Maria Piccione

Summary

Country: Italy

Publications

  1. ncbi request reprint Abnormalities of the umbilico-portal venous system in Down syndrome: a report of two new patients
    Salvatore Pipitone
    Division of Cardiology and Prenatal Heart Diagnosis Program, Casa del Sole Hospital, Palermo, Italy
    Am J Med Genet A 120:528-32. 2003
  2. ncbi request reprint Perlman syndrome: clinical report and nine-year follow-up
    Maria Piccione
    U O Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Universita degli Studi di Palermo, Italy
    Am J Med Genet A 139:131-5. 2005
  3. doi request reprint 10qter deletion: a new case
    Maria Piccione
    Dipartimento Materno Infantile, Universita di Palermo, Palermo, Italy
    Am J Med Genet A 146:2435-8. 2008
  4. doi request reprint Sex reversal from functional disomy of Xp: prenatal and post-mortem findings
    Maria Piccione
    U O Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Universita degli Studi di Palermo, Palermo, Italy
    Am J Med Genet A 146:2681-7. 2008
  5. doi request reprint Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation
    Maria Piccione
    U O Pediatria e TIN Dipartimento Materno Infantile, Università degli Studi di Palermo via Alfonso Giordano 3, 90127 Palermo, Italy
    Eur J Med Genet 55:238-44. 2012
  6. doi request reprint 4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization
    Maria Piccione
    Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy Electronic address
    Eur J Paediatr Neurol 19:477-83. 2015
  7. doi request reprint Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis
    Maria Piccione
    Dipartimento Materno Infantile, Universita di Palermo, Palermo, Italy
    Am J Med Genet A 158:150-4. 2012
  8. doi request reprint 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly
    Maria Piccione
    Centro di Riferimento Regionale per la Sindrome di Down e le Altre Patologie Cromosomiche e Genetiche Azienda Ospedaliera Ospedali Riuniti Villa Sofia Cervello, Palermo, Italy
    Am J Med Genet A 158:1427-33. 2012
  9. ncbi request reprint A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus
    M Piccione
    Operative Unit of Pediatrics and Neonatal Intensive Therapy, Mother and Child Department, University of Palermo, Palermo, Italy
    Minerva Pediatr 64:59-64. 2012
  10. doi request reprint A premature infant with Costello syndrome due to a rare G13C HRAS mutation
    Maria Piccione
    U O Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Universita degli Studi di Palermo, Palermo, Italy
    Am J Med Genet A 149:487-9. 2009

Collaborators

Detail Information

Publications23

  1. ncbi request reprint Abnormalities of the umbilico-portal venous system in Down syndrome: a report of two new patients
    Salvatore Pipitone
    Division of Cardiology and Prenatal Heart Diagnosis Program, Casa del Sole Hospital, Palermo, Italy
    Am J Med Genet A 120:528-32. 2003
    ..A presumptive pathogenetic mechanism could be a trisomy 21-related altered angiogenesis of the vitelloumbilical plexus...
  2. ncbi request reprint Perlman syndrome: clinical report and nine-year follow-up
    Maria Piccione
    U O Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Universita degli Studi di Palermo, Italy
    Am J Med Genet A 139:131-5. 2005
    ..A Wilm's tumor was diagnosed when she was about 1 year old. Long term follow-up documents the natural history of Perlman syndrome and allows us to establish the long-term prognosis of the affected individuals...
  3. doi request reprint 10qter deletion: a new case
    Maria Piccione
    Dipartimento Materno Infantile, Universita di Palermo, Palermo, Italy
    Am J Med Genet A 146:2435-8. 2008
  4. doi request reprint Sex reversal from functional disomy of Xp: prenatal and post-mortem findings
    Maria Piccione
    U O Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Universita degli Studi di Palermo, Palermo, Italy
    Am J Med Genet A 146:2681-7. 2008
    ..To the best of our knowledge, this is the first description of an XY fetus with a pure duplication of the entire short arm of X chromosome...
  5. doi request reprint Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation
    Maria Piccione
    U O Pediatria e TIN Dipartimento Materno Infantile, Università degli Studi di Palermo via Alfonso Giordano 3, 90127 Palermo, Italy
    Eur J Med Genet 55:238-44. 2012
    ..1 microdeletion a de novo deletion in Xq28 was detected. Both individuals shared dysmorphic features and developmental delay with the six reported patients with a 2p15p16.1 microdeletion described in medical literature...
  6. doi request reprint 4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization
    Maria Piccione
    Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy Electronic address
    Eur J Paediatr Neurol 19:477-83. 2015
    ....
  7. doi request reprint Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis
    Maria Piccione
    Dipartimento Materno Infantile, Universita di Palermo, Palermo, Italy
    Am J Med Genet A 158:150-4. 2012
    ..Our result suggests that the genes in this region may not be obvious candidates for hearing loss and demonstrate the need for further elucidation of the function of the genes involved in eye developmental processes...
  8. doi request reprint 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly
    Maria Piccione
    Centro di Riferimento Regionale per la Sindrome di Down e le Altre Patologie Cromosomiche e Genetiche Azienda Ospedaliera Ospedali Riuniti Villa Sofia Cervello, Palermo, Italy
    Am J Med Genet A 158:1427-33. 2012
    ..The inclusion of potential HPE candidate genes in the deletion raises the question whether this patient is affected by a less severe form of HPE (HPE microform), or whether he has a new ID/MCA deletion syndrome...
  9. ncbi request reprint A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus
    M Piccione
    Operative Unit of Pediatrics and Neonatal Intensive Therapy, Mother and Child Department, University of Palermo, Palermo, Italy
    Minerva Pediatr 64:59-64. 2012
    ..Finally, this report can give useful information about the genetic basis of KC and HED. Future studies will allow us to understand if a genetic bond exists between them...
  10. doi request reprint A premature infant with Costello syndrome due to a rare G13C HRAS mutation
    Maria Piccione
    U O Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Universita degli Studi di Palermo, Palermo, Italy
    Am J Med Genet A 149:487-9. 2009
    ..The diagnosis of Costello syndrome may be difficult at birth, especially in very preterm infants in whom feeding difficulties, reduced subcutaneous adipose tissue and failure to thrive are also part of their typical presentation...
  11. doi request reprint Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome
    Maria Piccione
    Dipartimento Materno Infantile, Universita di Palermo, Via Cardinale Rampolla 1, Palermo 90142, Italy
    Eur J Pediatr 168:1135-9. 2009
    ..In this paper, we propose the concept that these disorders may represent one genetic condition with phenotypic variability...
  12. doi request reprint The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication
    Maria Piccione
    Dipartimento Materno Infantile, Universita di Palermo, Palermo, Italy
    Am J Med Genet A 155:3054-9. 2011
    ..2 microduplications should be considered...
  13. doi request reprint A novel L1CAM mutation in a fetus detected by prenatal diagnosis
    Maria Piccione
    U O Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Universita degli Studi di Palermo, Palermo, Italy
    Eur J Pediatr 169:415-9. 2010
    ..We agree with previous reports that suggest also considering limb abnormalities other than adducted thumbs in addition to classical neurological disgenesis, as characteristic for L1-disease...
  14. doi request reprint Array CGH defined interstitial deletion on chromosome 14: a new case
    Maria Piccione
    Dipartimento Materno Infantile, Universita di Palermo, Via Cardinale Rampolla 1, 90142, Palermo, Italy
    Eur J Pediatr 169:845-51. 2010
    ..The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up...
  15. pmc Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?
    Simona La Placa
    Department of Sciences for Health Promotion and Mother and Child Care, Universita di Palermo, Via Alfonso Giordano 3, 90127 Palermo, Italy
    Ital J Pediatr 39:45. 2013
    ..It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies...
  16. ncbi request reprint Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q
    Mario Giuffrè
    Dipartimento Materno Infantile, University of Palermo, Via Cardinale Rampolla 1, 90142 Palermo, Italy
    Am J Med Genet A 126:186-90. 2004
    ..The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q...
  17. doi request reprint PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol
    Maria Piccione
    Department of Sciences for Health Promotion and Mother and Child Care Giuseppe D Alessandro, University of Palermo, Palermo, Italy
    Am J Med Genet A 161:2902-8. 2013
    ..In this study, we report on two cases with Bannayan-Riley-Ruvalcaba phenotype that showed two different PTEN mutations. We also propose practice recommendations for management of PHTS patients...
  18. pmc Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery
    Ettore Piro
    Department of Sciences for Health Promotion and Mother and Child Care Giuseppe D Alessandro, University of Palermo, Palermo, Italy
    Ital J Pediatr 39:32. 2013
    ..Early clinical assessment, differential diagnosis and cerebral imaging including cerebral MRI angiography allow the clinicians to diagnose also in early infancy this rare condition...
  19. pmc Intrauterine growth pattern and birthweight discordance in twin pregnancies: a retrospective study
    Giuseppe Puccio
    Dipartimento di Scienze per la Promozione della Salute e Materno Infantile, Universita degli Studi di Palermo, Palermo, Italy
    Ital J Pediatr 40:43. 2014
    ..The aim of this study is to describe the epidemiological features of a population of twins at birth, with particular reference to the interpretation and clinical effects of birthweight discordance...
  20. pmc Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study
    Giuseppe Puccio
    Dipartimento di Scienze per la Promozione della Salute e Materno Infantile, Universita degli Studi di Palermo, Palermo, Italy
    Ital J Pediatr 39:23. 2013
    ..The aim of this study is to evaluate such relationships in a population of newborns, along with other epidemiological and auxological parameters, in particular the ponderal index (PI)...
  21. ncbi request reprint Apolipoprotein E genotypic frequencies among Down syndrome patients imply early unsuccessful aging for ApoE4 carriers
    Giusi I Forte
    Gruppo di Studio sull Immunosenescenza, Dipartimento di Biopatologia e Metodologie Biomediche, Università Palermo, Palermo, Italy
    Rejuvenation Res 10:293-9. 2007
    ....
  22. ncbi request reprint Aminoacid profile and oxidative status in children affected by Down syndrome before and after supplementary nutritional treatment
    Marcello Ciaccio
    Cattedra di Biochimica Clinica, Facolta di Medicina e Chirurgia, Sezione di Biochimica Medica, Dipartimento di Biotecnologie Mediche e Medicina Legale, Universita degli Studi di Palermo, Palermo, Italy
    Ital J Biochem 52:72-9. 2003
    ....
  23. ncbi request reprint Bipolar disorders and affective temperaments: a national family study testing the "endophenotype" and "subaffective" theses using the TEMPS-A Buenos Aires
    Gustavo H Vazquez
    Department of Neuroscience, University of Palermo, Buenos Aires, Argentina
    J Affect Disord 108:25-32. 2008
    ....