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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: lodato v. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Ebstein's anomaly in a child with osteogenesis imperfecta type I.
D'Eufemia P, Celli M, Versacci P, Zambrano A, Lodato V, Persiani P, Sangiorgi L. D'Eufemia P, et al. Among authors: lodato v. Clin Cases Miner Bone Metab. 2011 May;8(2):50-1. Clin Cases Miner Bone Metab. 2011. PMID: 22461818 Free PMC article.
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Di Giosaffatte N, Ferraris A, Gaudioso F, Lodato V, Savino E, Celletti C, Camerota F, Bargiacchi S, Laino L, Majore S, Bottillo I, Grammatico P. Di Giosaffatte N, et al. Among authors: lodato v. Genes (Basel). 2022 Dec 14;13(12):2358. doi: 10.3390/genes13122358. Genes (Basel). 2022. PMID: 36553625 Free PMC article.
Serum creatine kinase isoenzymes in children with osteogenesis imperfecta.
D'Eufemia P, Finocchiaro R, Zambrano A, Lodato V, Celli L, Finocchiaro S, Persiani P, Turchetti A, Celli M. D'Eufemia P, et al. Among authors: lodato v. Osteoporos Int. 2017 Jan;28(1):339-346. doi: 10.1007/s00198-016-3729-x. Epub 2016 Aug 25. Osteoporos Int. 2017. PMID: 27562566 Clinical Trial.
Fetal Rhabdomyoma of the Larynx in an Adult.
Fusconi M, Zaccarelli F, Casini B, Gallo E, Covello R, Lodato V, Riminucci M, Corsi A. Fusconi M, et al. Among authors: lodato v. Ear Nose Throat J. 2024 Apr 9:1455613241245208. doi: 10.1177/01455613241245208. Online ahead of print. Ear Nose Throat J. 2024. PMID: 38591789 Free article. No abstract available.
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.
Baban A, Alesi V, Magliozzi M, Parlapiano G, Genovese S, Cicenia M, Loddo S, Lodato V, Di Chiara L, Fattori F, D'Amico A, Francalanci P, Amodeo A, Novelli A, Drago F. Baban A, et al. Among authors: lodato v. J Cardiovasc Dev Dis. 2022 Sep 30;9(10):332. doi: 10.3390/jcdd9100332. J Cardiovasc Dev Dis. 2022. PMID: 36286284 Free PMC article.
18 results