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FRAXA premutation associated with premature ovarian failure
(Wiley-Blackwell, 1996-08-09)
A family is described in which six females in three generations experienced premature ovarian failure (POF), in three of them a FRAXA premutation was documented and the carrier status of a fourth female could be inferred, ...
Autistic traits and mental health in women with the fragile-X premutation: maternal status versus genetic risk
(Cambridge University Press, 2021)
Background
Research on women with the fragile-X premutation (FX-p) has been underrepresented within the field of behavioural phenotypes. Aims To understand whether the FX-p confers risk for autistic traits, depression ...
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 ...
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis
(Amer. Assoc. Clinical Chemistry, 2016)
BACKGROUND: FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal (<45 CGG) or gray-zone (GZ) (45-54 CGG) allele can be missed with the standard 2-step fragile X syndrome (FXS) testing protocols, ...
Fenótipos em portadoras brasileiras da pré-mutação da síndrome do X-Frágil
(Florianópolis, SC., 2015)
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)
FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile
(Cambridge University Press, 2016)
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and co-morbid autism. It is caused by an amplification of the CGG repeat (>200), which is known as the full mutation, within the ...
Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
(Associação Neurologia Cognitiva e do Comportamento, 2022)
RESUMO. Mutações expansivas no gene FMR1 têm sido associadas a diferentes fenótipos. Mutações completas estão associadas a deficiência intelectual e transtorno do espectro do autismo; pré-mutações, com dificuldades de ...
O espectro das falências ovarianas ligadas ao cromossomo X
(Sociedade Brasileira de Endocrinologia e Metabologia, 2001-08-01)
Clinically ovarian failure is presented by primary or secondary amenorrhea and high levels of pituitary gonadotropins mainly FSH. Monossomy or X-chromosome rearrangements are among a variable number of suggested etiopathogenic ...
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile
(Blackwell Publishing Ltd, 2014)
© 2013 John Wiley & Sons A/S. Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, ...