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Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1Expand
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Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern
Objective: The association between FMR1 premutation and ovarian dysfunction has been widely studied, and many factors such as the repeat tract size, the sequence organization of the CGG repeat tract,Expand
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Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes
During the last few years, several studies have reported an excess of intermediate FMR1 alleles in patients with cognitive and/or behavioural phenotypes. Here, we report the frequency of intermediateExpand
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Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.
Fragile X syndrome (FXS) is the most common inherited form of mental retardation. It is caused by a CGG repeat expansion, which results in hypermethylation and silencing of the FMR1 gene. The resultsExpand
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Motor and mental dysfunction in mother–daughter transmitted FXTAS
Objectives: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neuropsychiatric degenerative disorder that occurs predominantly in male FMR1 premutation carriers. Recently, a broaderExpand
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15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.
Genomic rearrangements of chromosome 15q11-q13 are responsible for diverse phenotypes including intellectual disabilities and autism. 15q11.2 deletion, implicating common PWS/AS breakpoints BP1-BP2,Expand
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Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction.
Friedreich ataxia (FRDA) is the most common hereditary ataxia that is caused mainly by an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. Molecular tests for FRDAExpand
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[A study of subtelomeric rearrangements in 300 patients with mental retardation and multiple congenital anomalies: their clinical and molecular characterisation].
INTRODUCTION The study of mental retardation is one of the most complex fields in human genetics due to its high degree of clinical and genetic heterogeneity. About 50% of cases of mental retardationExpand
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Estudio de reordenamientos subteloméricos en 300 pacientes con retraso mental y anomalías congénitas múltiples: caracterización clínica y molecular
Introduccion. El estudio del retraso mental es uno de los campos mas complejos de la genetica humana debido a la alta heterogeneidad clinica y genetica que presenta. De ahi que actualmente casi unExpand
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