SPECIALTY SCHOOL IN MEDICAL GENETICS
 

UNIVERSITY OF SIENA

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Abstract during the specialty course

Ndoni Enea

1) Disciglio V., Fichera M., Ciccone R., Mucciolo M., Ndoni E., Fernandez Jaen A., Galesi O., Mari F., Zuffardi O., Romano C., Renieri A. ‘Mirror effects for Autism Spectrum Disorder due to gene dosage at 10q11.22 affecting GPRIN2 gene, a regulator of neurite outgrowth and PPYR1 gene involved in energy homeostasis.’ (European Conference of Human Genetics 2012, June 23-26, 2012, Nürnberg, Germany)

2) Disciglio V, Mencarelli MA, Mucciolo M, Ndoni E, Frullanti E, Marozza A, Di Marco C, Lo Rizzo C, Baldassarri M, Massarelli A, Canocchi V, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. interstitial 22q13 deletions not involving SHANK3 gene: a new gene contiguous syndrome? (SIGU SORRENTO, 21-24 November 2012)