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Items: 1 to 20 of 59

1.

A Child With Ichthyosis and Liver Failure.

Indolfi G, Iascone M, Remaschi G, Donati MA, Nesti C, Rubegni A, Pezzoli L, Buccoliero AM, Santorelli FM, Resti M.

J Pediatr Gastroenterol Nutr. 2017 May 27. doi: 10.1097/MPG.0000000000001645. [Epub ahead of print] No abstract available.

PMID:
28562522
2.

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.

3.

Mutual epithelium-macrophage dependency in liver carcinogenesis mediated by ST18.

Ravà M, D'Andrea A, Doni M, Kress TR, Ostuni R, Bianchi V, Morelli MJ, Collino A, Ghisletti S, Nicoli P, Recordati C, Iascone M, Sonzogni A, D'Antiga L, Shukla R, Faulkner GJ, Natoli G, Campaner S, Amati B.

Hepatology. 2017 May;65(5):1708-1719. doi: 10.1002/hep.28942. Epub 2016 Dec 30.

4.

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.

PMID:
27683195
5.

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
6.

Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?

Pasetti M, Mazzoleni F, Novelli G, Iascone M, Bozzetti A, Selicorni A.

Am J Med Genet A. 2016 Aug;170(8):2191-5. doi: 10.1002/ajmg.a.37767. Epub 2016 May 27.

PMID:
27232676
7.

Neonatal Jaundice with Splenomegaly: Not a Common Pick.

Gotti G, Marseglia A, De Giacomo C, Iascone M, Sonzogni A, D'Antiga L.

Fetal Pediatr Pathol. 2016;35(2):108-11. doi: 10.3109/15513815.2015.1130762. Epub 2016 Feb 4.

PMID:
26847548
8.

Transaortic Chordal Cutting: Mitral Valve Repair for Obstructive Hypertrophic Cardiomyopathy With Mild Septal Hypertrophy.

Ferrazzi P, Spirito P, Iacovoni A, Calabrese A, Migliorati K, Simon C, Pentiricci S, Poggio D, Grillo M, Amigoni P, Iascone M, Mortara A, Maron BJ, Senni M, Bruzzi P.

J Am Coll Cardiol. 2015 Oct 13;66(15):1687-96. doi: 10.1016/j.jacc.2015.07.069.

9.

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

Vetro A, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O.

Hum Mutat. 2015 May;36(5):562-8. doi: 10.1002/humu.22784. Epub 2015 Apr 7.

PMID:
25754594
10.

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
11.

Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition.

Xu X, Friehs I, Zhong Hu T, Melnychenko I, Tampe B, Alnour F, Iascone M, Kalluri R, Zeisberg M, Del Nido PJ, Zeisberg EM.

Circ Res. 2015 Feb 27;116(5):857-66. doi: 10.1161/CIRCRESAHA.116.305629. Epub 2015 Jan 13.

12.

Circulating cardiac biomarkers and postoperative atrial fibrillation in the OPERA trial.

Masson S, Wu JH, Simon C, Barlera S, Marchioli R, Mariani J, Macchia A, Lombardi F, Vago T, Aleksova A, Dreas L, Favaloro RR, Hershson AR, Puskas JD, Dozza L, Silletta MG, Tognoni G, Mozaffarian D, Latini R; OPERA Investigators.

Eur J Clin Invest. 2015 Feb;45(2):170-8. doi: 10.1111/eci.12393. Epub 2015 Jan 7.

13.
14.

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.

15.

Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy.

Biagini E, Olivotto I, Iascone M, Parodi MI, Girolami F, Frisso G, Autore C, Limongelli G, Cecconi M, Maron BJ, Maron MS, Rosmini S, Formisano F, Musumeci B, Cecchi F, Iacovoni A, Haas TS, Bacchi Reggiani ML, Ferrazzi P, Salvatore F, Spirito P, Rapezzi C.

Am J Cardiol. 2014 Sep 1;114(5):769-76. doi: 10.1016/j.amjcard.2014.05.065. Epub 2014 Jun 19.

PMID:
25037680
16.

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

Della Mina E, Ciccone R, Brustia F, Bayindir B, Limongelli I, Vetro A, Iascone M, Pezzoli L, Bellazzi R, Perotti G, De Giorgis V, Lunghi S, Coppola G, Orcesi S, Merli P, Savasta S, Veggiotti P, Zuffardi O.

Eur J Hum Genet. 2015 Mar;23(3):354-62. doi: 10.1038/ejhg.2014.92. Epub 2014 May 21.

17.

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
18.

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties.

Descatoire M, Weller S, Irtan S, Sarnacki S, Feuillard J, Storck S, Guiochon-Mantel A, Bouligand J, Morali A, Cohen J, Jacquemin E, Iascone M, Bole-Feysot C, Cagnard N, Weill JC, Reynaud CA.

J Exp Med. 2014 May 5;211(5):987-1000. doi: 10.1084/jem.20132203. Epub 2014 Apr 14. Erratum in: J Exp Med. 2014 May 5;21(5):1005. Sarnacki, Sabine [added].

19.

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.

20.

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.

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