Buscar
Mostrando ítems 1-10 de 56
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes
(Springer Verlag (Germany), 2017)
TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma
(Springer Verlag (Germany), 2018)
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes
(Springer Verlag (Germany), 2017)
Características clínicas y moleculares de pacientes con Síndrome Li-Fraumeni diagnosticados en el Instituto Nacional Enfermedades Neoplásicas
(Universidad Peruana Cayetano HerediaPE, 2019)
El Síndrome Li-Fraumeni es un síndrome causado por variantes patogénicas en el gen TP53 y conlleva a riesgo aumentado para desarrollar neoplasias malignas de tejido blando, hueso, mama, cerebro, carcinomas adrenocorticales ...
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations
(BioMed CentralLondon, 2014-04-28)
Background: The Li-Fraumeni syndrome (LFS) is an inherited rare cancer predisposition syndrome characterized by
a variety of early-onset tumors. Although germline mutations in the tumor suppressor gene TP53 account for ...
Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome
(Elsevier B. V., 2015)
Li-Fraumeni syndrome (LFS) is a hereditary disorder that predisposes patients to several types of cancer and is associated with TP53 germline mutations. Turner syndrome (TS) is one of the most common aneuploidies in women. ...
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion
(BIOMED CENTRAL LTDLONDON, 2012)
Background: Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes are associated to germline TP53 mutations, and are characterized by the development of central nervous system tumors, sarcomas, adrenocortical carcinomas, ...