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Clinical, pathological and molecular characteristics of Chilean patients with early-, intermediate- and late-onset colorectal cancer
(MDPI, 2021)
Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality
rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still
lacking. This study aimed ...
Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation
(Wiley-Blackwell, 2010-11-01)
Congenital hyperinsulinism of infancy (CHI) is the most common cause of hypoglycemia in newborns and infants. Several molecular mechanisms are involved in the development of CHI, but the most common genetic defects are ...
Familial STAG2 germline mutation defines a new human cohesinopathy.
(Nature Publishing Group, 2018)
M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds
(Bioscientifica Ltd., 2020)
Kin-Driver: a Database of Driver Mutations in Protein Kinases
(Oxford University Press, 2014)
Somatic mutations in protein kinases (PKs) are frequent driver events in many human tumors, while germ-line mutations are associated with hereditary diseases. Here we present Kin-driver, the first database that compiles ...
Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation
(2008)
RET testing in multiple endocrine neoplasia type 2 for molecular diagnosis is the paradigm for the practice of clinical cancer genetics. However, precise data for distinct mutation-based risk profiles are not available. ...
NKX2.5 mutations in patients with non-syndromic congenital heart disease
(ELSEVIER IRELAND LTD, 2010)
Background: Cardiac development is a complex and multifactorial biological process. Heterozygous mutations in the transcription factor NKX2.5 are between the first evidence of a genetic cause for congenital heart defects ...