Detalhe da pesquisa
1.
Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Nature
; 606(7912): 172-179, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35545680
2.
Spectrum and Excess Risk of Gastrointestinal Tumors in Li-Fraumeni Syndrome.
Clin Gastroenterol Hepatol
; 22(3): 662-665.e1, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714395
3.
Diet and physical activity behaviors: how are they related to illness perceptions, coping, and health-related quality of life in young people with hereditary cancer syndromes?
J Behav Med
; 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38642305
4.
How do young people with a hereditary cancer predisposition syndrome understand and experience cancer survivorship? "With Li-Fraumeni syndrome, it's just an intermission".
Psychooncology
; 32(3): 375-382, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36514197
5.
Author Correction: Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Nature
; 606(7914): E5, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35641605
6.
Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome.
Breast Cancer Res Treat
; 191(1): 159-167, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652547
7.
Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.
Lancet Oncol
; 22(12): 1787-1798, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780712
8.
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
J Pediatr
; 230: 55-61.e4, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32971146
9.
Family Identity and Roles in the Context of Li-Fraumeni Syndrome: "No One's Like Us Mutants".
Health Soc Work
; 46(4): 299-307, 2021 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618014
10.
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
Hum Mutat
; 41(9): 1555-1562, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32485079
11.
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
Hum Mutat
; 41(11): 1918-1930, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32790018
12.
Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations.
Fam Process
; 59(4): 1648-1663, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31647118
13.
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
Hum Mutat
; 40(1): 97-105, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352134
14.
Understanding the evolving phenotype of vascular complications in telomere biology disorders.
Angiogenesis
; 22(1): 95-102, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168024
15.
Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence.
J Psychosoc Oncol
; 37(2): 178-193, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591002
16.
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.
Am J Med Genet A
; 176(6): 1432-1437, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29696773
17.
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
J Med Genet
; 54(6): 417-425, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28280134
18.
Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.
Int J Mol Sci
; 18(8)2017 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28805708
19.
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.
Cancer
; 122(23): 3673-3681, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27496084
20.
Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.
Am J Hematol
; 91(12): 1215-1220, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27570172