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Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary dif...
Oliveira, C; Sousa, S; Pinheiro, H; Karam, R; Bordeira-Carriço, R; Senz, J; Kaurah, P; Carvalho, J; Pereira, R; Gusmão, L; Wen, X; Cipriano, MABACKGROUND & AIMS: Hereditary diffuse gastric cancer (HDGC) families carry CDH1 heterozygous germline mutations; their tumors acquire complete CDH1 inactivation through "2nd-hit" mechanisms. Most frequently, this occurs via promoter hypermethylation (epigenetic modification), and less frequently via CDH1 mutations and loss of heterozygosity (LOH). We quantified the different 2nd hits in CDH1 occurring in neopla...
Two pairs of proven monozygotic twins discordant for familial amyloid neuropath...
MUNAR‐QUES, M.; PEDROSA, J.L.; COELHO, T.; GUSMAO, L.; SERUCA, R.; AMORIM, A.; SEQUEIROS, J.J Med Genet. 1999 Aug;36(8):629-32. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. Munar-Qués M, Pedrosa JL, Coelho T, Gusmão L, Seruca R, Amorim A, Sequeiros J. Grupo de Estudio de la PAF, Palma de Mallorca, Spain. Abstract Twin studies are an important tool in medical genetics for the evaluation of the relative roles of genetic and non-genetic factors in ...
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