Detalhe da pesquisa
1.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain
; 146(12): 5198-5208, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647852
2.
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes.
J Med Genet
; 60(12): 1218-1223, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460202
3.
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
4.
An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor.
Int J Cancer
; 146(4): 1010-1017, 2020 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31286500
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.
Retrospective evaluation of a decision-support algorithm (MIPOGG) for genetic referrals for children with neuroblastic tumors.
Pediatr Blood Cancer
; 65(12): e27390, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30117275
7.
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
8.
Novel Antibiotic Resistance Determinants from Agricultural Soil Exposed to Antibiotics Widely Used in Human Medicine and Animal Farming.
Appl Environ Microbiol
; 83(16)2017 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28625995
9.
Pediatric imaging in DICER1 syndrome.
Pediatr Radiol
; 47(10): 1292-1301, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28474256
10.
Germline whole genome sequencing in adults with multiple primary tumors.
Fam Cancer
; 22(4): 513-520, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37481477
11.
Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes.
JAMA Oncol
; 7(12): 1806-1814, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34617981