Detalhe da pesquisa
1.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Lancet Oncol
; 25(5): 668-682, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552658
2.
A novel mobile health application to support cancer surveillance needs of patients and families with cancer predisposition syndromes.
Pediatr Blood Cancer
; 70(10): e30537, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37415085
3.
Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I.
Am J Med Genet A
; 188(9): 2707-2711, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35785415
4.
Cancer genetic counseling for childhood cancer predisposition is associated with improved levels of knowledge and high satisfaction in parents.
J Genet Couns
; 30(3): 710-719, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33179831
5.
Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts.
Curr Oncol Rep
; 21(10): 85, 2019 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31414239
6.
Hypogammaglobulinemia with decreased class-switched B-cells and dysregulated T-follicular-helper cells in IPEX syndrome.
Clin Immunol
; 197: 219-223, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30368009
7.
Images: Atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive sleep apnea.
J Clin Sleep Med
; 20(3): 478-481, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37861394
8.
Nervous system (NS) Tumors in Cancer Predisposition Syndromes.
Neurotherapeutics
; 19(6): 1752-1771, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36056180
9.
Comprehensive Genomic Profiling of High-Risk Pediatric Cancer Patients Has a Measurable Impact on Clinical Care.
JCO Precis Oncol
; 6: e2100451, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35544730
10.
Cancer Predisposition in Neonates and Infants: Recognition, Tumor Types, and Surveillance.
Clin Perinatol
; 48(1): 1-14, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33583498
11.
Reticular Dysgenesis: A Rare Immunodeficiency in a Neonate With Cytopenias and Bacterial Sepsis.
Pediatrics
; 148(6)2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34814161