Detalhe da pesquisa
1.
How Many Tests Does It Take to Diagnose a Triple-Hit B-Lymphoblastic Lymphoma? (Hint, It's A Lot).
Pediatr Dev Pathol
; 27(2): 193-197, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38032739
2.
Characterization of unusual iAMP21 B-lymphoblastic leukemia (iAMP21-ALL) from the Mayo Clinic and Children's Oncology Group.
Genes Chromosomes Cancer
; 61(12): 710-719, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35771717
3.
A Malignant Mimicker: Features of Kikuchi-Fujimoto Disease in the Pediatric Population.
Pediatr Dev Pathol
; 25(5): 538-547, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35583198
4.
Lineage Switch in an Infant B-Lymphoblastic Leukemia With t(1;11)(p32;q23); KMT2A/EPS15, Following Blinatumomab Therapy.
Pediatr Dev Pathol
; 24(4): 378-382, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749383
5.
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
Am J Med Genet A
; 176(11): 2301-2308, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30063105
6.
Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.
Genet Med
; 17(5): 400-4, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232848
7.
ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization.
Genet Med
; 21(10): 2405, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028353
8.
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
Hum Mol Genet
; 20(19): 3769-78, 2011 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21729882
9.
A mouse model for cyclin E-dependent genetic instability and tumorigenesis.
Cancer Cell
; 8(1): 35-47, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16023597
10.
Paediatric B lymphoblastic leukaemia with hyperdiploidy and a false-positive KMT2A fluorescence in situ hybridization result.
Cancer Genet
; 278-279: 80-83, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37742392
11.
Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants.
Arch Pathol Lab Med
; 2023 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37852169
12.
Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data.
Arch Pathol Lab Med
; 146(4): 451-461, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34424952
13.
Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization.
Genet Med
; 13(7): 667-75, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21738013
14.
College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis.
Genet Med
; 13(9): 765-9, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21633292
15.
16S rRNA Gene Amplicon Sequencing of Gut Microbiota in Three Species of Deep-Sea Fish in Suruga Bay, Japan.
Microbiol Resour Announc
; 10(1)2021 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414347
16.
Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development.
Dev Cell
; 8(1): 31-42, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15669143
17.
TGF-beta receptor inactivation and mutant Kras induce intestinal neoplasms in mice via a beta-catenin-independent pathway.
Gastroenterology
; 136(5): 1680-8.e7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19208363
18.
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Genet Med
; 12(10): 641-7, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20808231
19.
Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p).
Am J Med Genet A
; 152A(11): 2827-31, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20830805
20.
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.
Genet Med
; 11(12): 866-73, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19904209