Detalles de la búsqueda
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.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma.
Lab Invest
; 95(6): 585-602, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25822667
9.
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Am J Med Genet C Semin Med Genet
; 169C(1): 6-22, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25821090
10.
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
Am J Med Genet C Semin Med Genet
; 169C(1): 43-53, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25655071
11.
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
BMC Med Genet
; 15: 91, 2014 Aug 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-25163805
12.
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.
BMC Med Genet
; 15: 3, 2014 Jan 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-24397858
13.
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
BMC Med Genet
; 15: 122, 2014 Nov 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-25373504
14.
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.
Am J Med Genet A
; 164A(12): 3010-20, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25338840
15.
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type.
Am J Med Genet A
; 161A(5): 1143-7, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23533212
16.
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
Am J Med Genet A
; 158A(5): 1164-9, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22488877
17.
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms.
Cells
; 11(24)2022 12 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36552803
18.
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts.
Biochim Biophys Acta Mol Basis Dis
; 1867(4): 166051, 2021 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33383104
19.
Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target?
Cells
; 10(11)2021 11 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-34831458
20.
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.
Orphanet J Rare Dis
; 15(1): 197, 2020 07 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-32736638