Plasma levels of amyloid β 40 and 42 are independent from ApoE genotype and Mental retardation in Down syndromeCAVANI, Simona; TAMAOKA, Akira; FURIYA, Yoshiko et al.American journal of medical genetics. 2000, Vol 95, Num 3, pp 224-228, issn 0148-7299Article

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

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

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome : Five new casesSTRIANO, Pasquale; MALACARNE, Michela; GAGGERO, Roberto et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 18, pp 1944-1949, issn 1552-4825, 6 p.Article

Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic HybridizationSTRIANO, Pasquale; COPPOLA, Antonietta; ELIA, Maurizio et al.Archives of neurology (Chicago). 2012, Vol 69, Num 3, pp 322-330, issn 0003-9942, 9 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

FMR1, FMR2, and SLITRK2 Deletion Inside a Paracentric Inversion Involving Bands Xq27.3―q28 in a Male and His MotherCAVANI, Simona; PRONTERA, Paolo; GRASSO, Marina et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 1, pp 221-224, issn 1552-4825, 4 p.Article

Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorderGROET, Jürgen; MCELWAINE, Suzanne; COTTER, Finbarr E et al.Lancet (British edition). 2003, Vol 361, Num 9369, pp 1617-1620, issn 0140-6736, 4 p.Article

Mild generalized epilepsy and developmental disorder associated with large inv dup(15)CHIFARI, Rosanna; GUERRINI, Renzo; PIERLUIGI, Mauro et al.Epilepsia (Copenhagen). 2002, Vol 43, Num 9, pp 1096-1100, issn 0013-9580Article