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153 results

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Page 1
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
Swinnen FK, Coucke PJ, De Paepe AM, Symoens S, Malfait F, Gentile FV, Sangiorgi L, D'Eufemia P, Celli M, Garretsen TJ, Cremers CW, Dhooge IJ, De Leenheer EM. Swinnen FK, et al. Among authors: celli m. Orphanet J Rare Dis. 2011 Dec 29;6:88. doi: 10.1186/1750-1172-6-88. Orphanet J Rare Dis. 2011. PMID: 22206639 Free PMC article.
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.
Storoni S, Celli L, Zhytnik L, Maasalu K, Märtson A, Kõks S, Khmyzov S, Pashenko A, Maugeri A, Zambrano A, Celli M, Eekhoff EMW, Micha D. Storoni S, et al. Among authors: celli m, celli l. Eur J Med Genet. 2023 Nov;66(11):104857. doi: 10.1016/j.ejmg.2023.104857. Epub 2023 Sep 26. Eur J Med Genet. 2023. PMID: 37758164 Free article.
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: celli m, celli l. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Cinque L, Pugliese F, Salcuni AS, Trombetta D, Battista C, Biagini T, Augello B, Nardella G, Conti F, Corbetta S, Fischetto R, Foiadelli T, Gaudio A, Giannini C, Grosso E, Guabello G, Massuras S, Palermo A, Politano L, Pigliaru F, Ruggeri RM, Scarano E, Vicchio P, Cannavò S, Celli M, Petrizzelli F, Mastroianno M, Castori M, Scillitani A, Guarnieri V. Cinque L, et al. Among authors: celli m. Front Endocrinol (Lausanne). 2023 Aug 1;14:1205977. doi: 10.3389/fendo.2023.1205977. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37600704 Free PMC article.
Impairment of diastolic function in adult patients affected by osteogenesis imperfecta clinically asymptomatic for cardiac disease: casuality or causality?
Migliaccio S, Barbaro G, Fornari R, Di Lorenzo G, Celli M, Lubrano C, Falcone S, Fabbrini E, Greco E, Zambrano A, Brama M, Prossomariti G, Marzano S, Marini M, Conti F, D'Eufemia P, Spera G. Migliaccio S, et al. Among authors: celli m. Int J Cardiol. 2009 Jan 9;131(2):200-3. doi: 10.1016/j.ijcard.2007.10.051. Epub 2008 Jan 18. Int J Cardiol. 2009. PMID: 18207586
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: celli m. Clin Cases Miner Bone Metab. 2011 May;8(2):50-1. Clin Cases Miner Bone Metab. 2011. PMID: 22461818 Free PMC article.
153 results