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Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 1-gen-2017 Dordoni, Chiara; Ciaccio, Claudia; Santoro, Graziano; Venturini, Marina; Cavallari, Ugo; Ritelli, Marco Giuseppe; Colombi, Marina
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 1-gen-2017 Ritelli, Marco; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Colombi, Marina
Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review 1-gen-2017 Colombi, Marina; Dordoni, Chiara; Venturini, Marina; Zanca, Arianna; CALZAVARA PINTON, Piergiacomo; Ritelli, Marco Giuseppe
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 1-gen-2018 Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 1-gen-2018 Dordoni, Chiara; Gatti, Marta; Venturini, Marina; Zanca, Arianna; Cinquina, Valeria; Santoro, Graziano; Battocchio, Simonetta; Calzavara-Pinton, Piergiacomo; Ritelli, Marco; Colombi, Marina
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 1-gen-2018 Morlino, Silvia; Castori, Marco; Dordoni, Chiara; Cinquina, Valeria; Santoro, Graziano; Grammatico, Paola; Venturini, Marina; Colombi, Marina; Ritelli, Marco
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 1-gen-2018 Kocova, M.; Kacarska, R.; Kuzevska-Maneva, K.; Prijic, S.; Lazareska, M.; Dordoni, C.; Ritelli, M.; Colombi, M.
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 1-gen-2019 Morlino, Silvia; Dordoni, Chiara; Sperduti, Isabella; Clark, Carol J.; Piedimonte, Caterina; Fontana, Andrea; Colombi, Marina; Grammatico, Paola; Copetti, Massimiliano; Castori, Marco
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 1-gen-2019 Dordoni, C.; Prefumo, F.; Iascone, M.; Pinelli, L.; Palumbo, G.; Bondioni, M. P.; Savoldi, G.; Donzelli, C.; Sartori, E.; Valente, E. M.; Izzi, C.
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 1-gen-2021 Delbarba, E.; Econimo, L.; Dordoni, C.; Martin, E.; Mazza, C.; Savoldi, G.; Alberici, F.; Scolari, F.; Izzi, C.
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 1-gen-2022 Izzi, C.; Dordoni, C.; Delbarba, E.; Mazza, C.; Savoldi, G.; Econimo, L.; Cortinovis, R.; Zeni, L.; Martin, E.; Alberici, F.; Scolari, F.
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 1-gen-2023 Lecca, Mauro; Bedeschi, Maria Francesca; Izzi, Claudia; Dordoni, Chiara; Rinaldi, Berardo; Peluso, Francesca; Caraffi, Stefano Giuseppe; Prefumo, Federico; Signorelli, Marino; Zanzucchi, Matteo; Bione, Silvia; Ghigna, Claudia; Sassi, Silvia; Novelli, Antonio; Valente, Enza Maria; Superti-Furga, Andrea; Garavelli, Livia; Errichiello, Edoardo
Mostrati risultati da 21 a 32 di 32
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