Emanuele Miraglia del Giudice

Summary

Affiliation: Second University of Naples
Country: Italy

Publications

  1. doi request reprint Hepcidin in obese children as a potential mediator of the association between obesity and iron deficiency
    Emanuele Miraglia del Giudice
    Department of Pediatrics F Fede Seconda Università degli Studi di Napoli, Napoli, Italy
    J Clin Endocrinol Metab 94:5102-7. 2009
  2. ncbi request reprint Molecular screening of the ghrelin gene in Italian obese children: the Leu72Met variant is associated with an earlier onset of obesity
    E Miraglia del Giudice
    Department of Pediatrics, Second University of Napoli, Napoli, Italy
    Int J Obes Relat Metab Disord 28:447-50. 2004
  3. ncbi request reprint Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity
    E Miraglia del Giudice
    Dipartimento de Pediatria, Seconda Universita di Napoli, Napoli, Italy
    Int J Obes Relat Metab Disord 26:647-51. 2002
  4. ncbi request reprint Clinical and molecular evaluation of non-dominant hereditary spherocytosis
    E Miraglia del Giudice
    Dipartimento di Paediatria, Seconda Universita degli Studi di Napoli, Napoli, Italy
    Br J Haematol 112:42-7. 2001
  5. ncbi request reprint Molecular screening of the proopiomelanocortin (POMC ) gene in Italian obese children: report of three new mutations
    E Miraglia del Giudice
    Department of Pediatrics, Second University of Naples, Via S Andrea delle Dame no 4, 80138 Napoli, Italy
    Int J Obes Relat Metab Disord 25:61-7. 2001
  6. ncbi request reprint Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family
    E M del Giudice
    Department of Pediatrics, Second University of Naples, Naples, Italy
    Diabetes 50:2157-60. 2001
  7. ncbi request reprint Inadequate leptin level negatively affects body fat loss during a weight reduction programme for childhood obesity
    del Giudice E Miraglia
    Department of Paediatrics, Second University of Naples, Italy
    Acta Paediatr 91:132-5. 2002
  8. pmc The association of PNPLA3 variants with liver enzymes in childhood obesity is driven by the interaction with abdominal fat
    Emanuele Miraglia del Giudice
    Department of Pediatrics, Seconda Universita degli Studi di Napoli, Napoli, Italy
    PLoS ONE 6:e27933. 2011
  9. doi request reprint Y2 receptor gene variants reduce the risk of hypertension in obese children and adolescents
    Nicola Santoro
    Department of Pediatrics, Monaldi Hospital, Second University of Naples, Naples, Italy
    J Hypertens 26:1590-4. 2008
  10. ncbi request reprint Effect of the melanocortin-3 receptor C17A and G241A variants on weight loss in childhood obesity
    Nicola Santoro
    Department of Pediatrics F Fede, Seconda Universita degli Studi di Napoli, Napoli, Italy
    Am J Clin Nutr 85:950-3. 2007

Collaborators

Detail Information

Publications37

  1. doi request reprint Hepcidin in obese children as a potential mediator of the association between obesity and iron deficiency
    Emanuele Miraglia del Giudice
    Department of Pediatrics F Fede Seconda Università degli Studi di Napoli, Napoli, Italy
    J Clin Endocrinol Metab 94:5102-7. 2009
    ..Hepcidin represents the main inhibitor of intestinal iron absorption, and its expression is increased in adipose tissue of obese patients. Leptin is able, in vitro, to raise hepcidin expression...
  2. ncbi request reprint Molecular screening of the ghrelin gene in Italian obese children: the Leu72Met variant is associated with an earlier onset of obesity
    E Miraglia del Giudice
    Department of Pediatrics, Second University of Napoli, Napoli, Italy
    Int J Obes Relat Metab Disord 28:447-50. 2004
    ..To test whether ghrelin variants could play a role in modulating some aspects of the obese phenotype during childhood...
  3. ncbi request reprint Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity
    E Miraglia del Giudice
    Dipartimento de Pediatria, Seconda Universita di Napoli, Napoli, Italy
    Int J Obes Relat Metab Disord 26:647-51. 2002
    ..Melanocortin-4 receptor (MC4R) mutations have been reported as the most common single genetic cause of obesity in some populations and it has been suggested that they may be responsible for more than 4% of early-onset obesity...
  4. ncbi request reprint Clinical and molecular evaluation of non-dominant hereditary spherocytosis
    E Miraglia del Giudice
    Dipartimento di Paediatria, Seconda Universita degli Studi di Napoli, Napoli, Italy
    Br J Haematol 112:42-7. 2001
    ..These results should be considered in view of the genetic counselling of a normal couple with a HS child...
  5. ncbi request reprint Molecular screening of the proopiomelanocortin (POMC ) gene in Italian obese children: report of three new mutations
    E Miraglia del Giudice
    Department of Pediatrics, Second University of Naples, Via S Andrea delle Dame no 4, 80138 Napoli, Italy
    Int J Obes Relat Metab Disord 25:61-7. 2001
    ..Although linkage studies strongly suggest that proopiomelanocortin (POMC) alterations could play a role in the genetic predisposition to obesity, systematic POMC mutational analysis did not completely confirm this hypothesis...
  6. ncbi request reprint Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family
    E M del Giudice
    Department of Pediatrics, Second University of Naples, Naples, Italy
    Diabetes 50:2157-60. 2001
    ..The Leu34Phe mutation might alter the susceptibility to proteolysis of this potential processing site, likely altering the CART effect on thermogenesis and energy expenditure...
  7. ncbi request reprint Inadequate leptin level negatively affects body fat loss during a weight reduction programme for childhood obesity
    del Giudice E Miraglia
    Department of Paediatrics, Second University of Naples, Italy
    Acta Paediatr 91:132-5. 2002
    ..The effectiveness of this programme was decreased in patients with relative hyperleptinaemia or hypoleptinaemia compared to children with baseline leptin levels appropriate to BMI gender and pubertal development...
  8. pmc The association of PNPLA3 variants with liver enzymes in childhood obesity is driven by the interaction with abdominal fat
    Emanuele Miraglia del Giudice
    Department of Pediatrics, Seconda Universita degli Studi di Napoli, Napoli, Italy
    PLoS ONE 6:e27933. 2011
    ....
  9. doi request reprint Y2 receptor gene variants reduce the risk of hypertension in obese children and adolescents
    Nicola Santoro
    Department of Pediatrics, Monaldi Hospital, Second University of Naples, Naples, Italy
    J Hypertens 26:1590-4. 2008
    ..To verify whether peptide YY (PYY) and its Y2 receptor (Y2R) gene variants can be associated with obesity or hypertension or both in a cohort of obese children and adolescents...
  10. ncbi request reprint Effect of the melanocortin-3 receptor C17A and G241A variants on weight loss in childhood obesity
    Nicola Santoro
    Department of Pediatrics F Fede, Seconda Universita degli Studi di Napoli, Napoli, Italy
    Am J Clin Nutr 85:950-3. 2007
    ..Melanocortin-3 receptor (MC3R) knock-out mice, despite being hypophagic, have increased fat mass and higher feed efficiency than do their wild-type littermates...
  11. ncbi request reprint Atrial myocardial deformation properties in obese nonhypertensive children
    Giovanni Di Salvo
    Second University of Naples, Naples, Italy
    J Am Soc Echocardiogr 21:151-6. 2008
    ....
  12. ncbi request reprint An insertional polymorphism of the proopiomelanocortin gene is associated with fasting insulin levels in childhood obesity
    Nicola Santoro
    Department of Pediatrics, Second University of Naples, 80138 Napoli, Italy
    J Clin Endocrinol Metab 89:4846-9. 2004
    ....
  13. doi request reprint Effect of the rs997509 polymorphism on the association between ectonucleotide pyrophosphatase phosphodiesterase 1 and metabolic syndrome and impaired glucose tolerance in childhood obesity
    Nicola Santoro
    Dipartimento di Pediatria, Seconda Universita di Napoli, Via Luigi De Crecchio No 2, 80138 Napoli, Italy
    J Clin Endocrinol Metab 94:300-5. 2009
    ....
  14. pmc Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity
    Nicola Santoro
    Dipartimento di Pediatria F, Fede, Seconda Universita degli Studi di Napoli, Napoli, Italy
    BMC Med Genet 10:25. 2009
    ..To verify whether MC4R mutations are associated with this particular phenotype in the Italian pediatric population, we decided to screen the MC4R gene in a group of obese children selected on the basis of their phenotype...
  15. doi request reprint The cannabinoid receptor type 2 Q63R variant increases the risk of celiac disease: implication for a novel molecular biomarker and future therapeutic intervention
    Francesca Rossi
    Department of Pediatrics, Second University of Naples, 80138 Naples, Italy
    Pharmacol Res 66:88-94. 2012
    ..Indeed, we provide here further evidence that CB2 receptor plays a critical role in autoimmunity susceptibility and indicates that it represents a molecular target to pharmacologically modulate the immune components in CD...
  16. doi request reprint Early left ventricular abnormalities in children with heterozygous familial hypercholesterolemia
    Giovanni Di Salvo
    Second University of Naples, Monaldi Hospital, Via Omodeo 45, Naples, Italy
    J Am Soc Echocardiogr 25:1075-82. 2012
    ..The aim of this study was to define in children with FH the preclinical effects of isolated hypercholesterolemia on the cardiovascular system by examining left ventricular (LV) function using speckle-tracking echocardiography...
  17. pmc Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia
    Pierluigi Marzuillo
    Department of Pediatrics F, Fede, Seconda Universita degli Studi di Napoli, Via Luigi De Crecchio 2, 80138, Napoli, Italy
    BMC Med Genet 14:28. 2013
    ..The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%)...
  18. ncbi request reprint No evidence for association between dyslexia and DYX1C1 functional variants in a group of children and adolescents from Southern Italy
    Giulia Bellini
    Chair of Child Neuropsychiatry, Department of Pediatrics, Second University of Naples, Naples, Italy
    J Mol Neurosci 27:311-4. 2005
    ..We argue that the different DYX1C1 allele frequencies shown among Italian and Finnish subjects with dyslexia could be attributable to the different linkage disequilibrium structure of these populations...
  19. ncbi request reprint Melanocortin-4 receptor molecular scanning and pro-opiomelanocortin R236G variant screening in binge eating disorder
    Alfonso Tortorella
    Department of Psychiatry, University of Naples SUN, Naples, Italy
    Psychiatr Genet 15:161. 2005
  20. pmc Thyroid function derangement and childhood obesity: an Italian experience
    Anna Grandone
    Department of Pediatrics F, Fede, Seconda Universita degli Studi di Napoli, Via Luigi De Crecchio 2, 80138, Napoli, Italy
    BMC Endocr Disord 10:8. 2010
    ....
  21. doi request reprint Prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: two years' treatment with anastrozole and genetic study
    Anna Grandone
    Department of Pediatrics F Fede, Seconda Universita degli Studi di Napoli, Naples, Italy
    Horm Res Paediatr 75:374-9. 2011
    ....
  22. ncbi request reprint Waist circumference predicts the occurrence of sleep-disordered breathing in obese children and adolescents: a questionnaire-based study
    Marco Carotenuto
    Clinic of Child and Adolescent Neuropsychiatry, Second University of Naples, Via Luigi Pansini no 5 PAD XI, 80131 Naples, Italy
    Sleep Med 7:357-61. 2006
    ..To assess the presence of sleep-disordered breathing (SDB) in a population of obese children and adolescents and to investigate the role of fat distribution in predicting SDB...
  23. doi request reprint Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures
    Francesco Miceli
    Division of Pharmacology, Department of Neuroscience, University of Naples Federico II, Naples, Italy
    Neurobiol Dis 34:501-10. 2009
    ..2 D212G increased cell firing frequency, thereby triggering the neuronal hyperexcitability which underlies the observed neonatal epileptic condition...
  24. doi request reprint Familial trisomy 6p in mother and daughter
    Marco Savarese
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Napoli, Italy
    Am J Med Genet A 161:1675-81. 2013
    ..31. The phenotype of a pure partial trisomy 6p is extremely heterogeneous depending on the gene contents of the duplicated region. The clinical features of our patients have been compared with overlapping cases from the literature...
  25. pmc Cannabinoid receptor type 2 functional variant influences liver damage in children with non-alcoholic fatty liver disease
    Francesca Rossi
    Department of Pediatrics, Second University of Naples, Naples, Italy
    PLoS ONE 7:e42259. 2012
    ..02).Our findings suggest a critical role for CB2 Q63R variant in modulating hepatic inflammation state in obese children and in the consequent increased predisposition of these patients to liver damage...
  26. ncbi request reprint Abnormal myocardial deformation properties in obese, non-hypertensive children: an ambulatory blood pressure monitoring, standard echocardiographic, and strain rate imaging study
    Giovanni Di Salvo
    Second University of Naples, Via Omodeo 45, Naples 80128, Italy
    Eur Heart J 27:2689-95. 2006
    ....
  27. ncbi request reprint Pontine myelinolysis in a child with carbamate poisoning
    Raffaele Santinelli
    Department of Pediatrics, Second University of Naples, Italy
    Clin Toxicol (Phila) 44:327-8. 2006
    ..Various underlying and concomitant diseases have been described in children with central pontine myelinolysis but, to our knowledge, the finding of pontine myelinolysis after carbamate poisoning has not yet been described...
  28. ncbi request reprint Weight loss in obese children carrying the proopiomelanocortin R236G variant
    N Santoro
    Department of Pediatrics F Fede, Second University of Naples, 80138 Naples, Italy
    J Endocrinol Invest 29:226-30. 2006
    ....
  29. ncbi request reprint Adolescents carrying a missense mutation in the CART gene exhibit increased anxiety and depression
    E Miraglia del Giudice
    Department of Pediatrics, Second University of Naples, Naples, Italy
    Depress Anxiety 23:90-2. 2006
    ..This study shows that a small group of adolescents with the mutation exhibit higher anxiety and depression scores than control subjects...
  30. ncbi request reprint Hyperekplexia caused by dominant-negative suppression of glyra1 function
    G Bellini
    Department of Pediatrics, 2nd University of Naples, Naples, Italy
    Neurology 68:1947-9. 2007
  31. ncbi request reprint Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential
    S Perrotta
    Department of Paediatrics, Second University of Naples, Italy
    Br J Haematol 89:933-6. 1995
    ..Utilizing a secondary structure predictive method we suggest that this mutation has a poor capability to induce conformational changes of the tetramerization site and thus shows a moderate elliptocytogenic potential...
  32. ncbi request reprint Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer
    K E Sahr
    Department of Biomedical Research, St Elizabeth s Hospital of Boston, Tufts University School of Medicine, Massachusetts 02135
    J Biol Chem 268:22656-62. 1993
    ....
  33. ncbi request reprint Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus
    E Miraglia del Giudice
    Dipartimento di Pediatria, Seconda Universita degli Studi di Napoli, Italy
    Br J Haematol 96:70-6. 1997
    ..Nor did it show any alteration in the exons of the two ANK1 alleles, and the aggravating factor remained elusive. The D38A alteration should be regarded as an innocuous polymorphism...
  34. ncbi request reprint Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor
    E Miraglia del Giudice
    Department of Pediatrics, Second University of Naples, Italy
    Eur J Hum Genet 8:994-7. 2000
    ..R214W represents the first mutation involving the region of the voltage sensor...
  35. pmc Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions
    D Concolino
    J Med Genet 39:214-6. 2002
  36. ncbi request reprint A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes
    G Coppola
    Department of Child Neuropsychiatry, 2nd University of Naples, Italy
    Neurology 61:131-4. 2003
    ..Electrophysiologic studies showed that mutant K+ channel subunits failed to give rise to functional homomeric channels or exert dominant-negative effects when expressed with KCNQ2/KCNQ3 subunits...
  37. ncbi request reprint Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis
    A Iolascon
    Dipartimento di Pediatria, Clinica Pediatrica Ia, Universita, Napoli, Italy
    Haematologica 77:60-72. 1992
    ..This paper will review the effects of recent advances upon: cytoskeleton structure and assembly; molecular pathology of spherocytosis, elliptocytosis and pyropoikilocytosis...