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Mutational profile of KIT and PDGFRA genes in gastrointestinal stromal tumors in Peruvian samples
(Revista Española de Enfermedades Digestivas, 2015)
Acceso abierto
Determina la frecuencia de las mutaciones KIT y PDGFRA en una muestra de 25 tumores del estroma gastrointestinal recogidos durante dos años en dos importantes hospitales nacionales del Perú. Hubo 21 muestras recogidas del ...
A Novel Locus (RP24) for X-linked Retinitis Pigmentosa Maps to Xq26-27
(Cell Press, 1998-11)
Acceso abierto
Two genetic loci, RP2 and RP3, for X-linked retinitis pigmentosa (XLRP) have been localized to Xp11.3-11.23 and Xp21.1, respectively. RP3 appears to account for 70% of XLRP families; however, mutations in the RPGR gene ...
Genetics and genomics in Peru: Clinical and research perspective
(Wiley Open Access, 2018-12-25)
Acceso abierto
Peruvians currently preserve in their DNA the history of 2.5 million years of human evolution and 150,000 years of migration from Africa to Peru or the Americas. The development of Genetics and Genomics in the clinical and ...
Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors
(Springer Nature Limited, 2013-07-18)
Acceso abierto
In order to investigate the underlying genetic structure and genomic ancestry proportions of Peruvian subpopulations, we analyzed 551 human samples of 25 localities from the Andean, Amazonian, and Coastal regions of Peru ...
Y chromosome sequences reveal a short beringian standstill, rapid expansion, and early population structure of native american founders
(Elsevier Ltd., 2018-12-20)
Acceso abierto
The Americas were the last inhabitable continents to be occupied by humans, with a growing multidisciplinary consensus for entry 15–25 thousand years ago (kya) from northeast Asia via the former Beringia land bridge [1, ...
Mutational analysis of BRCA 1 and BRCA 2 genes in Peruvian families with hereditary breast and ovarian cancer
(Wiley Periodicals, Inc., 2017-06-28)
Acceso abierto
Background
Breast cancer is one of the most prevalent malignancies in the world. In Peru, breast cancer is the second cause of death among women. Five to ten percent of patients present a high genetic predisposition due ...
Genetic ancestry of families of putative inka descent
(Springer-Verlag GmbH Alemania, 2018-03-03)
Acceso abierto
This study focuses on the descendants of the royal Inka family. The Inkas ruled Tawantinsuyu, the largest pre-Columbian empire in South America, which extended from southern Colombia to central Chile. The origin of the ...
Peruvian horse sickness virus and Yunnan orbivirus, isolated from vertebrates and mosquitoes in Peru and Australia
(Elsevier B.V., 2009-11-25)
Acceso abierto
During 1997, two new viruses were isolated from outbreaks of disease that occurred in horses, donkeys, cattle and sheep in Peru. Genome characterization showed that the virus isolated from horses (with neurological disorders, ...
Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family
(Sociedade Brasileira de Genética, 2020)
Acceso abierto
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have ...
A paleogenomic reconstruction of the deep population history of the andes
(Elsevier, 2020-05-06)
Acceso abierto
There are many unanswered questions about the population history of the Central and South Central Andes, particularly regarding the impact of large-scale societies, such as the Moche, Wari, Tiwanaku, and Inca. We assembled ...