Detalhe da pesquisa
1.
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.
Nucleic Acids Res
; 51(D1): D1230-D1241, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373660
2.
Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma.
Mod Pathol
; 37(2): 100385, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37992967
3.
Uterine Leiomyosarcoma With Osteoclast-like Giant Cells: Report of 2 Cases and Review of Literature.
Int J Gynecol Pathol
; 43(2): 182-189, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37406452
4.
Disease Evolution Monitored by Serial Cerebrospinal Fluid Liquid Biopsies in Two Cases of Recurrent Medulloblastoma.
Int J Mol Sci
; 25(9)2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38732099
5.
A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.
Calcif Tissue Int
; 112(4): 518-523, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36575358
6.
Topography and etiologies of cerebellar infarcts presenting as isolated acute vestibular syndrome.
Neurol Sci
; 43(10): 5969-5976, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35802221
7.
Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings.
Pediatr Dev Pathol
; 24(2): 131-136, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33439110
8.
Safety of intravenous thrombolysis in stroke of unknown time of onset: A systematic review and meta-analysis.
J Thromb Thrombolysis
; 52(4): 1173-1181, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963484
9.
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Genet Med
; 21(11): 2644-2649, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147633
10.
Unusual radiological and histological presentation of a diffuse leptomeningeal glioneuronal tumor (DLGNT) in a 13-year-old girl.
Childs Nerv Syst
; 35(9): 1609-1614, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30770994
11.
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Am J Med Genet A
; 176(4): 862-876, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460469
12.
Myeloid lineage switch following chimeric antigen receptor T-cell therapy in a patient with TCF3-ZNF384 fusion-positive B-lymphoblastic leukemia.
Pediatr Blood Cancer
; 65(9): e27265, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797659
13.
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Am J Med Genet A
; 173(5): 1390-1395, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371217
14.
Microarray-Based DNA Methylation Profiling: Validation Considerations for Clinical Testing.
J Mol Diagn
; 26(6): 447-455, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38378079
15.
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory.
J Mol Diagn
; 26(1): 49-60, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981088
16.
Clinical, pathologic, and genomic characteristics of two pediatric glioneuronal tumors with a CLIP2::MET fusion.
Acta Neuropathol Commun
; 12(1): 63, 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38650040
17.
Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors.
J Mol Diagn
; 26(3): 159-167, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103592
18.
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors.
J Mol Diagn
; 26(2): 127-139, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38008288
19.
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis.
J Mol Diagn
; 26(5): 337-348, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38360210
20.
Morphological predictors of neurological deterioration in patients with acute isolated pontine infarct.
Acta Neurol Belg
; 123(4): 1371-1379, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36934362