Daniela Melis

Summary

Country: Italy

Publications

  1. pmc Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
    Daniela Melis
    Department of Paediatrics, Federico II University, Naples, Italy
    Ital J Pediatr 38:65. 2012
  2. ncbi Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    Clin Dysmorphol 15:13-8. 2006
  3. ncbi NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic
    D Melis
    Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
    J Inherit Metab Dis 27:725-33. 2004
  4. ncbi Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature
    Daniela Melis
    Dipartimento di Pediatria, Universita Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy
    Eur J Pediatr 164:501-8. 2005
  5. ncbi Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study
    D Melis
    Dipartimento di Pediatria, Universita Federico II, Napoli, Italy
    Clin Endocrinol (Oxf) 63:19-25. 2005
  6. pmc Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
    Lucia Micale
    Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 6:38. 2011
  7. doi The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    J Pediatr 156:663-70.e1. 2010
  8. doi Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review
    Gerarda Cappuccio
    Department of Translational Medical Sciences, Federico II University, Naples, Italy
    Am J Med Genet A 164:753-9. 2014
  9. doi Clinical description of a patient carrying the smallest reported deletion involving 10p14 region
    Daniela Melis
    Department of Paediatrics, Federico II University, Naples, Italy
    Am J Med Genet A 158:832-5. 2012
  10. doi Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene
    Gerarda Cappuccio
    Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
    BMC Med Genet 15:15. 2014

Collaborators

Detail Information

Publications24

  1. pmc Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
    Daniela Melis
    Department of Paediatrics, Federico II University, Naples, Italy
    Ital J Pediatr 38:65. 2012
    ..This feature probably has been underreported for the limited follow-up of the patients. Echocardiography might be warranted in the clinical assessment of EDS VII patients...
  2. ncbi Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    Clin Dysmorphol 15:13-8. 2006
    ..We suggest analysing a fibroblast karyotype when a diagnosis of 13q- syndrome is suspected on clinical ground. The role of teratogens in causing this type of mosaic chromosome abnormality also warrants further investigation...
  3. ncbi NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic
    D Melis
    Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
    J Inherit Metab Dis 27:725-33. 2004
    ..Our results do not confirm the hypothesis that this gene is mutated in GSD Ic patients. However, we cannot exclude that the mutation found reduces the phosphate transport efficiency, possibly modulating the G6-Pase complex...
  4. ncbi Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature
    Daniela Melis
    Dipartimento di Pediatria, Universita Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy
    Eur J Pediatr 164:501-8. 2005
    ..In three patients no mutations were detected...
  5. ncbi Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study
    D Melis
    Dipartimento di Pediatria, Universita Federico II, Napoli, Italy
    Clin Endocrinol (Oxf) 63:19-25. 2005
    ..The efficacy of ACE-inhibitors in decreasing microalbuminuria and proteinuria has been reported in a few patients with glycogen storage disease type 1 (GSD1); however, no case-control study has ever been published...
  6. pmc Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
    Lucia Micale
    Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 6:38. 2011
    ..Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause...
  7. doi The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    J Pediatr 156:663-70.e1. 2010
    ..To investigate the growth hormone (GH)-insulin-like growth factor (IGF) system in patients with glycogen storage disease type 1 (GSD1)...
  8. doi Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review
    Gerarda Cappuccio
    Department of Translational Medical Sciences, Federico II University, Naples, Italy
    Am J Med Genet A 164:753-9. 2014
    ..We speculate that the disruption of regulatory elements mapping upstream CYP11B2 involved in the deleted region could cause hyperreninemia...
  9. doi Clinical description of a patient carrying the smallest reported deletion involving 10p14 region
    Daniela Melis
    Department of Paediatrics, Federico II University, Naples, Italy
    Am J Med Genet A 158:832-5. 2012
    ..We also underline the importance of CGH-array, in order to obtain a more precise physical mapping of the 10p deletions and an accurate genotype-phenotype correlation...
  10. doi Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene
    Gerarda Cappuccio
    Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
    BMC Med Genet 15:15. 2014
    ..To date, this is the first report of left-bronchial isomerism in association with KS...
  11. doi Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity
    Daniela Melis
    Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via S, Pansini 5, 80131 Naples, Italy
    Ital J Pediatr 40:30. 2014
    ..Here we describe the occurrence of autoimmune endocrine disorders including thyroiditis and growth hormone deficiency, in a patient affected by GSD1b. This case further supports the association between GSD1b and autoimmune diseases. ..
  12. doi Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    Clin Dysmorphol 21:27-32. 2012
    ..2002; Novelli et al., 2005; Vraneković et al., 2008). Herein, we report the phenotype and molecular cytogenetic analysis in a patient with the smallest de-novo constitutional ring extended from the p12 to q12 region of chromosome 19...
  13. ncbi Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    J Pediatr 150:300-5, 305.e1. 2007
    ..To investigate the hypothalamus-pituitary-thyroid axis in patients with glycogen storage disease type 1(GSD1)...
  14. doi Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene
    Paolo Fontana
    Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy Electronic address
    Gene 538:69-73. 2014
    ..The multiple chromosomal rearrangements detected in the current patient can be ascribed to an event of constitutional chromothripsis. ..
  15. doi Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype
    Rita Genesio
    Cellular and Molecular Biology and Pathology Department University of Naples Federico II, Naples, Italy
    Epigenetics 6:1242-7. 2011
    ..In conclusion, the study provides new insight into long-range gene silencing mechanisms and their direct impact in human disease...
  16. doi Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22
    Daniela Melis
    Department of Paediatrics, Federico II University, Naples, Italy
    Am J Med Genet A 155:1697-705. 2011
    ..The present report underlines also the importance of array-CGH in characterizing patients with a complex phenotype...
  17. pmc Good cognitive performances in a child with Prader-Willi syndrome
    Rosa Nugnes
    Department of Translational Medical Sciences, Federico II University of Naples, Italy, Via Pansini, 5 80131 Naples, Italy
    Ital J Pediatr 39:74. 2013
    ..In conclusion, in presence of consisting clinical features of PWS and high diagnostic suspicion, the diagnosis of PWS should be considered even in presence of a borderline IQ and in absence of psychopathological abnormalities. ..
  18. ncbi Brain damage in glycogen storage disease type I
    Daniela Melis
    Department of Pediatrics, Universita Federico II, Naples, Italy
    J Pediatr 144:637-42. 2004
    ..To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI)...
  19. doi A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients
    Gaetano Terrone
    Department of Pediatrics, Federico II University, via Pansini N 5, Naples, Italy
    Eur J Med Genet 55:466-71. 2012
    ..This malformation should be considered in patients with the 17q21.31 microdeletion syndrome, presenting suggestive symptoms (headache, neck pain, cerebellar signs or muscle weakness)...
  20. doi Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association
    Maria Tufano
    Pediatric Liver Unit, Department of Pediatrics, University of Naples Federico II, Via S Pansini 5, 80131 Naples, Italy
    Eur J Pediatr 168:225-7. 2009
    ..This is the first case of fulminant autoimmune hepatitis associated with the 22q13 deletion syndrome. The possible relationships between immune system dysfunctions peculiar of this syndrome and autoimmune hepatitis are discussed...
  21. doi Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome
    Alessandro Mussa
    Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126, Torino, Italy
    Pediatr Nephrol 27:397-406. 2012
    ..9% of patients, with two resulting in life-threatening sepsis. Hypercalciuria was present in 10% of cases. 55.5% of BWS patients have renal findings. Although variegate, these anomalies disclose a genotype-phenotype correlation...
  22. doi Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman
    Giuseppe Limongelli
    Department of Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy
    Am J Med Genet A 146:327-9. 2008
  23. ncbi A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)
    Massimiliano Rossi
    Department of Pediatrics, Federico II University, Naples, Italy
    Clin Dysmorphol 14:13-8. 2005
    ..This family contributes to the delineation of the clinical and radiological phenotype of this rare condition...
  24. doi Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings
    Enza Mozzillo
    Department of Pediatrics, Federico II University of Naples, Naples, Italy
    Pediatr Diabetes 14:384-7. 2013
    ..Non-autoimmune diabetes associated with deafness and macrocytosis, without anemia, suggests a diagnosis of TRMA. Patients clinically diagnosed with WS with anemia and/or macrocytosis should be reevaluated for TRMA. ..