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Report of a new mutation in CYBB gene in two patients with X linked chronic granulomatous disease
(Soc Medica SantiagoSantiago 9Chile, 2006)
Genomic Correlates of Atherosclerosis in Ancient Humans
(Elsevier, 2014)
Paleogenetics offers a unique opportunity to study human evolution, population dynamics, and disease evolution in situ. Although histologic and computed x-ray tomographic investigations of ancient mummies have clearly shown ...
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype
(2020-01-01)
Objective To analyze the modulation of the phenotype in manifesting carriers of recessive X-linked myotubular myopathy (XLMTM), searching for possible genetic modifiers. Methods Twelve Brazilian families with XLMTM were ...
Genetic and Epigenetic Associations with NAFLD: Focus on Clinical Decision Making and Novel Concepts in Disease Pathogenesis
(Springer, 2014-02)
Nonalcoholic fatty liver disease (NAFLD) is a complex liver disease with worldwide prevalence. Its development involves a myriad of factors, including genetic susceptibility and environmental insults. In this review, we ...
Audiologic Features of Norrie Disease
(Ann Otol Rhinol Laryngol 114 (7) p. 533-538, 2005)
Objectives: Norrie disease is an X-linked recessive disorder in which patients are born blind and develop sensory hearing
loss in adolescence. The hearing loss associated with Norrie disease has been shown in a genetically ...
Audiologic Features of Norrie Disease
(Ann Otol Rhinol Laryngol 114 (7) p. 533-538, 2005)
Objectives: Norrie disease is an X-linked recessive disorder in which patients are born blind and develop sensory hearing
loss in adolescence. The hearing loss associated with Norrie disease has been shown in a genetically ...