| Management of pain and fatigue in the joint hypermobility syndrome (aka Ehlers–Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach M Castori, S Morlino, C Celletti, M Celli, A Morrone, M Colombi, ... American Journal of Medical Genetics Part A 158 (8), 2055-2070, 2012 | 197 | 2012 |
| Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. CF Castori M, Morlino S, Celletti C, Ghibellini G American Journal Medical Genetics A, 2013 | 174 | 2013 |
| Gynecologic and obstetric implications of the joint hypermobility syndrome (aka Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients M Castori, S Morlino, C Dordoni, C Celletti, F Camerota, M Ritelli, ... American Journal of Medical Genetics Part A 158 (9), 2176-2182, 2012 | 107 | 2012 |
| Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type M Castori, S Morlino, G Pascolini, C Blundo, P Grammatico American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2015 | 96 | 2015 |
| Connective tissue, Ehlers–Danlos syndrome (s), and head and cervical pain M Castori, S Morlino, G Ghibellini, C Celletti, F Camerota, P Grammatico American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2015 | 90 | 2015 |
| Nosology and inheritance pattern (s) of joint hypermobility syndrome and Ehlers‐Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in … M Castori, C Dordoni, M Valiante, I Sperduti, M Ritelli, S Morlino, ... American Journal of Medical Genetics Part A 164 (12), 3010-3020, 2014 | 89 | 2014 |
| Severity classes in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorders: A pilot study of 105 Italian patients M Copetti, S Morlino, M Colombi, P Grammatico, A Fontana, M Castori Rheumatology 58 (10), 1722-1730, 2019 | 47 | 2019 |
| Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers‐Danlos syndrome, hypermobility type M Castori, C Dordoni, S Morlino, I Sperduti, M Ritelli, M Valiante, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2015 | 44 | 2015 |
| Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia L Travaglini, M Nardella, E Bellacchio, A D'Amico, A Capuano, ... European Journal of Paediatric Neurology 21 (3), 450-456, 2017 | 43 | 2017 |
| COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap S Morlino, L Micale, M Ritelli, M Rohrbach, N Zoppi, A Vandersteen, ... Clinical genetics 97 (3), 396-406, 2020 | 35 | 2020 |
| Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients M Colombi, C Dordoni, M Venturini, C Ciaccio, S Morlino, N Chiarelli, ... Clinical Genetics 92 (6), 624-631, 2017 | 30 | 2017 |
| Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type S Morlino, C Dordoni, I Sperduti, M Venturini, C Celletti, F Camerota, ... American Journal of Medical Genetics Part A 173 (4), 914-929, 2017 | 27 | 2017 |
| Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non‐syndromic microtia and distinctive ear morphology F Piceci, S Morlino, M Castori, E Buffone, A De Luca, P Grammatico, ... Clinical genetics 91 (5), 774-779, 2017 | 24 | 2017 |
| Posterior column ataxia with retinitis pigmentosa coexisting with sensory‐autonomic neuropathy and leukemia due to the homozygous p. Pro221Ser FLVCR1 mutation M Castori, S Morlino, M Ungelenk, D Pareyson, E Salsano, P Grammatico, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 174 …, 2017 | 23 | 2017 |
| A 22-week-old fetus with Nager syndrome and congenital diaphragmatic hernia due to a novel SF3B4 mutation M Castori, I Bottillo, D D'angelantonio, S Morlino, C De Bernardo, ... Molecular Syndromology 5 (5), 241-244, 2014 | 22 | 2014 |
| Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination … C Piedimonte, R Penge, S Morlino, I Sperduti, A Terzani, MT Giannini, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 …, 2018 | 21 | 2018 |
| A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations M Ritelli, S Morlino, E Giacopuzzi, L Bernardini, B Torres, G Santoro, ... Clinical Genetics 93 (1), 126-133, 2018 | 21 | 2018 |
| Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders C Fusco, S Morlino, L Micale, A Ferraris, P Grammatico, M Castori Genes 10 (6), 442, 2019 | 20 | 2019 |
| A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder S Morlino, M Castori, C Dordoni, V Cinquina, G Santoro, P Grammatico, ... European Journal of Human Genetics 26 (4), 582-586, 2018 | 20 | 2018 |
| Cardiac valvular Ehlers‐Danlos syndrome is a well‐defined condition due to recessive null variants in COL1A2 V Guarnieri, S Morlino, G Di Stolfo, S Mastroianno, T Mazza, M Castori American Journal of Medical Genetics Part A 179 (5), 846-851, 2019 | 19 | 2019 |
