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Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA
(2014)
The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an individual), yet its transmission across generations cannot be readily predicted owing ...
VHL germline mutations in Argentinian patients with clinical diagnosis or single typical manifestations of type 1 von Hippel-Lindau disease
(Mary Ann Liebert, 2016-07)
Aims: von Hippel-Lindau (VHL) disease is caused by mutations in the VHL tumor-suppressor gene. As tumors that develop in the context of VHL also occur in a sporadic context, the frequency of this syndrome may be underestimated. ...
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 ...
Long-term prognosis of patients with pediatric pheochromocytoma
(Bioscientifica, 2014-01)
A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127, and MAX. Despite ...
BRCA1 and BRCA2 analysis of argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin
(Springer, 2012-09)
Background: The spectrum of BRCA1/2 genetic variation in breast-ovarian cancer patients has been scarcely investigated outside Europe and North America, with few reports for South America, where Amerindian founder effects ...
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
(NATURE PUBLISHING GROUP, 2011)
Germline mutations in CYBB, the human gene encoding the gp91(phox) subunit of the phagocyte NADPH oxidase, impair the respiratory burst of all types of phagocytes and result in X-linked chronic granulomatous disease (CGD). ...