Detalhe da pesquisa
1.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clin Genet
; 105(3): 294-301, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044714
2.
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix.
Int J Gynecol Pathol
; 36(6): 593-599, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28177947
3.
Gliosarcomas lack BRAFV600E mutation, but a subset exhibit ß-catenin nuclear localization.
Neuropathology
; 36(5): 448-455, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26932501
4.
Clinical next-generation sequencing in patients with non-small cell lung cancer.
Cancer
; 121(4): 631-9, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25345567
5.
Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.
Am J Med Genet A
; 164A(5): 1118-26, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458548
6.
NTRK3-Rearranged Prostatic Acinar Adenocarcinoma: Report of a Patient and Review of the Literature.
Int J Surg Pathol
; : 10668969241253197, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772598
7.
Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.
Am J Med Genet A
; 152A(12): 3148-53, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21108400
8.
Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes.
Eur J Med Genet
; 63(3): 103736, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422286
9.
Future of Personalized Therapy Targeting Aberrant Signaling Pathways in Multiple Myeloma.
Clin Lymphoma Myeloma Leuk
; 19(7): 397-405, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036508
10.
NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.
Am J Med Genet A
; 161A(2): 377-81, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23300014
11.
Unexpected favorable outcome in a patient with high grade B-cell lymphoma with abnormalities of MYC, BCL6 and BCL2 loci.
Cancer Genet
; 222-223: 25-31, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29666005
12.
NeoPalAna: Neoadjuvant Palbociclib, a Cyclin-Dependent Kinase 4/6 Inhibitor, and Anastrozole for Clinical Stage 2 or 3 Estrogen Receptor-Positive Breast Cancer.
Clin Cancer Res
; 23(15): 4055-4065, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28270497
13.
Neratinib Efficacy and Circulating Tumor DNA Detection of HER2 Mutations in HER2 Nonamplified Metastatic Breast Cancer.
Clin Cancer Res
; 23(19): 5687-5695, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28679771
14.
A Phase II Trial of Neoadjuvant MK-2206, an AKT Inhibitor, with Anastrozole in Clinical Stage II or III PIK3CA-Mutant ER-Positive and HER2-Negative Breast Cancer.
Clin Cancer Res
; 23(22): 6823-6832, 2017 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28874413
15.
Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.
Circ Res
; 90(9): 951-8, 2002 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-12016260
16.
Identification of major factors associated with failed clinical molecular oncology testing performed by next generation sequencing (NGS).
Mol Oncol
; 9(9): 1737-43, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26071350
17.
Efficient two-trait-locus linkage analysis through program optimization and parallelization: application to hypercholesterolemia.
Eur J Hum Genet
; 12(7): 542-50, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15100714
18.
Detection of gene rearrangements in targeted clinical next-generation sequencing.
J Mol Diagn
; 16(4): 405-17, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24813172
19.
Validation of a next-generation sequencing assay for clinical molecular oncology.
J Mol Diagn
; 16(1): 89-105, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24211365
20.
Clinical genomicist workstation.
AMIA Jt Summits Transl Sci Proc
; 2013: 156-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24303327