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SPECIALTY SCHOOL IN
MEDICAL GENETICS
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| Abstract during the specialty course |
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Lo Rizzo Caterina |
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1) M. Mucciolo, V. Disciglio, M.A. Mencarelli, M. Pollazzon, A. Marozza, C. Castagnini, L. Dosa, C. Lo Rizzo, C. Di Marco, F. Mari, A. Renieri. Clinical signs, disease categories and CNVs. (7TH INTERNATIONAL DECIPHER Symposium The Wellcome Trust Conference Centre Hinxton Cambridge, UK, May 23-25, 2011)
2) M. Mucciolo, V. Disciglio, M.A. Mencarelli, M. Pollazzon, A. Marozza, C. Castagnini, L. Dosa, C. Lo Rizzo, C. Di Marco, F. Mari, A. Renieri. Clinical signs, disease categories and CNVs. (XIV Congresso Nazionale SIGU 2011, Novembre 2011, Milano)
3) Livide G, Grillo E, Lo Rizzo C, Mencarelli MA, Mari F, Ariani F, Renieri A, Meloni I. GluD1 is down-regulated in both MECP2-mutated and CDKL5-mutated iPS cells. (SIGU SORRENTO, 21-24 November 2012)
4) E. Grillo, C. Lo Rizzo, L. Bianciardi, V. Bizzarri, M. Baldassarri, O. Spiga, S. Furini, C. De Felice, C. Signorini, S. Leoncini, A. Pecorelli, L. Ciccoli, M.A. Mencarelli, J. Hayek, I. Meloni, F. Ariani, F. Mari, A. Renieri. Revealing the complexity of a monogenic disease: Rett syndrome exome sequencing. (SIGU SORRENTO, 21-24 November 2012)
5) Mari F, Grillo E, Lo Rizzo C, Pasquetti E, Carignani G, Bruttini M, Mencarelli MA, Meloni I, Marozza A, Ariani F, Renieri A. Why “diagnostic packages” in clinical practice? Implications of the use of one-step NGS test for MECP2, CDKL5, FOXG1 and MEF2C in the spectrum of Rett syndrome. (SIGU SORRENTO, 21-24 November 2012)
6) Mencarelli MA, Bizzarri V, Amabile S, Amitrano S, Pasquetti E, Alocci D, Barlacchi G, Bruttini M, Lazzeri D, Bianciardi L, Lo Rizzo C, Di Marco C, Giani I, Bianchini M, Scarselli F, Ariani F, Mari F, Renieri A. Investigating the genetic basis of Poland Syndrome by exome sequencing. (SIGU SORRENTO, 21-24 November 2012)
7) 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)
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