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Clinical Significance of the Cystic Phenotype in Alport Syndrome.
Zeni L, Mescia F, Toso D, Dordoni C, Mazza C, Savoldi G, Econimo L, Cortinovis R, Fisogni S, Alberici F, Scolari F, Izzi C. Zeni L, et al. Among authors: dordoni c. Am J Kidney Dis. 2024 Mar 19:S0272-6386(24)00681-4. doi: 10.1053/j.ajkd.2024.02.005. Online ahead of print. Am J Kidney Dis. 2024. PMID: 38514012 Free article.
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Lecca M, Bedeschi MF, Izzi C, Dordoni C, Rinaldi B, Peluso F, Caraffi SG, Prefumo F, Signorelli M, Zanzucchi M, Bione S, Ghigna C, Sassi S, Novelli A, Valente EM, Superti-Furga A, Garavelli L, Errichiello E. Lecca M, et al. Among authors: dordoni c. Clin Genet. 2023 Aug;104(2):230-237. doi: 10.1111/cge.14336. Epub 2023 Apr 10. Clin Genet. 2023. PMID: 37038048
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype.
Izzi C, Dordoni C, Delbarba E, Mazza C, Savoldi G, Econimo L, Cortinovis R, Zeni L, Martin E, Alberici F, Scolari F. Izzi C, et al. Among authors: dordoni c. Kidney Int Rep. 2022 Jan 8;7(4):895-898. doi: 10.1016/j.ekir.2021.12.027. eCollection 2022 Apr. Kidney Int Rep. 2022. PMID: 35497784 Free PMC article. No abstract available.
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.
Morlino S, Dordoni C, Sperduti I, Clark CJ, Piedimonte C, Fontana A, Colombi M, Grammatico P, Copetti M, Castori M. Morlino S, et al. Among authors: dordoni c. Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):25-34. doi: 10.1002/ajmg.b.32698. Epub 2018 Nov 23. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 30471081
Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.
Kocova M, Kacarska R, Kuzevska-Maneva K, Prijic S, Lazareska M, Dordoni C, Ritelli M, Colombi M. Kocova M, et al. Among authors: dordoni c. Balkan J Med Genet. 2018 Oct 29;21(1):47-52. doi: 10.2478/bjmg-2018-0009. eCollection 2018 Jun. Balkan J Med Genet. 2018. PMID: 30425910 Free PMC article.
35 results