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APC germline mutations in families with familial adenomatous polyposis
(Spandidos Publ LtdAthensGrécia, 2013)
Lack of mutation in exon 10 of p53 gene in thyroid tumors
(Soc Medica SantiagoSantiago 9Chile, 2004)
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients
(Scientific Reports, 2017-07-05)
Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively ...
Multiple paragangliomas associated to a SDHB gene mutation. report of one case Paragangliomas múltiples asociados a mutación del gen SDHB. caso clínico
(2011)
Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations ...
Germline mutations of the ret proto-oncogen in chilean patients with hereditary and sporadic medullary thyroid carcinoma
(SOCIEDAD MEDICA DE SANTIAGO, 2001)
Novel germline copy number variations in patients with hereditary colorectal carcinoma with no mutation in the mismatch repair genes
(Amer Assoc Cancer Research, 2015-08-01)
Xeroderma pigmentosum: Low prevalence of germline XPA mutations in a brazilian XP population
(2015-04-01)
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide ...
Prevalence of the germline TP53 p.R337H mutation in families with multiple cases of cancer
(Universidade Estadual Paulista (Unesp), 2013)
Germline mutations in TP53 gene are associated with Li-Fraumeni syndrome (LFS) and its variants Li-Fraumeni-like (LFL). They predispose carriers to a wide variety of early onset tumors. In Brazil, there is a high frequency ...