Detalhe da pesquisa
1.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
2.
Neuroblastoma Patients' Outcome and Chromosomal Instability.
Int J Mol Sci
; 24(21)2023 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37958497
3.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genet Med
; 24(10): 2194-2203, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36001086
4.
E2F3 gene expression is a potential negative prognostic marker for localised and MYCN not-amplified neuroblastoma: Results of in silico analysis of 786 samples.
Pediatr Blood Cancer
; 69(10): e29800, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652628
5.
Genomic Analysis Made It Possible to Identify Gene-Driver Alterations Covering the Time Window between Diagnosis of Neuroblastoma 4S and the Progression to Stage 4.
Int J Mol Sci
; 23(12)2022 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35742955
6.
Exosomes from Plasma of Neuroblastoma Patients Contain Doublestranded DNA Reflecting the Mutational Status of Parental Tumor Cells.
Int J Mol Sci
; 22(7)2021 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33915956
7.
Genomic coamplification of CDK4/MDM2/FRS2 is associated with very poor prognosis and atypical clinical features in neuroblastoma patients.
Genes Chromosomes Cancer
; 59(5): 277-285, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31756773
8.
A Proteomic Analysis of GSD-1a in Mouse Livers: Evidence for Metabolic Reprogramming, Inflammation, and Macrophage Polarization.
J Proteome Res
; 18(7): 2965-2978, 2019 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173686
9.
Loss of whole chromosome X predicts prognosis of neuroblastoma patients with numerical genomic profile.
Pediatr Blood Cancer
; 66(5): e27635, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30688024
10.
Role of GOLPH3 and TPX2 in Neuroblastoma DNA Damage Response and Cell Resistance to Chemotherapy.
Int J Mol Sci
; 20(19)2019 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31557970
11.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Nat Commun
; 15(1): 365, 2024 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191484
12.
A Simple, Test-Based Method to Control the Overestimation Bias in the Analysis of Potential Prognostic Tumour Markers.
Cancers (Basel)
; 15(4)2023 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831529
13.
Multiple Genes with Potential Tumor Suppressive Activity Are Present on Chromosome 10q Loss in Neuroblastoma and Are Associated with Poor Prognosis.
Cancers (Basel)
; 15(7)2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046696
14.
Abdominal rhabdoid tumor presenting with symptomatic spinal epidural compression in a newborn. A case report.
Front Pediatr
; 11: 1337760, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38283400
15.
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?
Front Pediatr
; 11: 1051026, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36923276
16.
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Cancers (Basel)
; 15(6)2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980803
17.
The tumor suppressor hamartin enhances Dbl protein transforming activity through interaction with ezrin.
J Biol Chem
; 286(34): 29973-83, 2011 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-21712385
18.
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
Birth Defects Res
; 114(20): 1440-1448, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36345927
19.
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.
Front Pediatr
; 10: 847549, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35573960
20.
High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene TSSC1.
Cancers (Basel)
; 13(22)2021 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34830942