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  1. No Access

    Article

    Wolfram syndrome 1 in the Italian population: genotype–phenotype correlations

    We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype–phenotype correlations.

    Luciana Rigoli, Concetta Aloi, Alessandro Salina, Chiara Di Bella… in Pediatric Research (2020)

  2. Article

    Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

    The original version of this Article erroneously cropped part of the abstract. The abstract has now been corrected to read ‘Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease char...

    Luciana Rigoli, Placido Bramanti, Chiara Di Bella, Filippo De Luca in Pediatric Research (2018)

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  3. Article

    Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

    Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in...

    Luciana Rigoli, Placido Bramanti, Chiara Di Bella, Filippo De Luca in Pediatric Research (2018)

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    Article

    Identification of α-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2

    We analyzed the prevalence of α-thalassemia mutations in 298 subjects from Eastern Sicily (Italy) with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), normal HbA2 and HbF, and normal ...

    Chiara Di Bella, Carmelo Salpietro, Mariangela La Rosa… in Annals of Hematology (2006)

  5. Article

    Angiotensin-Converting Enzyme and Angiotensin Type 2 Receptor Gene Genotype Distributions in Italian Children with Congenital Uropathies

    Angiotensin I–converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene polymorphisms have been associated with an increased incidence of congenital anomalies of the kidney and urinary tract (CAKUT)....

    Luciana Rigoli, Roberto Chimenz, Chiara Di Bella, Emanuela Cavallaro… in Pediatric Research (2004)

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  6. No Access

    Article

    A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting

    Carmelo Damiano Salpietro, Silvana Briuglia… in European Journal of Pediatrics (2003)