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Silvia Morlino
Silvia Morlino
Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo
在 operapadrepio.it 的电子邮件经过验证
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引用次数
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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
2022012
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
1772013
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
1112012
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
982015
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
912015
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
892014
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
482019
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
462017
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
432015
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
382020
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
302017
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
272017
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
262017
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
252017
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
222018
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
222014
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
212019
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
212018
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
212018
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
202019
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