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Fragile X Syndrome
(2015-02-10)
Cognitive and behavioral heterogeneity in genetic syndromes
(Soc Brasil PediatriaRio De Janeiro, RjBrasil, 2014)
Caracterizaçõ da linguagem na síndrome do X-frágil: estudo bibliográfico.
(2005-01-01)
BACKGROUND: X-Fragile Syndrome. AIM: To compile information about the language, cognitive and behavior alterations in the X-Fragile Syndrome, using the results of previously published studies and to present the standardized ...
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 ...
Fragile X syndrome. Clinical analysis of 300 Chilean patients with unspecific mental retardation Síndrome de X frágil. Análisis clínico en 300 pacientes con retardo mental inespecífico en la población chilena
(1998)
Background: Fragile X syndrome is the most important cause of sex linked mental retardation and the second of chromosomal origin, after Down syndrome. Aim: To apply the modified Hagerman score to patients with mental ...
The fragile x-associated tremor and ataxia syndrome (FXTAS)
(Academia Brasileira de Neurologia - ABNEURO, 2010)
FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene ...