Detalhe da pesquisa
1.
Myxoid epithelioid smooth muscle tumor of the vulva: A distinct entity with MEF2D::NCOA2 gene fusion.
Genes Chromosomes Cancer
; 63(1): e23209, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37870842
2.
EWSR1::WT1 Fusions in Neoplasms Other Than Conventional Desmoplastic Small Round Cell Tumor: Three Tumors Occurring Outside the Female Genital Tract.
Mod Pathol
; 37(3): 100418, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158126
3.
Live-born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series-Spanning 52 years of experience in a single center.
Am J Med Genet A
; 194(2): 253-267, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37807876
4.
HER2 amplification by next-generation sequencing to identify HER2-positive invasive breast cancer with negative HER2 immunohistochemistry.
Cancer Cell Int
; 22(1): 350, 2022 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36376842
5.
Peripheral blood blast rate of clearance is an independent predictor of clinical response and outcomes in acute myeloid leukaemia.
Br J Haematol
; 188(6): 881-887, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31804722
6.
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(5): 100804, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36971772
7.
An Integrated Approach Including CRISPR/Cas9-Mediated Nanopore Sequencing, Mate Pair Sequencing, and Cytogenomic Methods to Characterize Complex Structural Rearrangements in Acute Myeloid Leukemia.
Biomedicines
; 12(3)2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540211
8.
Detection of an atypical BCR::ABL1 fusion in a patient with secondary B-cell acute lymphoblastic leukemia/lymphoma following multiple myeloma treatment.
Cancer Genet
; 274-275: 30-32, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36966724
9.
Isogenic Cell Lines Derived from Specific Organ Metastases Exhibit Divergent Cytogenomic Aberrations.
Cancers (Basel)
; 15(5)2023 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36900209
10.
Ring Chromosomes in Hematological Malignancies Are Associated with TP53 Gene Mutations and Characteristic Copy Number Variants.
Cancers (Basel)
; 15(22)2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38001699
11.
Non-cutaneous syncytial myoepitheliomas are identical to cutaneous counterparts: a clinicopathologic study of 24 tumors occurring at diverse locations.
Virchows Arch
; 483(5): 665-675, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37548750
12.
Mechanism of delayed cell death following simultaneous CRISPR-Cas9 targeting in pancreatic cancers.
bioRxiv
; 2023 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066222
13.
Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas.
Genes (Basel)
; 14(6)2023 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372318
14.
Lynch syndrome caused by a novel deletion of the promoter and exons 1-13 of MLH1 gene.
Cancer Genet
; 262-263: 91-94, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149321
15.
Twin/Multiple Gestations With a Hydatidiform Mole: Clinicopathologic Analysis of 21 Cases With Emphasis on Molecular Genotyping and Parental Contribution.
Am J Surg Pathol
; 46(9): 1180-1195, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796652
16.
Utility of targeted next-generation sequencing assay to detect 1p/19q co-deletion in formalin-fixed paraffin-embedded glioma specimens.
Hum Pathol
; 126: 63-76, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35561840
17.
Precision Medicine in Pancreatic Cancer: Patient-Derived Organoid Pharmacotyping Is a Predictive Biomarker of Clinical Treatment Response.
Clin Cancer Res
; 28(15): 3296-3307, 2022 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35363262
18.
Evidence of epithelial to mesenchymal transition associated with increased tumorigenic potential in an immortalized normal prostate epithelial cell line.
Prostate
; 71(6): 626-36, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20945502
19.
Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.
Am J Med Genet A
; 155A(1): 141-4, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204222
20.
Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8.
Am J Med Genet A
; 155A(7): 1740-4, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21671393