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  1. 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)

  2. 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)

  3. 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)

  4. 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)

  5. 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)