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Page 1
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: gazzin a. Eur J Hum Genet. 2024 Aug;32(8):954-963. doi: 10.1038/s41431-024-01642-7. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824261
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.
Gazzin A, Fornari F, Niceta M, Leoni C, Dentici ML, Carli D, Villar AM, Calcagni G, Banaudi E, Massuras S, Cardaropoli S, Airulo E, Daniele P, Monda E, Limongelli G, Riggi C, Zampino G, Digilio MC, De Luca A, Tartaglia M, Ferrero GB, Mussa A. Gazzin A, et al. Eur J Hum Genet. 2024 Aug;32(8):964-971. doi: 10.1038/s41431-024-01643-6. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824260
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.
Gazzin A, Leoni C, Viscogliosi G, Borgini F, Perri L, Iacoviello M, Piglionica M, De Pellegrin M, Ferrero GB, Bartuli A, Zampino G, Buonuomo PS, Resta N, Mussa A; Italian Macrodactyly and PROS Association. Gazzin A, et al. Genes (Basel). 2023 Nov 27;14(12):2134. doi: 10.3390/genes14122134. Genes (Basel). 2023. PMID: 38136956 Free PMC article.
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).
Reynolds G, Cardaropoli S, Carli D, Luca M, Gazzin A, Coppo P, La Selva R, Piglionica M, Bagnulo R, Turchiano A, Ranieri C, Resta N, Mussa A. Reynolds G, et al. Among authors: gazzin a. Eur J Hum Genet. 2023 Nov;31(11):1333-1336. doi: 10.1038/s41431-023-01414-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365400 Free PMC article.
Adult experiences in Beckwith-Wiedemann syndrome.
Drust WA, Mussa A, Gazzin A, Lapunzina P, Tenorio-Castaño J, Nevado J, Pascual P, Arias P, Parra A, Getz KD, Kalish JM. Drust WA, et al. Among authors: gazzin a. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):116-127. doi: 10.1002/ajmg.c.32046. Epub 2023 May 10. Am J Med Genet C Semin Med Genet. 2023. PMID: 37163416
Granulomatous inflammation in inborn errors of immunity.
Sacco KA, Gazzin A, Notarangelo LD, Delmonte OM. Sacco KA, et al. Among authors: gazzin a. Front Pediatr. 2023 Feb 20;11:1110115. doi: 10.3389/fped.2023.1110115. eCollection 2023. Front Pediatr. 2023. PMID: 36891233 Free PMC article. Review.
Intestinal ultrasonography in pediatric population.
Opramolla A, Gazzin A, Cisarò F, Pinon M, Calvo P, Rigazio C. Opramolla A, et al. Among authors: gazzin a. Minerva Pediatr (Torino). 2024 Feb;76(1):100-107. doi: 10.23736/S2724-5276.21.06371-0. Epub 2021 Apr 19. Minerva Pediatr (Torino). 2024. PMID: 33871250
15 results