Detalhe da pesquisa
1.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
2.
MicroRNA-Mediated Antiproliferative Effects of M1 Macrophage-Derived Extracellular Vesicles on Melanoma Cells.
Immunol Invest
; 53(1): 70-89, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981469
3.
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
Proc Natl Acad Sci U S A
; 118(25)2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161264
4.
Semisynthetic Sesquiterpene Lactones Generated by the Sensibility of Glaucolide B to Lewis and Brønsted-Lowry Acids and Bases: Cytotoxicity and Anti-Inflammatory Activities.
Molecules
; 28(3)2023 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36770909
5.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet
; 105(2): 302-316, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256877
6.
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Genet Med
; 23(4): 661-668, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420346
7.
Bariatric surgery improves clinical outcomes and adiposity biomarkers but not inflammatory cytokines SAA and MCP-1 after a six-month follow-up.
Scand J Clin Lab Invest
; 81(3): 230-236, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33827327
8.
In vitro cytotoxicity of co-exposure to superparamagnetic iron oxide and solid lipid nanoparticles.
Toxicol Ind Health
; 37(2): 77-89, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308053
9.
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Genet Mol Biol
; 44(2): e20200281, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999094
10.
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Genet Med
; 22(6): 1061-1068, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32099069
11.
Mechanism of action of camphoryl-benzene sulfonamide derivative on glucose uptake in adipose tissue.
J Cell Biochem
; 119(6): 4408-4419, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130561
12.
Contact lens-related polymicrobial keratitis: Acanthamoeba spp. genotype T4 and Candida albicans.
Parasitol Res
; 117(11): 3431-3436, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30094541
13.
UPLC-ESI-QTOF-MS2 characterisation of Cola nitida resin fractions with inhibitory effects on NO and TNF-α released by LPS-activated J774 macrophage and on Trypanosoma cruzi and Leishmania amazonensis.
Phytochem Anal
; 29(6): 577-589, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29808594
14.
Correspondence on "A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes" by Seaby et al.
Genet Med
; 24(12): 2591-2592, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36098740
15.
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Hum Mutat
; 36(11): 1048-51, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264460
16.
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
Cleft Palate Craniofac J
; 52(4): 411-6, 2015 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24805874
17.
Antitumoral activity of a trichloromethyl pyrimidine analogue: molecular cross-talk between intrinsic and extrinsic apoptosis.
Chem Res Toxicol
; 27(6): 1040-9, 2014 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-24848672
18.
GLP1R (glucagon-like-peptide-1 incretin receptor), diabetes and obesity phenotypes: An in silico approach revealed new pathogenic variants.
Diabetes Metab Syndr
; 18(2): 102956, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38364583
19.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
HGG Adv
; 5(3): 100287, 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553851
20.
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Eur J Pediatr
; 172(7): 927-45, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23440478