Detalhe da pesquisa
1.
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
2.
Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers.
Gynecol Oncol
; 187: 198-203, 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38795508
3.
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
4.
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
J Med Genet
; 47(6): 421-8, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20522432
5.
The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes.
Eur J Hum Genet
; 15(1): 110-4, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17003841
6.
Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.
Fam Cancer
; 6(3): 311-6, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17318340
7.
Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation.
Fam Cancer
; 5(2): 169-74, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16736287
8.
Classic pseudoxanthoma elasticum in a patient with sickle cell disease.
J Am Acad Dermatol
; 56(1): 170-1, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17190641
9.
Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study.
JAMA Oncol
; 3(12): 1733-1734, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28772294
10.
Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences.
J Clin Oncol
; 28(18): 3008-14, 2010 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20479422
11.
The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.
Hered Cancer Clin Pract
; 7(1): 4, 2009 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-19338683
12.
An information-theoretic analysis of genetics, gender and age in cancer patients.
PLoS One
; 3(4): e1951, 2008 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-18398474