Detalles de la búsqueda
1.
Section E6.7-6.12 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in solid tumors.
Genet Med
; 26(4): 101070, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38376505
2.
ROS1 Alterations as a Potential Driver of Gliomas in Infant, Pediatric, and Adult Patients.
Mod Pathol
; 36(11): 100294, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37532182
3.
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 1818-1829, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34131312
4.
Cryptic and atypical KMT2A-USP2 and KMT2A-USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia.
Genes Chromosomes Cancer
; 59(7): 422-427, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32196814
5.
Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).
Genet Med
; 21(9): 1903-1916, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31138931
6.
First Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination.
Pediatr Dev Pathol
; 21(6): 561-567, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29216801
7.
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Hum Genet
; 135(5): 569-586, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-27071622
8.
"Low-Fat" Pseudoangiomatous Spindle Cell Lipoma: A Rare Variant With Loss of 13q14 Region.
Am J Dermatopathol
; 37(12): 920-3, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25839893
9.
American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders.
Genet Med
; 15(6): 484-94, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23619274
10.
Novel high-risk acute myeloid leukemia subgroup with ERG amplification and Biallelic loss of TP53.
Cancer Genet
; 272-273: 23-28, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36657266
11.
Postmortem Diagnosis of the Proteus Syndrome by Next Generation Sequencing of Affected Brain Tissue.
Acad Forensic Pathol
; 12(2): 52-57, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35799996
12.
Clinical utility of chromosomal microarray in establishing clonality and high risk features in patients with Richter transformation.
Cancer Genet
; 260-261: 18-22, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34808593
13.
American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.
Genet Med
; 13(7): 676-9, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21681105
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21633292
15.
Establishment and genomic characterization of a sporadic malignant peripheral nerve sheath tumor cell line.
Sci Rep
; 11(1): 5690, 2021 03 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33707600
16.
Laboratory guideline for Turner syndrome.
Genet Med
; 12(1): 52-5, 2010 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-20081420
17.
Assessing Genomic Copy Number Alterations as Best Practice for Renal Cell Neoplasia: An Evidence-Based Review from the Cancer Genomics Consortium Workgroup.
Cancer Genet
; 244: 40-54, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32434132
18.
Integrated genomic analysis using chromosomal microarray, fluorescence in situ hybridization and mate pair analyses: Characterization of a cryptic t(9;22)(p24.1;q11.2)/BCR-JAK2 in myeloid/lymphoid neoplasm with eosinophilia.
Cancer Genet
; 246-247: 44-47, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32827877
19.
Near haploidization is a genomic hallmark which defines a molecular subgroup of giant cell glioblastoma.
Neurooncol Adv
; 2(1): vdaa155, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33392505
20.
Multi-Site PCR-based CMV viral load assessment-assays demonstrate linearity and precision, but lack numeric standardization: a report of the association for molecular pathology.
J Mol Diagn
; 11(2): 87-92, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19225134