Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
N Engl J Med
; 383(18): 1746-1756, 2020 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33027564
3.
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.
Am J Med Genet A
; 188(8): 2479-2484, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491967
4.
The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing.
Prenat Diagn
; 42(10): 1288-1294, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35723972
5.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33299146
6.
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Am J Med Genet A
; 185(5): 1430-1436, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683022
7.
Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition.
Acta Neuropathol
; 139(6): 1071-1088, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303840
8.
Application of tail vein serial microsampling for plasma or dried plasma spots in toxicokinetic assessment in rats using acetaminophen as the model compound.
Biomed Chromatogr
; 34(10): e4917, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32543724
9.
Loss of p16 expression is a sensitive marker of CDKN2A homozygous deletion in malignant meningiomas.
Acta Neuropathol
; 145(4): 497-500, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36723772
10.
Induction of hemangiosarcoma in mice after chronic treatment with S1P-modulator siponimod and its lack of relevance to rat and human.
Arch Toxicol
; 92(5): 1877-1891, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29556671
11.
Activating NTRK2 and ALK receptor tyrosine kinase fusions extend the molecular spectrum of pleomorphic xanthoastrocytomas of early childhood: a diagnostic overlap with infant-type hemispheric glioma.
Acta Neuropathol
; 143(2): 283-286, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34910220
12.
Correlation Between Nasal Epithelial Injury and In Vitro Cytotoxicity Using a Series of Small Molecule Protein Tyrosine Phosphatase 1B Inhibitors Investigated for Reversal of Leptin Resistance in Obesity.
Int J Toxicol
; 36(4): 303-313, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28592157
13.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 796, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686260
14.
Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features.
Acta Neuropathol
; 139(5): 953-957, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32157385
15.
Recurrent non-canonical histone H3 mutations in spinal cord diffuse gliomas.
Acta Neuropathol
; 138(5): 877-881, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31515627
16.
Involvement of a volatile metabolite during phosphoramide mustard-induced ovotoxicity.
Toxicol Appl Pharmacol
; 277(1): 1-7, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24642057
17.
Acute 7,12-dimethylbenz[a]anthracene exposure causes differential concentration-dependent follicle depletion and gene expression in neonatal rat ovaries.
Toxicol Appl Pharmacol
; 276(3): 179-87, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24576726
18.
Comparison of coronary CT angiography image quality with and without breast shields.
AJR Am J Roentgenol
; 200(3): 529-36, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23436841
19.
TFG::ALK fusion in ALK positive large B-cell lymphoma: a case report and review of literature.
Front Oncol
; 13: 1174606, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37305584
20.
HER2 IHC Expression and Gene Amplification in p53-aberrant High-grade Endometrial Endometrioid Carcinoma Suggests That This Population May Benefit From HER2 Testing and Targeted Therapy.
Am J Surg Pathol
; 47(5): 580-588, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36939053