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  1. No Access

    Article

    Early hypertension and prolonged mineralocorticoid therapy discontinuation in a child with salt-wasting 21-hydroxylase deficiency

    M. Wasniewska, M. Valenzise, T. Aversa… in Journal of Endocrinological Investigation (2011)

  2. No Access

    Article

    Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region

    M. Wasniewska, G. Raiola, A. Nicoletti… in Journal of Endocrinological Investigation (2010)

  3. No Access

    Article

    Novel mutation of CYP21A2 gene (N387K) affecting a non-conserved amino acid residue in exon 9

    M. Wasniewska, S. Mirabelli, L. Baldazzi… in Journal of Endocrinological Investigation (2009)

  4. No Access

    Article

    Salt-wasting congenital adrenal hyperplasia: Genotypical peculiarities in a Sicilian ethnic group

    Here we report for the first time the results of the molecular study of 17 unrelated patients with salt-wasting (SW) congenital adrenal hyperplasia (CAH) belonging to a Sicilian ethnic group, as corroborated b...

    M. Wasniewska, M. Caruso, S. Indovina… in Journal of Endocrinological Investigation (2008)

  5. No Access

    Article

    Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl

    L. Di Pasquale, S. Indovina, M. Wasniewska… in Journal of Endocrinological Investigation (2007)