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  1. No Access

    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...

    M. I. Alvarez-Mora, L. Rodriguez-Revenga, I. Madrigal… in Molecular Neurobiology (2017)

  2. Article

    Open Access

    X-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...

    I Madrigal, L Rodríguez-Revenga, L Armengol, E González, B Rodriguez… in BMC Genomics (2007)

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  3. No Access

    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...

    J. A. Arranz, I. Madrigal, E. Riudor… in Journal of Inherited Metabolic Disease (2007)

  4. No Access

    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...

    L. Rodriguez-Revenga, C. Badenas, A. Carrió, M. Milà in Pediatric Cardiology (2005)

  5. No Access

    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...

    J. Mallolas, M. Antònia Vilaseca, J. Campistol, N. Lambruschini… in Human Genetics (1999)

  6. No Access

    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...

    M. Milà, Aurora Sànchez, Cèlia Badenas, Carme Brun, Dolores Jiménez… in Human Genetics (1997)

  7. No Access

    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...

    M. Milà, Sergi Castellví-Bel, Ramon Giné, Carlos Vazquez, Cèlia Badenas… in Human Genetics (1996)

  8. No Access

    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. ...

    M. Nadal, M. Milà, Melanie Pritchard, Antonio Mur, Josep Pujals… in Human Genetics (1996)

  9. No Access

    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...

    M. Milà, H. Kruyer, G. Glover, A. Sánchez, P. Carbonell, S. Castellví-Bel… in Human Genetics (1994)