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Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant.
Calamaio S, Serzanti M, Morlino S, Massardi M, Ritelli M, Piovani G, Colombi M, Cortellini V, Castori M, Dell'Era P, Micale L. Calamaio S, et al. Among authors: morlino s. Stem Cell Res. 2022 Aug;63:102837. doi: 10.1016/j.scr.2022.102837. Epub 2022 Jun 8. Stem Cell Res. 2022. PMID: 35700636 Free article.
The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation.
Castori M, Morlino S, Radio FC, De Bernardo C, Grammatico P. Castori M, et al. Among authors: morlino s. Am J Med Genet A. 2013 Oct;161A(10):2675-7. doi: 10.1002/ajmg.a.36131. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038754 No abstract available.
An additional patient with 3q27.3 microdeletion syndrome.
Castori M, Bottillo I, Laino L, Morlino S, Grammatico B, Grammatico P. Castori M, et al. Among authors: morlino s. J Child Neurol. 2015 Mar;30(4):500-4. doi: 10.1177/0883073814539557. Epub 2014 Jul 17. J Child Neurol. 2015. PMID: 25038125
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigrees.
Castori M, Dordoni C, Valiante M, Sperduti I, Ritelli M, Morlino S, Chiarelli N, Celletti C, Venturini M, Camerota F, Calzavara-Pinton P, Grammatico P, Colombi M. Castori M, et al. Among authors: morlino s. Am J Med Genet A. 2014 Dec;164A(12):3010-20. doi: 10.1002/ajmg.a.36805. Epub 2014 Oct 22. Am J Med Genet A. 2014. PMID: 25338840
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
Castori M, Dordoni C, Morlino S, Sperduti I, Ritelli M, Valiante M, Chiarelli N, Zanca A, Celletti C, Venturini M, Camerota F, Calzavara-Pinton P, Grammatico P, Colombi M. Castori M, et al. Among authors: morlino s. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):43-53. doi: 10.1002/ajmg.c.31425. Epub 2015 Feb 5. Am J Med Genet C Semin Med Genet. 2015. PMID: 25655071
67 results