Detalhe da pesquisa
1.
Inhibition of ribosome biogenesis by actinomycin D affects Arabidopsis root development.
Biochem Biophys Res Commun;
588: 61-67, 2022 01 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34952471
2.
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
J Med Genet;
58(1): 41-47, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32381727
3.
Fumonisin B1 as a Tool to Explore Sphingolipid Roles in Arabidopsis Primary Root Development.
Int J Mol Sci;
23(21)2022 Oct 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36361715
4.
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.
Hum Mol Genet;
28(4): 539-547, 2019 02 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30307510
5.
Disease activity in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: the utility of the SPARCC MRI scoring system for assessment of axial spine involvement.
Clin Exp Rheumatol;
39(6): 1291-1297, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33427614
6.
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Hum Mutat;
41(1): 182-195, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31471994
7.
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.
Kidney Int;
98(4): 1020-1030, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32450157
8.
Identification of novel FBN1 variations implicated in congenital scoliosis.
J Hum Genet;
65(3): 221-230, 2020 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31827250
9.
Serum IgG4 elevation in SAPHO syndrome: does it unmask a disease activity marker?
Clin Exp Rheumatol;
38(1): 35-41, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31025928
10.
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Genet Med;
21(7): 1548-1558, 2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30636772
11.
Three patterns of osteoarticular involvement in SAPHO syndrome: a cluster analysis based on whole body bone scintigraphy of 157 patients.
Rheumatology (Oxford);
58(6): 1047-1055, 2019 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30624750
12.
Efficacy of bisphosphonates in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: a prospective open study.
Clin Exp Rheumatol;
37(4): 663-669, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30767869
13.
Arabidopsis COG Complex Subunits COG3 and COG8 Modulate Golgi Morphology, Vesicle Trafficking Homeostasis and Are Essential for Pollen Tube Growth.
PLoS Genet;
12(7): e1006140, 2016 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27448097
14.
Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism.
J Cell Mol Med;
22(1): 533-545, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28944995
15.
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Hum Genet;
137(6-7): 553-567, 2018 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30019117
16.
Arabidopsis EXO70A1 recruits Patellin3 to the cell membrane independent of its role as an exocyst subunit.
J Integr Plant Biol;
59(12): 851-865, 2017 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28815958
17.
WeChat App in the follow up of thyroid cancer patients after thyroidectomy during the COVID-19 pandemic.
Br J Surg;
107(11): e533, 2020 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32871024
18.
A single cohort, open-label study of the efficacy of pamidronate for palmoplantar pustulosis in synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome.
Clin Exp Rheumatol;
38(6): 1263-1264, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32573425
19.
Quadruple valve replacement for patient with infective endocarditis 16 years after Fallot's Tetralogy Repair procedure: A case report.
Heliyon;
10(1): e23351, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38192818
20.
Functional annotation and enrichment analysis of differentially expressed serum proteins in patients with type 2 diabetes after dapagliflozin.
World J Diabetes;
13(3): 224-239, 2022 Mar 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35432754