Detalhe da pesquisa
1.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am J Hum Genet
; 109(12): 2230-2252, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351433
2.
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
3.
Association of antenatal evaluations with postmortem and genetic findings in the series of fetal osteogenesis imperfecta.
Fetal Diagn Ther
; 2024 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38346409
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.
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Acta Neuropathol
; 145(6): 793-814, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37000196
6.
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
7.
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
8.
Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI.
J Assist Reprod Genet
; 39(3): 609-618, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064435
9.
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
10.
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
11.
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
12.
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
13.
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
14.
Digital Polymerase Chain Reaction for Assessment of Mutant Mitochondrial Carry-over after Nuclear Transfer for In Vitro Fertilization.
Clin Chem
; 67(7): 968-976, 2021 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33822904
15.
Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.
Clin Genet
; 99(1): 53-66, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058140
16.
Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Clin Genet
; 100(4): 447-452, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155636
17.
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
18.
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
19.
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
20.
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.
Genet Med
; 22(1): 112-123, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273343