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  1. 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)

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    Article

    In the Italian population sexual dimorphism affects pre-natal thyroid migration but not biochemical severity of gland ectopia and pre-natal bone maturation

    The aim of the present study was to retrospectively re-evaluate a population of selected infants with congenital hypothyroidism (CH), in order to investigate whether sexual dimorphism affects: a) CH etiology; ...

    M. Wasniewska, T. Arrigo, G. Crisafulli… in Journal of Endocrinological Investigation (2008)

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    Article

    Subclinical hypothyroidism: The state of the art

    Subclinical hypothyroidism (SH) is a common clinical problem, particularly in adulthood and the elderly. Its prevalence is conditioned by several etiological and risk factors. The highest age- and sex-specific...

    T. Arrigo, M. Wasniewska, G. Crisafulli… in Journal of Endocrinological Investigation (2008)

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    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)

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    Article

    Acute suppurative thyroiditis in childhood: relative frequency among thyroid inflammatory diseases

    M. Wasniewska, M. C. Vigone, M. Cappa… in Journal of Endocrinological Investigation (2007)

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    Article

    In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype

    The spectrum of mutated alleles in non-classical congenital adrenal hyperplasia (NC-CAH) has been recently reported to be very large and haplotypes may significantly differ in the different ethnic groups. In o...

    M. Wasniewska, G. Di Pasquale, I. Rulli… in Journal of Endocrinological Investigation (2007)

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    Article

    Congenital adenohypophysis aplasia: Clinical features and analysis of the transcriptional factors for embryonic pituitary development

    Anterior pituitary agenesis (APA) has very rarely been reported. Therefore, its phenotypical and genotypical features are not well known. The aim of this study was to ascertain whether the clinical picture in ...

    T. Arrigo, M. Wasniewska, F. De Luca MD… in Journal of Endocrinological Investigation (2006)

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    Article

    Increased liver enzymes and hormonal therapies in girls and adolescents with Turner syndrome

    Elevated liver enzymes can be seen relatively frequently in patients with Turner syndrome (TS), while the pathogenesis of this remains unclear. Our epidemiological and prospective study aimed to investigate: a...

    M. Wasniewska, R. Bergamaschi, P. Matarazzo… in Journal of Endocrinological Investigation (2005)

  9. No Access

    Article

    Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with a novel mutation of CYP21 gene (Q481P)

    G. Di Pasquale, M. Wasniewska, M. Caruso… in Journal of Endocrinological Investigation (2005)

  10. No Access

    Article

    Fistulectomy may not be the first choice treatment in a child with recurrent suppurative thyroiditis

    C. Ruggeri, M. Wasniewska, L. Carcione… in Journal of Endocrinological Investigation (2004)

  11. No Access

    Article

    Three-year prospective evaluation of glucose tolerance, β-cell function and peripheral insulin sensitivity in non-diabetic patients with thalassemia major

    The aim of this prospective study was to evaluate the evolution of glucose tolerance (GT), insulin secretion and peripheral insulin sensitivity during a 3-yr follow-up in a homogenous population consisting of ...

    M. F. Messina, F. Lombardo, A. Meo, M. Miceli… in Journal of Endocrinological Investigation (2002)

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    Article

    Effects of Hormonal Replacement Therapy on Bone Metabolism in Young Adults with Beta-thalassemia Major

    The aim of our cross-sectional study was to evaluate the effects of hormonal replacement therapy (HRT) on a population of young thalassemics in order to understand better the role of hypogonadism in the balan...

    A. Lasco, N. Morabito, A. Gaudio, M. Buemi, M. Wasniewska… in Osteoporosis International (2001)

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    Article

    Liver dysfunction associated with congenital hypopituitarism

    T. Arrigo, M. Wasniewska, L. Ghizzoni… in Journal of Endocrinological Investigation (2000)

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