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Article
Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS
Mitochondrial involvement plays an important role in neurodegenerative diseases. At least one-third of adult carriers of a FMR1 premutation (55-200 CGG repeats) are at risk of presenting an adult-onset neurodegen...
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Article
Open AccessX-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to u...
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Article
Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome
Ornithine transcarbamylase deficiency is an X-linked semidominant trait that is the most frequent inborn error of the urea cycle. Three hundred and fifty different mutations, including mostly point mutations a...
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Article
Elastin Mutation Screening in a Group of Patients Affected by Vascular Abnormalities
Supravalvular aortic stenosis is an uncommon but well-characterized congenital form of left ventricular outflow obstruction. The lesion involves the ascending aorta and often occurs in association with pulmona...
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Article
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation
Hyperphenylalaninemia (HPA) is a group of diseases characterized by the persistent elevation of phenylalanine levels in tissues and biological fluids. It is an autosomal recessive disorder affecting 1 in 10,0...
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Article
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation
Fragile X syndrome is the most common inherited form of familial mental retardation. It results from a (CGG) n trinucleotide expansion in the FMR1 gene leading to the typical M...
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Article
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion
Fragile X syndrome is the most common cause of inherited mental retardation. The incidence has been estimated to be 1 in 1250 males and 1 in 2000 females. Molecular studies have shown that 95% of fragile X sy...
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Article
YAC and cosmid FISH map** of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome
Most cases of Down syndrome (DS) result from a supernumerary chromosome 21; however, there are rare cases in which DS is due to partial trisomy of chromosome 21, involving various segments of the chromosome. ...
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Article
Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families
The fragile X mental retardation syndrome is caused by an expansion of a trinucleotide repeat (CGG)n in the FMR-1 gene. Molecular genetic study of fragile X provides accurate diagnosis and facilitates genetic cou...