Detalhe da pesquisa
1.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
2.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35682590
3.
BRCA gene testing in women with high-grade serous ovarian carcinoma.
J Obstet Gynaecol
; 41(6): 962-965, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33228436
4.
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Hum Genet
; 139(5): 575-592, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32193685
5.
Wales Infants' and childreN's Genome Service (WINGS): providing rapid genetic diagnoses for unwell children.
Arch Dis Child
; 109(5): 409-413, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38320813
6.
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Eur J Hum Genet
; 31(12): 1421-1429, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704779
7.
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Eur J Hum Genet
; 30(1): 95-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34645992
8.
A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants.
Radiol Case Rep
; 16(8): 2240-2243, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34178199
9.
Sphingosylphosphorylcholine reduces the organ injury/dysfunction and inflammation caused by endotoxemia in the rat.
Crit Care Med
; 36(2): 550-9, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18216604
10.
Muramyl dipeptide enhances the response to endotoxin to cause multiple organ injury in the anesthetized rat.
Shock
; 29(3): 388-94, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17693945
11.
Lysophosphatidic acid reduces the organ injury caused by endotoxemia-a role for G-protein-coupled receptors and peroxisome proliferator-activated receptor-gamma.
Shock
; 27(1): 48-54, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17172980
12.
Lipoproteins in inflammation and sepsis. I. Basic science.
Intensive Care Med
; 33(1): 13-24, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17093985
13.
Lysophosphatidylcholine reduces the organ injury and dysfunction in rodent models of gram-negative and gram-positive shock.
Br J Pharmacol
; 148(6): 769-77, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16751791
14.
Glycogen synthase kinase-3beta inhibitors protect against the organ injury and dysfunction caused by hemorrhage and resuscitation.
Shock
; 25(5): 485-91, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16680013
15.
Inhibition of endogenous hydrogen sulfide formation reduces the organ injury caused by endotoxemia.
Br J Pharmacol
; 146(4): 498-505, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16100527
16.
Endotoxin induced hyperlactatemia and hypoglycemia is linked to decreased mitochondrial phosphoenolpyruvate carboxykinase.
Life Sci
; 84(21-22): 738-44, 2009 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-19268478
17.
Treatment with the glycogen synthase kinase-3beta inhibitor, TDZD-8, affects transient cerebral ischemia/reperfusion injury in the rat hippocampus.
Shock
; 30(3): 299-307, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18323734
18.
Selective NOD1 agonists cause shock and organ injury/dysfunction in vivo.
Am J Respir Crit Care Med
; 175(6): 595-603, 2007 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17234906
19.
Peroxisome proliferator-activated receptor-gamma antagonists GW9662 and T0070907 reduce the protective effects of lipopolysaccharide preconditioning against organ failure caused by endotoxemia.
Crit Care Med
; 34(4): 1131-8, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16484917
20.
Insulin reduces the multiple organ injury and dysfunction caused by coadministration of lipopolysaccharide and peptidoglycan independently of blood glucose: role of glycogen synthase kinase-3beta inhibition.
Crit Care Med
; 34(5): 1489-96, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16557150