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1.
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center.
Am J Med Genet A
; 194(2): 174-194, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37774134
2.
Coma in adult cerebral venous thrombosis: The BEAST study.
Eur J Neurol
; : e16311, 2024 Apr 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38646961
3.
Despite celiprolol therapy, patients with vascular Ehlers-Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center.
Vasc Med
; : 1358863X231215330, 2023 Dec 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38102934
4.
Genome-Wide Association Study Identifies First Locus Associated with Susceptibility to Cerebral Venous Thrombosis.
Ann Neurol
; 90(5): 777-788, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34459509
5.
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Clin Exp Rheumatol
; 40 Suppl 134(5): 46-62, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35587586
6.
Age-dependent effect of susceptibility factors on the risk of intracerebral haemorrhage: Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy).
J Neurol Neurosurg Psychiatry
; 92(10): 1068-1071, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34253639
7.
Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report.
BMC Neurol
; 21(1): 464, 2021 Nov 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-34847858
8.
Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke.
J Stroke Cerebrovasc Dis
; 30(6): 105744, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-33813081
9.
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.
Clin Genet
; 97(2): 287-295, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31600821
10.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Clin Genet
; 97(3): 396-406, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31794058
11.
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
Hum Mutat
; 40(10): 1886-1898, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31250519
12.
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.
Rheumatology (Oxford)
; 58(10): 1722-1730, 2019 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30783660
13.
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet
; 180(1): 25-34, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30471081
14.
Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Biochim Biophys Acta Mol Basis Dis
; 1864(4 Pt A): 1010-1023, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-29309923
15.
COL6A5 variants in familial neuropathic chronic itch.
Brain
; 140(3): 555-567, 2017 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28073787
16.
Multifaced Roles of the αvß3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.
Int J Mol Sci
; 19(4)2018 Mar 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-29587413
17.
Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder.
Am J Med Genet B Neuropsychiatr Genet
; 177(6): 546-556, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30070022
18.
Ehlers-Danlos syndrome, classical type.
Am J Med Genet C Semin Med Genet
; 175(1): 27-39, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28192633
19.
The 2017 international classification of the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 175(1): 8-26, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28306229
20.
GLUT10 deficiency leads to oxidative stress and non-canonical αvß3 integrin-mediated TGFß signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
Hum Mol Genet
; 24(23): 6769-87, 2015 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26376865