Detalhe da pesquisa
1.
5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.
Am J Med Genet A
; 191(3): 835-841, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458506
2.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
; 23(11): 2122-2137, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345025
3.
Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients.
Eur J Med Genet
; 66(10): 104843, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37716645
4.
A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.
Eur J Paediatr Neurol
; 35: 35-39, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34592644
5.
The role of mitochondrial DNA in breast tumors.
Drug Discov Today
; 24(5): 1202-1208, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30910739
6.
Mitochondrial RNA Expression and Single Nucleotide Variants in Association with Clinical Parameters in Primary Breast Cancers.
Cancers (Basel)
; 10(12)2018 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30544876
7.
Low Tumor Mitochondrial DNA Content Is Associated with Better Outcome in Breast Cancer Patients Receiving Anthracycline-Based Chemotherapy.
Clin Cancer Res
; 23(16): 4735-4743, 2017 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28420722
8.
Somatic Tumor Mutations Detected by Targeted Next Generation Sequencing in Minute Amounts of Serum-Derived Cell-Free DNA.
Sci Rep
; 7(1): 2136, 2017 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28522829
9.
Mitochondrial DNA content in breast cancer: Impact on in vitro and in vivo phenotype and patient prognosis.
Oncotarget
; 7(20): 29166-76, 2016 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27081694
10.
Somatic mutation detection using various targeted detection assays in paired samples of circulating tumor DNA, primary tumor and metastases from patients undergoing resection of colorectal liver metastases.
Mol Oncol
; 10(10): 1575-1584, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28949453
11.
Glycerophosphodiesterase GDE2 Promotes Neuroblastoma Differentiation through Glypican Release and Is a Marker of Clinical Outcome.
Cancer Cell
; 30(4): 548-562, 2016 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693046
12.
Glycerophosphodiesterase GDE2 Promotes Neuroblastoma Differentiation through Glypican Release and Is a Marker of Clinical Outcome.
Cancer Cell
; 30(6): 986, 2016 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27960089