Detalhe da pesquisa
1.
Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.
PLoS Genet;
14(6): e1007399, 2018 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29912901
2.
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.
J Hum Genet;
63(12): 1277-1281, 2018 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30228365
3.
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.
Am J Med Genet A;
173(4): 1071-1076, 2017 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28190287
4.
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.
Endocr J;
64(2): 229-234, 2017 Feb 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27885216
5.
Membranoproliferative glomerulonephritis and C3 glomerulonephritis: frequency, clinical features, and outcome in children.
Nephrology (Carlton);
20(4): 286-92, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25524631
6.
Neonatal necrotizing fasciitis of the scrotum caused by Streptococcus agalactiae.
Pediatr Int;
57(2): e56-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25712264
7.
Global demethylation in loss of imprinting subtype of Wilms tumor.
Genes Chromosomes Cancer;
52(2): 174-84, 2013 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23074036
8.
A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.
Clin Endocrinol (Oxf);
78(6): 957-65, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23095176
9.
Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant.
Am J Med Genet A;
155A(9): 2269-73, 2011 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21834035
10.
WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.
J Med Genet;
47(11): 791-4, 2010 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20679664
11.
Identification and validation of DNA methylation changes in pre-eclampsia.
Placenta;
110: 16-23, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34098319
12.
Human Papillomavirus E6/E7 Expression in Preeclampsia-Affected Placentae.
Pathogens;
9(3)2020 Mar 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32209998
13.
Increased levels of active c-Src distinguish invasive from in situ lobular lesions.
Breast Cancer Res;
11(4): R45, 2009.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19583841
14.
Destabilized adhesion in the gastric proliferative zone and c-Src kinase activation mark the development of early diffuse gastric cancer.
Cancer Res;
67(6): 2480-9, 2007 Mar 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17363565
15.
Ewing's Sarcoma with Extension into Superior Vena Cava and Right Atrium.
Indian J Surg Oncol;
10(1): 98-100, 2019 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30948882
16.
Selective Ablation of Tumorigenic Cells Following Human Induced Pluripotent Stem Cell-Derived Neural Stem/Progenitor Cell Transplantation in Spinal Cord Injury.
Stem Cells Transl Med;
8(3): 260-270, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30485733
17.
Laparoscopic subtotal colectomy for a patient with chronic idiopathic colonic pseudo-obstruction: Report of a case.
Asian J Endosc Surg;
12(4): 469-472, 2019 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30618177
18.
The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis.
Sex Dev;
12(4): 175-179, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29879705
19.
A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8.
Thyroid;
28(8): 1071-1073, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29882472
20.
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.
PLoS One;
13(11): e0206184, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30403727