Iascone MR - Search Results

1

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.

Marchetti D, Iascone MR, Pezzoli L. Marchetti D, et al. Among authors: iascone mr. Hum Genet. 2009 Aug;126(2):347-8. Hum Genet. 2009. PMID: 19694049 No abstract available.

2

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. J Clin Endocrinol Metab. 2023 May 17;108(6):1355-1369. doi: 10.1210/clinem/dgac738. J Clin Endocrinol Metab. 2023. PMID: 36546343

3

Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.

Coccia E, Valeri L, Zuntini R, Caraffi SG, Peluso F, Pagliai L, Vezzani A, Pietrangiolillo Z, Leo F, Melli N, Fiorini V, Greco A, Lepri FR, Pisaneschi E, Marozza A, Carli D, Mussa A, Radio FC, Conti B, Iascone M, Gargano G, Novelli A, Tartaglia M, Zuffardi O, Bedeschi MF, Garavelli L. Coccia E, et al. Genes (Basel). 2023 Feb 22;14(3):549. doi: 10.3390/genes14030549. Genes (Basel). 2023. PMID: 36980822 Free PMC article.

4

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.

Crotti L, Spazzolini C, Nyegaard M, Overgaard MT, Kotta MC, Dagradi F, Sala L, Aiba T, Ayers MD, Baban A, Barc J, Beach CM, Behr ER, Bos JM, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge SP, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen HK, Kannankeril PJ, Kaski JP, Makita N, Muñoz-Esparza C, Odland HH, Ohno S, Papagiannis J, Porretta AP, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert KE, Vinocur JM, Webster G, Wilde AAM, Wolf CM, Ackerman MJ, Schwartz PJ. Crotti L, et al. Eur Heart J. 2023 Sep 14;44(35):3357-3370. doi: 10.1093/eurheartj/ehad418. Eur Heart J. 2023. PMID: 37528649 Free PMC article.

5

Gene symbol: MYH7.

Iascone MR, Marchetti D, Ferrazzi P. Iascone MR, et al. Hum Genet. 2007 Feb;120(6):915. Hum Genet. 2007. PMID: 17438618 No abstract available.

6

Gene symbol: MYH7.

Iascone MR, Marchetti D, Ferrazzi P. Iascone MR, et al. Hum Genet. 2007 Feb;120(6):916. Hum Genet. 2007. PMID: 17438619 No abstract available.

7

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.

Marchetti D, Iascone MR, Pezzoli L. Marchetti D, et al. Among authors: iascone mr. Hum Genet. 2009 Aug;126(2):344. Hum Genet. 2009. PMID: 19694036 No abstract available.

8

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.

Marchetti D, Iascone MR, Pezzoli L. Marchetti D, et al. Among authors: iascone mr. Hum Genet. 2009 Aug;126(2):344-5. Hum Genet. 2009. PMID: 19694039 No abstract available.

9

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.

Marchetti D, Iascone MR, Pezzoli L. Marchetti D, et al. Among authors: iascone mr. Hum Genet. 2009 Aug;126(2):345. Hum Genet. 2009. PMID: 19694043 No abstract available.

10

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.

Marchetti D, Iascone MR, Pezzoli L. Marchetti D, et al. Among authors: iascone mr. Hum Genet. 2009 Aug;126(2):345-6. Hum Genet. 2009. PMID: 19694044 No abstract available.

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