Detalhe da pesquisa
1.
Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.
Hematol Oncol
; 40(3): 475-478, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613340
2.
Tumor surveillance for children and adolescents with cancer predisposition syndromes: The psychosocial impact reported by adolescents and caregivers.
Pediatr Blood Cancer
; 68(8): e29021, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33788392
3.
Non-rhabdomyosarcoma soft tissue sarcomas diagnosed in patients at a young age. An overview of clinical, pathological, and molecular findings.
Pediatr Blood Cancer
; 68(8): e29022, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33764675
4.
Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.
Clin Genet
; 96(5): 461-467, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31368132
5.
Evidence for genetic anticipation in vonHippel-Lindau syndrome.
J Med Genet
; 55(6): 395-402, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437867
6.
DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.
Pediatr Blood Cancer
; 65(1)2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28960912
7.
Pediatric imaging in DICER1 syndrome.
Pediatr Radiol
; 47(10): 1292-1301, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28474256
8.
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.
Lancet Oncol
; 17(9): 1295-305, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27501770
9.
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Hum Mutat
; 36(10): 931-40, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26251998
10.
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nat Cancer
; 4(2): 203-221, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36585449
11.
Perspectives and Experiences of Parents and Adolescents Who Participate in a Pediatric Precision Oncology Program: "When You Feel Helpless, This Kind of Thing Is Very Helpful".
JCO Precis Oncol
; 6: e2100444, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35357906
12.
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.
J Clin Oncol
; 39(25): 2779-2790, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33945292