Busè M - Search Results

1

Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene.

Mercadante F, Piro E, Busè M, Salzano E, Ferrara A, Serra G, Passarello C, Corsello G, Piccione M. Mercadante F, et al. Among authors: buse m. Ital J Pediatr. 2022 Aug 19;48(1):152. doi: 10.1186/s13052-022-01340-4. Ital J Pediatr. 2022. PMID: 35986401 Free PMC article.

2

Meconial peritonitis in a rare association of partial ileal apple-peel atresia with small abdominal wall defect.

Insinga V, Pensabene M, Giuffrè M, Busè M, Cimador M, Corsello G, Siracusa F. Insinga V, et al. Among authors: buse m. Pediatr Med Chir. 2014 Jun 30;36(3):8. doi: 10.4081/pmc.2014.8. Pediatr Med Chir. 2014. PMID: 25573643 Free article.

3

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.

Busè M, Cuttaia HC, Palazzo D, Mazara MV, Lauricella SA, Malacarne M, Pierluigi M, Cavani S, Piccione M. Busè M, et al. Ital J Pediatr. 2017 Jul 19;43(1):61. doi: 10.1186/s13052-017-0380-x. Ital J Pediatr. 2017. PMID: 28724436 Free PMC article.

4

Inhaled nitric oxide as a rescue therapy in a preterm neonate with severe pulmonary hypertension: a case report.

Busè M, Graziano F, Lunetta F, Sulliotti G, Duca V. Busè M, et al. Ital J Pediatr. 2018 May 15;44(1):55. doi: 10.1186/s13052-018-0494-9. Ital J Pediatr. 2018. PMID: 29764471 Free PMC article.

5

Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?

Pelizzo G, Puglisi A, Lapi M, Piccione M, Matina F, Busè M, Mura GB, Re G, Calcaterra V. Pelizzo G, et al. Among authors: buse m. Case Rep Pediatr. 2018 Aug 29;2018:4060527. doi: 10.1155/2018/4060527. eCollection 2018. Case Rep Pediatr. 2018. PMID: 30245899 Free PMC article.

6

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.

Mercadante F, Busè M, Salzano E, Fragapane T, Palazzo D, Malacarne M, Piccione M. Mercadante F, et al. Among authors: buse m. Ital J Pediatr. 2020 Jul 28;46(1):108. doi: 10.1186/s13052-020-00866-9. Ital J Pediatr. 2020. PMID: 32723361 Free PMC article. Review.

7

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L. Recalcati MP, et al. Among authors: buse m. Genes (Basel). 2022 Apr 27;13(5):780. doi: 10.3390/genes13050780. Genes (Basel). 2022. PMID: 35627165 Free PMC article. Review.

8

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.

Salzano E, Niceta M, Pizzi S, Radio FC, Busè M, Mercadante F, Barresi S, Ferrara A, Mancini C, Tartaglia M, Piccione M. Salzano E, et al. Among authors: buse m. Front Neurol. 2023 Feb 7;14:1090082. doi: 10.3389/fneur.2023.1090082. eCollection 2023. Front Neurol. 2023. PMID: 36824420 Free PMC article.

9

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: buse m. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061

10

Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.

Vecchio D, Panfili FM, Macchiaiolo M, Dentici ML, Trivisano M, Medina CB, Capolino R, Salzano E, Cortellessa F, Busè M, Pantaleo A, Cocciadiferro D, Gonfiantini MV, Niceta M, De Dominicis A, Specchio N, Piccione M, Digilio MC, Tartaglia M, Novelli A, Bartuli A. Vecchio D, et al. Among authors: buse m. Eur J Med Genet. 2025 Feb;73:104990. doi: 10.1016/j.ejmg.2024.104990. Epub 2024 Dec 19. Eur J Med Genet. 2025. PMID: 39709003 Free article.

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