Detalhe da pesquisa
1.
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
Hum Mutat
; 43(12): 1994-2009, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054293
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35587586
3.
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.
Hum Mutat
; 42(10): 1294-1306, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265140
4.
Pain in the Ehlers-Danlos syndromes: Mechanisms, models, and challenges.
Am J Med Genet C Semin Med Genet
; 187(4): 429-445, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797601
5.
Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation.
medRxiv
; 2023 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865307
6.
Sensory Profiling in Classical Ehlers-Danlos Syndrome: A Case-Control Study Revealing Pain Characteristics, Somatosensory Changes, and Impaired Pain Modulation.
J Pain
; 24(11): 2063-2078, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37380025
7.
The Ehlers-Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism.
Genes (Basel)
; 13(2)2022 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205310
8.
Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome: A case-control study.
Eur J Pain
; 26(6): 1355-1367, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35442549
9.
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.
Orphanet J Rare Dis
; 14(1): 138, 2019 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31196143