Dordoni, Chiara

Dordoni, Chiara  

Dipartimento di Specialità Medico-Chirurgiche, Scienze Radiologiche e Sanità Pubblica  

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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
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
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review. 1-gen-2014 Ritelli, Marco Giuseppe; Chiarelli, Nicola; Dordoni, Chiara; Reffo, E; Venturini, Marina; Quinzani, Stefano; Monica, M; Scarano, G; Santoro, G; Russo, M; CALZAVARA PINTON, Piergiacomo; Milanesi, O; Colombi, Marina
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
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 1-gen-2012 Ritelli, Marco Giuseppe; Venturini, Marina; Dordoni, Chiara; Chiarelli, Nicola; Zoppi, Nicoletta; Garavelli, L.; Manfredini, E.; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 1-gen-2013 Ritelli, Marco Giuseppe; Dordoni, Chiara; Venturini, Marina; Chiarelli, Nicola; Quinzani, Stefano; Traversa, Michele; Zoppi, Nicoletta; Vascellaro, Annalisa; Wischmeijer, A.; Manfredini, E.; Garavelli, L.; CALZAVARA PINTON, Piergiacomo; Colombi, Marina
Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing 1-gen-2017 Ritelli, Marco; Palit, Aparna; Giacopuzzi, Edoardo; Inamadar, Arun C.; Dordoni, Chiara; Mujja, Ajay; Murgude, Meghana S.; Colombi, Marina
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.
COL6A5 variants in familial neuropathic chronic itch 1-gen-2017 Martinelli Boneschi, Filippo; Colombi, Marina; Castori, Marco; Devigili, Grazia; Eleopra, Roberto; Malik, Rayaz A.; Ritelli, Marco Giuseppe; Zoppi, Nicoletta; Dordoni, Chiara; Sorosina, Melissa; Grammatico, Paola; Fadavi, Hassan; Gerrits, Monique M.; Almomani, Rowida; Faber, Catharina G.; Merkies, Ingemar S. J.; Toniolo, Daniela; Cocca, Massimiliano; Doglioni, Claudio; Waxman, Stephen G.; Dib Hajj, Sulayman D.; Taiana, Michela M.; Sassone, Jenny; Lombardi, Raffaella; Cazzato, Daniele; Zauli, Andrea; Santoro, Silvia; Marchi, Margherita; Lauria, Giuseppe
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 1-gen-2013 Ritelli, Marco Giuseppe; Chiarelli, Nicola; Quinzani, Stefano; Dordoni, Chiara; 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
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 1-gen-2015 Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco Giuseppe
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
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.
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 1-gen-2016 Dordoni, Chiara; Ciaccio, Claudia; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Ritelli, Marco Giuseppe; Colombi, Marina
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 1-gen-2016 Mazziotti, Gherardo; Dordoni, Chiara; Doga, M.; Galderisi, F.; Venturini, Marina; CALZAVARA PINTON, Piergiacomo; Maroldi, Roberto; Giustina, Andrea; Colombi, Marina
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
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 1-gen-2016 Ciaccio, Claudia; Dordoni, Chiara; Ritelli, Marco Giuseppe; Colombi, Marina
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.
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