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Distribution of FMR1 and FMR2 repeats in 2 Argentinean patients with primary ovarian 3 insufficiency
(MDPI AG, 2017-08)
The premutation state of FMR1 has been associated with Fragile X-related Premature Ovarian 29 Failure (POI) and is the most common known genetic cause for 46,XX patients. Nevertheless, very 30 few studies analyzed its ...
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
(2016)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene. The disorder is characterized by kinetic tremor ...
Expression of fragile X mental retardation protein and Fmr1 mRNA during folliculogenesis in the rat
(Bioscientifica, 2013-02-11)
Fragile X mental retardation protein (FMRP) belongs to a small family of RNA-binding proteins. Its absence or inactivity is responsible for fragile X syndrome, the most common cause of inherited mental retardation. Despite ...
Working memory and arithmetic impairments in children with FMR1 premutation and gray zone allelesDIFICULDADES NA MEMÓRIA DE TRABALHO E NA ARITMÉTICA EM ESCOLARES COM PRÉ-MUTAÇÕES OU ALELOS DA ZONA CINZENTA DO GENE FMR1
(Associação Neurologia Cognitiva e do Comportamento, 2023)
Information Report FMR-X
(Canadian Forest Service, 2018)
Diseño, fabricación y caracterización reológica de un fluido magnetoreológico
(2015-04-10)
En el desarrollo del presente trabajo de tesis se fabricaron fluidos magnetoreológicos (FMR) con Magnetita como medio discreto suspendida en aceite sintético comercial. Un FMR muestra una transición de un comportamiento ...
Direct molecular analysis of FMR-1 gene mutation in patients with fragile Xq syndrome and their families Análisis molecular directo de mutaciones en el gen FMR-1 en pacientes con Síndrome de Xq frágil y sus familias
(1998)
Background: The unequivocal diagnosis of fragile Xq syndrome is based in the direct analysis of the underlying FMR-1 gene mutation, that consists in an increased number of trinucleotide CGG repetitions. Aim: To study ...