Daniela Melis

Summary

Country: Italy

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi 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
  9. 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
  10. ncbi 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

Collaborators

  • Annamaria Colao
  • Mariacarolina Salerno
  • Rosario Pivonello
  • Lidia Larizza
  • Enrica Riva
  • Roberto Berni Canani
  • Mattia Gentile
  • Silvia Russo
  • Giovanni Battista Ferrero
  • Alessandro Mussa
  • Anna Sarkozy
  • Carolina Di Somma
  • R Parini
  • Lucio Santoro
  • R Gatti
  • G M S Mancini
  • Generoso Andria
  • Gaetano Terrone
  • Lucia Micale
  • Rita Genesio
  • Maria Tufano
  • Giuseppe Limongelli
  • Gianfranco Sebastio
  • Massimiliano Rossi
  • Massimo Carella
  • Ennio Del Giudice
  • Iolanda Parente
  • Alessandra D'Amico
  • Floriana Imperati
  • Orazio Palumbo
  • Marina Riccitelli
  • Alfonso Romano
  • Maria G Patricelli
  • Lucio Nitsch
  • Angelo Selicorni
  • Francesca Forzano
  • Anna Conti
  • Carmela Fusco
  • Licia Turolla
  • Leopoldo Zelante
  • Aldo Bonfante
  • Alexandre Reymond
  • Teresa Mattina
  • Giuseppe Merla
  • Ambra Lanzo
  • Gioacchino Scarano
  • Paola Ferrari
  • Maria A Mencarelli
  • Bruno Dallapiccola
  • Matteo Della Monica
  • Livia Garavelli
  • Maurizio Clementi
  • Benedetta Toschi
  • Maria C Digilio
  • Valentina Ronga
  • Bartolomeo Augello
  • Alessandra Renieri
  • Alessia Calcagnì
  • Adriana Zatterale
  • Maria N Loviglio
  • Maria Accadia
  • Maurizio D'Esposito
  • Gerarda Cappuccio
  • Cecilia Daolio
  • Manuela Priolo
  • Alessandra Vancini
  • Sofia Douzgou
  • Elisabetta Lapi
  • Maria R Matarazzo
  • Sole Gatto
  • Elga Belligni
  • Barbara Gumiero
  • Antonella Izzo
  • Paolo Prontera
  • Federica Zucchetti
  • Francesca Faravelli
  • Rita Fischetto
  • Orazio Gabrielli
  • Margherita Cirillo Silengo
  • Ester V D'Addetta
  • Maria Immacolata Spagnuolo
  • Giuliano Torre
  • Claudia Della Corte
  • Manila Candusso
  • Raffaele Iorio
  • Francesco Cirillo
  • Giuseppe Pacileo
  • Maria Cristina Digilio
  • Valeria Maddaloni
  • Giovanni Capozzi

Detail Information

Publications17

  1. 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...
  2. 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...
  3. 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
    ..The absence of detectable mutations in three patients could suggest that a second protein plays a role in microsomal phosphate transport...
  4. 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...
  5. ncbi 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...
  6. ncbi 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)...
  7. ncbi 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...
  8. ncbi 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...
  9. 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)...
  10. ncbi 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...
  11. ncbi Brain damage in glycogen storage disease type I
    Daniela Melis
    Department of Pediatrics, , Naples, Italy
    J Pediatr 144:637-42. 2004
    ..05). CONCLUSIONS: Brain damage, probably caused by recurrent severe hypoglycemia, may be present in patients with GSDI...
  12. ncbi 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...
  13. ncbi 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)...
  14. ncbi 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...
  15. ncbi 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...
  16. ncbi 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
  17. 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...