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A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function
(Wiley-liss, div John Wiley & Sons Inc., 2018-02)
We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, ...
TNF -308 and DDX39B -22/ -348 polymorphisms in individuals with latent versus active tuberculosis in Salvador, Bahia, Brazil
(Sociedade Brasileira de Medicina Tropical, 2017)
A genomic aproach to the molecular basis of the effect of parity on ovarian cancer risk
(2014)
Background: Ovarian cancer (OC) continues to be the top ranking deadliest gynecological cancer
worldwide. Several epidemiologic studies have shown an inverse relationship between OC risk and
parity. Compared to the ...
Role of X-linked genes on sex differences in neurogenin 3 expression in developing hypothalamic neurons
(2016)
Our previous findings indicate that sex chromosome complement regulates the generation of sex differences in mouse hypothalamic neuronal development. Higher expression of neurogenin 3 (Ngn3) in XX neurons mediates sex ...
Paternal ancestry of Peruvian creole cattle inferred from Y-chromosome analysis
(El SevierReino Unido, 2020-12-15)
The aim of this study was the identification of the genetic diversity and paternal origin of Peruvian creole cattle. A panel of 7 Y-chromosome specific markers (INRA189, UMN0103, BM861, UMN307, BYM-1, DDX3Y_1STR and ZFY10) ...
A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency
Premature ovarian insufficiency (POI) is a frequent pathology that affects women under 40 years of age, characterized by an early cessation of menses and high FSH levels. Despite recent progresses in molecular diagnosis, ...
A pedagogia de competências na reforma da educação profissional no Brasil: entre a teoria e a prática escolarThe pedagogy of competences in the reform of professional education in Brazil: between theory and school practice
(Universidade Federal de UberlândiaBrasilPrograma de Pós-graduação em Educação, 2019)
Beneficios de la nación con la implementación del sistema de cuenta única nacional
El presente ensayo, desarrolla el Sistema de Cuenta Única Nacional, con relación al manejo de los recursos Nación sin situación de fondos y propios de las entidades, con dicha implementación se generan beneficios para ...
Avaliação das manifestações clínicas, da cronicidade e da expressão gênica na febre chikungunya
(Pós-Graduação em Ciências da SaúdeUniversidade Federal de Sergipe, 2023)