Iascone M - Search Results

1

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. Castori M, et al. Among authors: iascone m. Am J Med Genet A. 2015 Apr;167A(4):842-51. doi: 10.1002/ajmg.a.36983. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25708316

2

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.

Aleo S, Pezzani L, Milani D, Pezzoli L, Marchisio P, Iascone M. Aleo S, et al. Among authors: iascone m. Mol Syndromol. 2023 Jan;13(6):543-550. doi: 10.1159/000524844. Epub 2022 Jun 7. Mol Syndromol. 2023. PMID: 36660030 Free PMC article.

3

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.

Giacomozzi C, Martin A, Fernández MC, Gutiérrez M, Iascone M, Domené HM, Dominici FP, Bergadá I, Cangiano B, Persani L, Pennisi PA. Giacomozzi C, et al. Among authors: iascone m. J Clin Endocrinol Metab. 2023 May 17;108(6):1355-1369. doi: 10.1210/clinem/dgac738. J Clin Endocrinol Metab. 2023. PMID: 36546343

4

Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.

Rodari G, Villa R, Porro M, Gangi S, Iascone M, Elli F, Giacchetti F, Profka E, Collini V, Dall'Antonia A, Arosio M, Mantovani G, Bedeschi MF, Giavoli C. Rodari G, et al. Among authors: iascone m. Eur J Hum Genet. 2023 Feb;31(2):195-201. doi: 10.1038/s41431-022-01220-9. Epub 2022 Nov 9. Eur J Hum Genet. 2023. PMID: 36348013 Free PMC article.

5

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

Sana ME, Iascone M, Marchetti D, Palatini J, Galasso M, Volinia S. Sana ME, et al. Among authors: iascone m. Bioinformatics. 2011 Jan 1;27(1):9-13. doi: 10.1093/bioinformatics/btq603. Epub 2010 Oct 22. Bioinformatics. 2011. PMID: 20971986

6

A new mutational mechanism for hypertrophic cardiomyopathy.

Pezzoli L, Sana ME, Ferrazzi P, Iascone M. Pezzoli L, et al. Among authors: iascone m. Gene. 2012 Oct 10;507(2):165-9. doi: 10.1016/j.gene.2012.06.097. Epub 2012 Jul 20. Gene. 2012. PMID: 22820391

7

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. Iascone M, et al. Circulation. 2012 Dec 4;126(23):2764-8. doi: 10.1161/CIRCULATIONAHA.112.119883. Circulation. 2012. PMID: 23212998 No abstract available.

8

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

Iascone M, Sana ME, Ferrazzi P. Iascone M, et al. Circ Cardiovasc Genet. 2012 Dec;5(6):e57; author reply e58. doi: 10.1161/CIRCGENETICS.112.965038. Circ Cardiovasc Genet. 2012. PMID: 23250904 No abstract available.

9

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. Sana ME, et al. Among authors: iascone m. Am J Med Genet A. 2014 Aug;164A(8):2069-73. doi: 10.1002/ajmg.a.36588. Epub 2014 Apr 29. Am J Med Genet A. 2014. PMID: 24782337 Free article.

10

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. Girolami F, et al. Among authors: iascone m. Circ Cardiovasc Genet. 2014 Dec;7(6):741-50. doi: 10.1161/CIRCGENETICS.113.000486. Epub 2014 Aug 30. Circ Cardiovasc Genet. 2014. PMID: 25173926

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

189 results

Search Page

Filters