL, Negrini M, Vecchione A, Rosenberg AL, Croce CM, Garzon R.

J Natl Cancer Inst. 2014 Oct 11;106(12). pii: dju324. doi: 10.1093/jnci/dju324. Print 2014 Dec. Erratum in: J Natl Cancer Inst. 2014 Nov:106(11):dju373doi:10.1093/jnci/dju373. Garzon, Maria Elena Sana Ramiro [Corrected to Garzon, Ramiro and Sana, Maria Elena].

7.

Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

Girolami F, Iascone M, Tomberli B, Bardi S, Benelli M, Marseglia G, Pescucci C, Pezzoli L, Sana ME, Basso C, Marziliano N, Merlini PA, Fornaro A, Cecchi F, Torricelli F, Olivotto I.

Circ Cardiovasc Genet. 2014 Dec;7(6):741-50. doi: 10.1161/CIRCGENETICS.113.000486. Epub 2014 Aug 30.

PMID:
25173926
8.

Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.

Sana ME, Spitaleri A, Spiliotopoulos D, Pezzoli L, Preda L, Musco G, Ferrazzi P, Iascone M.

Am J Med Genet A. 2014 Aug;164A(8):2069-73. doi: 10.1002/ajmg.a.36588. Epub 2014 Apr 29.

PMID:
24782337
9.

Letter by Iascone et al regarding article, "Population-based variation in cardiomyopathy genes".

Iascone M, Sana ME, Ferrazzi P.

Circ Cardiovasc Genet. 2012 Dec;5(6):e57; author reply e58. doi: 10.1161/CIRCGENETICS.112.965038. No abstract available.

PMID:
23250904
10.

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.

Iascone M, Sana ME, Pezzoli L, Bianchi P, Marchetti D, Fasolini G, Sadou Y, Locatelli A, Fabiani F, Mangili G, Ferrazzi P.

Circulation. 2012 Dec 4;126(23):2764-8. doi: 10.1161/CIRCULATIONAHA.112.119883. No abstract available.

PMID:
23212998
11.

A new mutational mechanism for hypertrophic cardiomyopathy.

Pezzoli L, Sana ME, Ferrazzi P, Iascone M.

Gene. 2012 Oct 10;507(2):165-9. doi: 10.1016/j.gene.2012.06.097. Epub 2012 Jul 20.

PMID:
22820391
12.

Breast cancer signatures for invasiveness and prognosis defined by deep sequencing of microRNA.

Volinia S, Galasso M, Sana ME, Wise TF, Palatini J, Huebner K, Croce CM.

Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):3024-9. doi: 10.1073/pnas.1200010109. Epub 2012 Feb 6.

13.

miR-34a induces the downregulation of both E2F1 and B-Myb oncogenes in leukemic cells.

Zauli G, Voltan R, di Iasio MG, Bosco R, Melloni E, Sana ME, Secchiero P.

Clin Cancer Res. 2011 May 1;17(9):2712-24. doi: 10.1158/1078-0432.CCR-10-3244. Epub 2011 Mar 2.

14.

GAMES identifies and annotates mutations in next-generation sequencing projects.

Sana ME, Iascone M, Marchetti D, Palatini J, Galasso M, Volinia S.

Bioinformatics. 2011 Jan 1;27(1):9-13. doi: 10.1093/bioinformatics/btq603. Epub 2010 Oct 22.

PMID:
20971986
15.

Reprogramming of miRNA networks in cancer and leukemia.

Volinia S, Galasso M, Costinean S, Tagliavini L, Gamberoni G, Drusco A, Marchesini J, Mascellani N, Sana ME, Abu Jarour R, Desponts C, Teitell M, Baffa R, Aqeilan R, Iorio MV, Taccioli C, Garzon R, Di Leva G, Fabbri M, Catozzi M, Previati M, Ambs S, Palumbo T, Garofalo M, Veronese A, Bottoni A, Gasparini P, Harris CC, Visone R, Pekarsky Y, de la Chapelle A, Bloomston M, Dillhoff M, Rassenti LZ, Kipps TJ, Huebner K, Pichiorri F, Lenze D, Cairo S, Buendia MA, Pineau P, Dejean A, Zanesi N, Rossi S, Calin GA, Liu CG, Palatini J, Negrini M, Vecchione A, Rosenberg A, Croce CM.

Genome Res. 2010 May;20(5):589-99. doi: 10.1101/gr.098046.109.

16.

Non-coding RNAs: a key to future personalized molecular therapy?

Galasso M, Sana ME, Volinia S.

Genome Med. 2010 Feb 18;2(2):12. doi: 10.1186/gm133.

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