Detalhe da pesquisa
1.
Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.
BMC Med
; 22(1): 9, 2024 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191387
2.
Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics.
Genet Med
; 26(2): 101032, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38006283
3.
Double somatic mutations in mismatch repair genes are frequent in colorectal cancer after Hodgkin's lymphoma treatment.
Gut
; 67(3): 447-455, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29439113
4.
Optimized whole-genome sequencing workflow for tumor diagnostics in routine pathology practice.
Nat Protoc
; 19(3): 700-726, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38092944
5.
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
Mol Genet Metab
; 105(4): 596-601, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22281021
6.
Molecular characterization of gastric adenocarcinoma diagnosed in patients previously treated for Hodgkin lymphoma or testicular cancer.
PLoS One
; 17(7): e0270591, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35877698
7.
Challenges in breast cancer genetic testing. A call for novel forms of multidisciplinary care and long-term evaluation.
Crit Rev Oncol Hematol
; 176: 103642, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35257886
8.
Homologous Recombination Deficiency and Cyclin E1 Amplification Are Correlated with Immune Cell Infiltration and Survival in High-Grade Serous Ovarian Cancer.
Cancers (Basel)
; 14(23)2022 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36497449
9.
Prognostic Value of Stromal Tumor-Infiltrating Lymphocytes in Young, Node-Negative, Triple-Negative Breast Cancer Patients Who Did Not Receive (neo)Adjuvant Systemic Therapy.
J Clin Oncol
; 40(21): 2361-2374, 2022 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353548
10.
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Ann Neurol
; 65(5): 550-6, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19142996
11.
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
Mol Genet Metab
; 97(4): 312-4, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19501531
12.
[BRCAmutations more frequent in people of Jewish ancestry]. / VakerBRCA-mutaties bij mensen van Joodse komaf.
Ned Tijdschr Geneeskd
; 1632019 03 01.
Artigo
em Holandês
| MEDLINE | ID: mdl-30875152
13.
Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome.
Mol Genet Genomic Med
; 7(7): e00699, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104363
14.
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
Neurogenetics
; 9(3): 183-90, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18350323
15.
Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.
Gene
; 418(1-2): 53-9, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18515020
16.
Crizotinib treatment for patients with EGFR mutation positive NSCLC that acquire cMET amplification after EGFR TKI therapy results in short-lived and heterogeneous responses.
Lung Cancer
; 124: 130-134, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30268451
17.
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Hum Mutat
; 28(9): 890-6, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17465020
18.
Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.
J Inherit Metab Dis
; 29(2-3): 345-6, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16763899
19.
Phase II Study of WEE1 Inhibitor AZD1775 Plus Carboplatin in Patients With TP53-Mutated Ovarian Cancer Refractory or Resistant to First-Line Therapy Within 3 Months.
J Clin Oncol
; 34(36): 4354-4361, 2016 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27998224
20.
RAD51B in Familial Breast Cancer.
PLoS One
; 11(5): e0153788, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27149063