The University of Siena PhD Course in
Genetics, Oncology and Clinical Medicine


PhD Graduate

Rosangela ARTUSO 

PhD Program years: 2005 - 2009







PUBLICATIONS DURING THE PHD PROGRAM
  1. The Italian XLMR bank: a clinical and molecular database.
    Pescucci C, Caselli R, Mari F, Speciale C, Ariani F, Bruttini M, Sampieri K, Mencarelli MA, Scala E, Longo I, Artuso R, Renieri A, Meloni I; XLMR Italian Network.
    Hum Mutat. 2007 Jan;28(1):13-8.

  2. 2q24-q31 deletion: report of a case and review of the literature.
    Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A.
    Eur J Med Genet. 2007 Jan-Feb;50(1):21-32.

  3. Italian Rett database and biobank.
    Sampieri K, Meloni I, Scala E, Ariani F, Caselli R, Pescucci C, Longo I, Artuso R, Bruttini M, Mencarelli MA, Speciale C, Causarano V, Hayek G, Zappella M, Renieri A, Mari F.
    Hum Mutat. 2007 Apr;28(4):329-35.

  4. MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
    Scala E, Longo I, Ottimo F, Speciale C, Sampieri K, Katzaki E, Artuso R, Mencarelli MA, D'Ambrogio T, Vonella G, Zappella M, Hayek G, Battaglia A, Mari F, Renieri A, Ariani F.
    Am J Med Genet A. 2007 Dec 1;143A(23):2775-84.

  5. Mutations in FN1 cause glomerulopathy with fibronectin deposits.
    Castelletti F, Donadelli R, Banterla F, Hildebrandt F, Zipfel PF, Bresin E, Otto E, Skerka C, Renieri A, Todeschini M, Caprioli J, Caruso RM, Artuso R, Remuzzi G, Noris M.
    Proc Natl Acad Sci U S A. 2008 Feb 19;105(7):2538-43.

  6. FOXG1 is responsible for the congenital variant of Rett syndrome.
    Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A.
    Am J Hum Genet. 2008 Jul;83(1):89-93. Epub 2008 Jun 19.

  7. Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
    Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F.
    Nephrol Dial Transplant. 2009 May;24(5):1464-71.

  8. The XLMR gene ACSL4 plays a role in dendritic spine architecture.
    Meloni I, Parri V, De Filippis R, Ariani F, Artuso R, Bruttini M, Katzaki E, Longo I, Mari F, Bellan C, Dotti CG, Renieri A.
    Neuroscience. 2009 Mar 17;159(2):657-69. Epub 2008 Dec 24.

ABSTRACTS OF CONFERENCE DURING THE PHD PROGRAM

1) La sindrome di Alport autosomica dominante: report di un nuovo caso (IX congresso nazionale SIGU, 8-10 novembre 2006)

2) Geni Modificatori nella Sindrome di Rett (X congresso nazionale SIGU, Montecatini Terme, 14-16 novembre 2007)

3) The Italian Rett Syndrome Biobank and Database (6th Rett Syndrome Congress, Parigi, 10-13 ottobre 2008)

4) Male Rett Syndrome patient with mosaic MECP2 mutation (World Rett Syndrome congress, Parigi, 10-13 ottobre 2008)

5) Il gene FOXG1 è responsabile della variante congenita della sindrome di Rett (Congresso nazionale SIGU, Genova 23-25 novembre 2008)

6) Il gene ACSL4 è importante nell'architettura delle spine dendritiche (Congresso nazionale SIGU, Genova 23-25 novembre 2008)

7) FOXG1 is responsible for the Congenital Variant of Rett (ASHG 2008, Philadelphia, 11-15 novembre 2008)

8) Congenital Rett Syndrome Variant (World Rett Syndrome congress, Parigi, 10-13 ottobre 2008)

9) Diagnostic flow-chart for Rett syndrome (1st European Congress on Rett Syndrome, Milano, 5-7 giugno 2009)

ACTIVITY DURING THE PHD PROGRAM

TRAINING PERIOD ABROAD
  • Hans Van Bokhoven Lab, Neurogenetics & Molecular Neurobiology, Department of Human Genetics, University of Nijmegen, The Netherlands
    2009: six months