Detalhe da pesquisa
1.
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(2): 255-261, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906464
2.
The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(3): 100342, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36547466
3.
Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.
Am J Med Genet A
; 176(6): 1423-1426, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663647
4.
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.
Am J Med Genet A
; 176(12): 2791-2797, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30216695
5.
Synergistic, collaterally sensitive ß-lactam combinations suppress resistance in MRSA.
Nat Chem Biol
; 11(11): 855-61, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26368589
6.
Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.
Am J Hum Genet
; 87(1): 154-60, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598276
7.
Morphologic, immunophenotypic, molecular genetic, and clinical characterization in patients with SRSF2-mutated acute myeloid leukemia.
Am J Clin Pathol
; 160(5): 490-499, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37458189
8.
De Novo Acute Myeloid Leukemia with Combined CBFB-MYH11 and BCR-ABL1 Gene Rearrangements: A Case Report and Review of Literature.
Case Rep Hematol
; 2020: 8822670, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33489389
9.
Mutation of the H-helix in antithrombin decreases heparin stimulation of protease inhibition.
Biochim Biophys Acta
; 1774(11): 1431-7, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17905675
10.
Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer.
Cancer Prev Res (Phila)
; 11(10): 655-664, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30104415
11.
Comprehensive validation of array comparative genomic hybridization platforms: how much is enough?
Genet Med
; 9(9): 632-41, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17873652
12.
Diagnostic and Prognostic Utility of Fluorescence In situ Hybridization (FISH) Analysis in Acute Myeloid Leukemia.
Curr Hematol Malig Rep
; 12(6): 568-573, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29064023
13.
Overview of Clinical Cytogenetics.
Curr Protoc Hum Genet
; 89: 8.1.1-8.1.13, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27037488
14.
Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies.
Am J Med Genet A
; 143A(20): 2357-70, 2007 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17853469
15.
A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.
Clin Chem
; 52(10): 1864-70, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16887896