Detalhe da pesquisa
1.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
2.
Potentiation and allosteric agonist activation of α7 nicotinic acetylcholine receptors: binding sites and hypotheses.
Pharmacol Res
; 191: 106759, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37023990
3.
Misdiagnosis of capillary malformations in darker skin phototypes.
Pediatr Dermatol
; 38 Suppl 2: 137-139, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34585435
4.
Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?
Genet Med
; 21(2): 459-463, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29872110
5.
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Hum Genet
; 137(5): 375-388, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740699
6.
Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.
Int Ophthalmol
; 38(6): 2677-2682, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29058245
7.
Synthesis and Antagonist Activity of Methyllycaconitine Analogues on Human α7 Nicotinic Acetylcholine Receptors.
ACS Bio Med Chem Au
; 3(2): 147-157, 2023 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37096031
8.
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
JCI Insight
; 8(9)2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154160
9.
Stoichiometry-Selective Antagonism of α4ß2 Nicotinic Acetylcholine Receptors by Fluoroquinolone Antibiotics.
ACS Chem Neurosci
; 13(12): 1805-1817, 2022 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35657695
10.
Agonist and antagonist properties of an insect GABA-gated chloride channel (RDL) are influenced by heterologous expression conditions.
PLoS One
; 16(7): e0254251, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234379
11.
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA.
Cold Spring Harb Mol Case Stud
; 7(6)2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34887309
12.
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Eur J Hum Genet
; 27(5): 738-746, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679813
13.
Identification by virtual screening and functional characterisation of novel positive and negative allosteric modulators of the α7 nicotinic acetylcholine receptor.
Neuropharmacology
; 139: 194-204, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30009834