Detalhe da pesquisa
1.
Reduced Capsaicin-Induced Mechanical Allodynia and Neuronal Responses in the DRG in the Presence of Ptpn6 Overexpression.
Mol Pain
; : 17448069241258106, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38752471
2.
Microvascular status and skin thickness in adults with hypermobile Ehlers-Danlos syndrome: a pilot investigation.
Clin Exp Rheumatol
; 42(3): 682-688, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37976114
3.
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
PLoS Genet
; 17(2): e1009339, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33524049
4.
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.
Hum Genet
; 142(3): 457-476, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36697720
5.
Somatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disorders.
Am J Med Genet A
; 191(7): 1792-1803, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186039
6.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815299
7.
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
8.
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes.
Am J Physiol Cell Physiol
; 323(6): C1843-C1859, 2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35993517
9.
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
10.
The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.
Clin Exp Rheumatol
; 40 Suppl 134(5): 3-11, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35349419
11.
Muscle Strength, Muscle Mass and Physical Impairment in Women with hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorder.
J Musculoskelet Neuronal Interact
; 22(1): 5-14, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35234154
12.
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
13.
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
Hum Mutat
; 42(6): 711-730, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33739556
14.
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
15.
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.
Hum Mol Genet
; 28(11): 1853-1864, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668708
16.
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.
Hum Mol Genet
; 28(11): 1801-1809, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30657919
17.
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.
Genet Med
; 23(12): 2378-2385, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272483
18.
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.
Proc Natl Acad Sci U S A
; 115(34): E8037-E8046, 2018 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30082390
19.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Hum Mol Genet
; 27(20): 3475-3487, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29931299
20.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 100(2): 216-227, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065471