High prevalence of radiological vertebral fractures in adult patients with Ehlers–Danlos syndrome
Mazziotti, G, Dordoni, C, Doga, M, Galderisi, F, Venturini, M, Calzavara-Pinton, P, Maroldi, R, Giustina, A, Colombi, M
Published in Bone (New York, N.Y.) (01.03.2016)
Published in Bone (New York, N.Y.) (01.03.2016)
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Journal Article
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients
Colombi, M., Dordoni, C., Venturini, M., Ciaccio, C., Morlino, S., Chiarelli, N., Zanca, A., Calzavara‐Pinton, P., Zoppi, N., Castori, M., Ritelli, M.
Published in Clinical genetics (01.12.2017)
Published in Clinical genetics (01.12.2017)
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Journal Article
OP05.08: Role of chromosomal microarrays analysis in identifying pathogenetic variants in fetuses with single or multiple ultrasound abnormalities
Azzaretto, V., Vitucci, A., Cavalli, C., Izzi, C., Signorelli, M., Prefumo, F., Fichera, A., Dordoni, C., Zanatta, V., Grati, F., Sartori, E.
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
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Journal Article
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
Published in Balkan journal of medical genetics (29.10.2018)
Published in Balkan journal of medical genetics (29.10.2018)
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Journal Article
Compound heterozygosity of the novel −186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa
Ritelli, M., Chiarelli, N., Quinzani, S., Dordoni, C., Venturini, M., Calzavara-Pinton, P., Colombi, M.
Published in British journal of dermatology (1951) (01.04.2013)
Published in British journal of dermatology (1951) (01.04.2013)
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Journal Article
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
Ritelli, Marco, Dordoni, Chiara, Venturini, Marina, Chiarelli, Nicola, Quinzani, Stefano, Traversa, Michele, Zoppi, Nicoletta, Vascellaro, Annalisa, Wischmeijer, Anita, Manfredini, Emanuela, Garavelli, Livia, Calzavara-Pinton, Piergiacomo, Colombi, Marina
Published in Orphanet journal of rare diseases (12.04.2013)
Published in Orphanet journal of rare diseases (12.04.2013)
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Journal Article
Compound heterozygosity of the novel −186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa: Correspondence
Ritelli, M., Chiarelli, N., Quinzani, S., Dordoni, C., Venturini, M., Calzavara-Pinton, P., Colombi, M.
Published in British journal of dermatology (1951) (01.04.2013)
Published in British journal of dermatology (1951) (01.04.2013)
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Journal Article
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa
Ritelli, M, Chiarelli, N, Quinzani, S, Dordoni, C, Venturini, M, Calzavara-Pinton, P, Colombi, M
Published in The British journal of dermatology (01.04.2013)
Published in The British journal of dermatology (01.04.2013)
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