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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.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.
Bioinformatics
; 34(17): 3038-3040, 2018 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29668842
10.
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
11.
COL6A5 variants in familial neuropathic chronic itch.
Brain
; 140(3): 555-567, 2017 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28073787
12.
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
13.
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
14.
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
Am J Med Genet A
; 173(2): 524-530, 2017 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-28102596
15.
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.
Am J Med Genet A
; 173(1): 200-206, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27615407
16.
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
Am J Med Genet A
; 173(1): 169-176, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27739212
17.
Arterial tortuosity in patients with spontaneous cervical artery dissection.
Neuroradiology
; 59(6): 571-575, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-28497262
18.
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
Int J Mol Sci
; 18(8)2017 Aug 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-28829359
19.
Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment.
J Dtsch Dermatol Ges
; 20(8): 1133-1136, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35698861
20.
Phacomatosis pigmentovascularis spilorosea mit Mutation im PTPN11 Gen: neuer Fall mit erheblichen neurologischen Beeinträchtigungen.
J Dtsch Dermatol Ges
; 20(8): 1133-1136, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35971585