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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, ...
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 ...
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, ...
Intermediate and expanded FMR1 alleles in an autistic Costa Rican population
(2022-03-01)
Objective: We aimed to determine the distribution of intermediate and expanded FMR1 alleles in Costa Rican individuals diagnosed with autism. Materials and methods: A total of 212 autism spectrum disorder (ASD) cases of ...
Comparison Between the Polymerase Chain Reaction-Based Screening and the Southern Blot Methods for Identification of Fragile X Syndrome
(Mary Ann Liebert, Inc., 2012-11-01)
The fragile X syndrome (FXS), the most common cause of hereditary mental retardation, is caused by expansions of CGG repeats in the FMR1 gene. The gold-standard method to diagnose FXS is the Southern blot (SB). Because SB ...
Comparison Between the Polymerase Chain Reaction-Based Screening and the Southern Blot Methods for Identification of Fragile X Syndrome
(Mary Ann Liebert, Inc., 2012-11-01)
The fragile X syndrome (FXS), the most common cause of hereditary mental retardation, is caused by expansions of CGG repeats in the FMR1 gene. The gold-standard method to diagnose FXS is the Southern blot (SB). Because SB ...