DOCTORATE in GENETICS, ONCOLOGY and CLINICAL MEDICINE (GenOMeC)
DOTTORATO DI RICERCA IN GENETICA ONCOLOGIA E MEDICINA CLINICA

UNIVERSITA' DEGLI STUDI  DI SIENA

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Publications during PhD program

1) "Interstitial 22q13 Deletions not involving SHANK3 gene: A new contiguous gene syndrome."
Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Ndoni N, Frullanti E, Marozza A, Di Marco C, Amabile S, Baldassari M, Massarelli A, Canocchi V, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute A, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A

Accepted to American Journal of Medical Genetics: Part A

2) "Telethon Network of GeneticBiobanks: a Key Service for Diagnosis and Research on Rare Diseases."
Filocamo M, Baldo C, Goldwurm S, Renieri A, Angelini C, Moggio M, Mora M, Merla G, Politano L, GaravagliaB, Casareto L, Dagna Bricarelli F, Corsolini F, Galotto S, Mazzotti R, Stroppiana G, Castagnetta M, Mogni M, Viotti V, Bonetti A, Felici F, Natuzzi F, Amabile S, Frullanti E, Meloni I, Fanin M, Nascimbeni A, Pegoraro E, Peterle E, Napoli L, Ripolone M, Sciacco M, Violano R, Canioni E, Gibertini S, Saredi S, Zanotti S, Fusco C, Micale L, Pellico M T, Zelante L, D'Ambrosio P, Picillo E, Taglia A, Barzaghi C, Panteghini C, Valletta L.

In press to Orphanet Journal of Rare Diseases

3) "GluD1 is a common altered player in neuronaldifferentiation from both MECP2-mutated and CDKL5-mutated iPS."

Livide G, Patriarchi T, Amenduni M, Amabile S, Yasui D, Calcagno E, Lo Rizzo C, De Falco G, Ulivieri C, Ariani F, Mari F, Mencarelli MA, Hell JW, Renieri A, Meloni I.

Submitted tom European Journal of Human Genetics