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Year Number of Results
2019 3
2020 1
2021 2
2023 5
2024 3

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13 results

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Page 1
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.
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
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
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M. Carli D, et al. Among authors: gazzin a. Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18. Hum Mutat. 2019. PMID: 30825388 Free article.
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Valente FM, Sparago A, Freschi A, Hill-Harfe K, Maas SM, Frints SGM, Alders M, Pignata L, Franzese M, Angelini C, Carli D, Mussa A, Gazzin A, Gabbarini F, Acurzio B, Ferrero GB, Bliek J, Williams CA, Riccio A, Cerrato F. Valente FM, et al. Among authors: gazzin a. Genet Med. 2019 Aug;21(8):1808-1820. doi: 10.1038/s41436-018-0416-7. Epub 2019 Jan 12. Genet Med. 2019. PMID: 30635621 Free PMC article.
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.
13 results