Lepri F - Search Results

1

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Tartaglia M, et al. Among authors: lepri f. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Nat Genet. 2007. PMID: 17143282

2

Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2.

Guadagnolo D, Mastromoro G, Hashemian NK, Orlando V, Lepri FR, D'Alberti E, Giancotti A, Novelli A, Pizzuti A. Guadagnolo D, et al. J Obstet Gynaecol Can. 2023 Aug;45(8):558-559. doi: 10.1016/j.jogc.2023.05.004. Epub 2023 May 17. J Obstet Gynaecol Can. 2023. PMID: 37201580 No abstract available.

3

The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.

Pietrobattista A, Della Volpe L, Francalanci P, Figà Talamanca L, Monti L, Lepri FR, Basso MS, Liccardo D, Della Corte C, Mosca A, Alterio T, Veraldi S, Callea F, Novelli A, Maggiore G. Pietrobattista A, et al. Among authors: lepri fr. Genes (Basel). 2023 Mar 17;14(3):739. doi: 10.3390/genes14030739. Genes (Basel). 2023. PMID: 36981010 Free PMC article. Review.

4

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

Siri B, Olivieri G, Lepri FR, Poms M, Goffredo BM, Commone A, Novelli A, Häberle J, Dionisi-Vici C. Siri B, et al. Among authors: lepri fr. Orphanet J Rare Dis. 2024 Jan 2;19(1):3. doi: 10.1186/s13023-023-02997-8. Orphanet J Rare Dis. 2024. PMID: 38167094 Free PMC article.

5

Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.

Ventresca S, Lepri FR, Criscuolo S, Bottaro G, Novelli A, Loche S, Cappa M. Ventresca S, et al. Among authors: lepri fr. Front Endocrinol (Lausanne). 2024 Mar 26;15:1364234. doi: 10.3389/fendo.2024.1364234. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38596219 Free PMC article.

6

Hyperthrophic cardiomyopathy and the PTPN11 gene.

Sarkozy A, Conti E, Lepri FR, Pizzuti A, Dallapiccola B, Autore C, Tartaglia M. Sarkozy A, et al. Am J Med Genet A. 2005 Jul 1;136(1):93-4. doi: 10.1002/ajmg.a.30773. Am J Med Genet A. 2005. PMID: 15937948 No abstract available.

7

Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect.

Sarkozy A, Lepri F, Marino B, Pizzuti A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Among authors: lepri f. Am J Med Genet A. 2006 Sep 15;140(18):1970-2. doi: 10.1002/ajmg.a.31394. Am J Med Genet A. 2006. PMID: 16892325 No abstract available.

8

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes.

Sarkozy A, Schirinzi A, Lepri F, Bottillo I, De Luca A, Pizzuti A, Tartaglia M, Digilio MC, Dallapiccola B. Sarkozy A, et al. Among authors: lepri f. Am J Med Genet A. 2007 May 1;143A(9):1009-11. doi: 10.1002/ajmg.a.31666. Am J Med Genet A. 2007. PMID: 17366582 No abstract available.

9

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Pandit B, et al. Among authors: lepri f. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603483

10

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B. Dentici ML, et al. Among authors: lepri f. Eur J Hum Genet. 2009 Jun;17(6):733-40. doi: 10.1038/ejhg.2008.256. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156172 Free PMC article.

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

99 results

Search Page

Filters