Listar por tema "Medical genetics"

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  • ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge's disease 
    Azad, P; Caldwell, AB; Ramachandran, S; Spann, NJ; Akbari, A; Villafuerte, Francisco C.; Bermudez, D; Zhao, HL; Poulsen, O; Zhou, D; Bafna, V; Subramaniam, S; Haddad, GG (Springer Nature, 2022)
    At high altitude Andean region, hypoxia-induced excessive erythrocytosis (EE) is the defining feature of Monge’s disease or chronic mountain sickness (CMS). At the same altitude, resides a population that has developed ...
  • Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry 
    Cornejo-Olivas, Mario; Torres, Luis; Velit-Salazar, Mario R.; Inca-Martinez, Miguel; Mazzetti, Pilar; Cosentino, Carlos; Micheli, Federico; Perandones, Claudia; Dieguez, Elena; Raggio, Victor; Tumas, Vitor; Borges, Vanderci; Ferraz, Henrique B.; Rieder, Carlos R. M.; Shumacher-Schuh, Artur; Velez-Pardo, Carlos; Jimenez-Del-Rio, Marlene; Lopera, Francisco; Chang-Castello, Jorge; Andreé-Munoz, Brennie; Waldherr, Sarah; Yearout, Dora; Zabetian, Cyrus P.; Mata, Ignacio F. (Springer, 2017)
    Mutations in Leucine-Rich Repeat Kinase 2 (LRRK2), primarily located in codons G2019 and R1441, represent the most common genetic cause of Parkinson's disease in European-derived populations. However, little is known about ...

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