Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndromePICCIONE, Maria; ANTONA, Vincenzo; NICETA, Marcello et al.European journal of pediatrics. 2009, Vol 168, Num 9, pp 1135-1139, issn 0340-6199, 5 p.Article

The First Case of Myoclonic Epilepsy in a Child With a De Novo 22q11.2 MicroduplicationPICCIONE, Maria; VECCHIO, Davide; CAVANI, Simona et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 12, pp 3054-3059, issn 1552-4825, 6 p.Article

10qter Deletion : A New CasePICCIONE, Maria; ANTONA, Vincenzo; PIRO, Ettore et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 18, pp 2435-2438, issn 1552-4825, 4 p.Article

Array CGH defined interstitial deletion on chromosome 14: a new casePICCIONE, Maria; ANTONA, Vincenzo; SCAVONE, Valeria et al.European journal of pediatrics. 2010, Vol 169, Num 7, pp 845-851, issn 0340-6199, 7 p.Article

Array-CGH Defined Chromosome 1p Duplication in a patient With Autism Spectrum Disorder, Mild Mental Deficiency, and Minor Dysmorphic FeaturesPICCIONE, Maria; ANTONA, Vincenzo; ANTONA, Roberta et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 2, pp 486-489, issn 1552-4825, 4 p.Article

A single amino acid change A91V in perforin : a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?SANTORO, Alessandra; CANNELLA, Sonia; TRIZZINO, Antonino et al.Haematologica (Roma). 2005, Vol 90, Num 5, pp 697-698, issn 0390-6078, 2 p.Article

Oral, facial, digital, vertebral anomalies with psychomotor delay: A mild form of OFD type gabrielli?FERRERO, Giovanni Battista; VALENZISE, Mariella; FRANCO, Brunella et al.American journal of medical genetics. 2002, Vol 113, Num 3, pp 291-294, issn 0148-7299, 4 p.Article

4q13.1-21.1 Deletion Encompassing the HPE8 Locus in an Adolescent With Intellectual Disability and Bilateral Microphthalmia, But Without HoloprosencephalyPICCIONE, Maria; SERRA, Gregorio; CONSIGLIO, Valeria et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 6, pp 1427-1433, issn 1552-4825, 7 p.Article

Phenotypic Analysis of Individuals With Costello Syndrome dye to HRAS p.G13CGRIPP, Karen W; HOPKINS, Elizabeth; GRAHAM, Gail E et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 706-716, issn 1552-4825, 11 p.Article

A novel L1CAM mutation in a fetus detected by prenatal diagnosisPICCIONE, Maria; MATINA, Federico; FICHERA, Marco et al.European journal of pediatrics. 2010, Vol 169, Num 4, pp 415-419, issn 0340-6199, 5 p.Article