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Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen.
Venturi G, Gandini A, Monti E, Dalle Carbonare L, Corradi M, Vincenzi M, Valenti MT, Valli M, Pelilli E, Boner A, Mottes M, Antoniazzi F. Venturi G, et al. Among authors: valli m. J Bone Miner Res. 2012 Mar;27(3):723-8. doi: 10.1002/jbmr.1480. J Bone Miner Res. 2012. PMID: 22113968 Free article.
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L. Caraffi SG, et al. Among authors: valli m. Genes (Basel). 2019 Oct 12;10(10):799. doi: 10.3390/genes10100799. Genes (Basel). 2019. PMID: 31614862 Free PMC article.
A rare cause of recurrent spontaneous pneumothorax.
Savasta S, Leoni MC, Strocchio L, Pizzo D, Spartà MV, Lima M, Valli M, Marchi A. Savasta S, et al. Among authors: valli m. Clin Pediatr (Phila). 2011 May;50(5):456-8. doi: 10.1177/0009922810385571. Clin Pediatr (Phila). 2011. PMID: 21525091 No abstract available.
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, Nicolazzi MA, Musumeci A, Penco S, Buscemi L, Crivelli S, Danesino C, Clementi M, Calzavara-Pinton P, Viglio S, Valli M, Barlati S, Colombi M. Drera B, et al. Among authors: valli m. J Dermatol Sci. 2011 Dec;64(3):237-40. doi: 10.1016/j.jdermsci.2011.09.002. Epub 2011 Sep 24. J Dermatol Sci. 2011. PMID: 22019127 No abstract available.
410 results