Detalhe da pesquisa
1.
Blockage of aquaporin-3 peroxiporin activity by organogold compounds affects melanoma cell adhesion, proliferation and migration.
J Physiol;
2024 Feb 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38323926
2.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Am J Hum Genet;
106(6): 779-792, 2020 06 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32413283
3.
Transatlantic progress in measurement of cognitive outcomes in paediatric oncology trials.
Pediatr Blood Cancer;
70(5): e30171, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36734371
4.
Assessment of Lab4P Probiotic Effects on Cognition in 3xTg-AD Alzheimer's Disease Model Mice and the SH-SY5Y Neuronal Cell Line.
Int J Mol Sci;
24(5)2023 Feb 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36902113
5.
Bottom-up Synthesis of Water-Soluble Gold Nanoparticles Stabilized by N-Heterocyclic Carbenes: From Structural Characterization to Applications.
Chemistry;
28(56): e202201575, 2022 Oct 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35801389
6.
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.
Hum Mol Genet;
28(6): 877-887, 2019 03 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30445565
7.
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
Clin Genet;
100(4): 462-467, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34212369
8.
C-C Cross-Couplings from a Cyclometalated Au(III) C ⧠N Complex: Mechanistic Insights and Synthetic Developments.
Chemistry;
27(57): 14322-14334, 2021 Oct 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34310783
9.
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Hum Mol Genet;
27(15): 2689-2702, 2018 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29771326
10.
Exploring the Chemoselectivity towards Cysteine Arylation by Cyclometallated AuIII Compounds: New Mechanistic Insights.
Chembiochem;
21(21): 3071-3076, 2020 11 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32511840
11.
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clin Genet;
98(3): 261-273, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32621347
12.
Carbon-Phosphorus Coupling from C
Chemistry;
26(19): 4226-4231, 2020 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31994237
13.
Cilia in hereditary cerebral anomalies.
Biol Cell;
111(9): 217-231, 2019 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31177551
14.
Cyclometalated AuIII Complexes for Cysteine Arylation in Zinc Finger Protein Domains: towards Controlled Reductive Elimination.
Chemistry;
25(32): 7628-7634, 2019 Jun 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30990916
15.
Insights into the Mechanisms of Aquaporin-3 Inhibition by Gold(III) Complexes: the Importance of Non-Coordinative Adduct Formation.
Inorg Chem;
58(3): 2140-2148, 2019 Feb 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30645101
16.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS Genet;
12(3): e1005894, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26967905
17.
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Am J Hum Genet;
97(2): 311-8, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26166481
18.
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
Am J Med Genet A;
176(7): 1610-1613, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29704304
19.
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Am J Med Genet A;
176(5): 1091-1098, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29681083
20.
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Brain;
140(10): 2597-2609, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28969387