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


PhD Graduate

Elisa SCALA 

PhD Program years: 2003 - 2007






PUBLICATIONS DURING THE PHD PROGRAM
    1) Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.
    Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A.
    Kidney Int. 2004 May;65(5):1598-603

    2) CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
    Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A.
    J Med Genet. 2005 Feb;42(2):103-7

    3) Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group.
    Frascà GM, Onetti-Muda A, Mari F, Longo I, Scala E, Pescucci C, Roccatello D, Alpa M, Coppo R, Li Volti G, Feriozzi S, Bergesio F, Schena FP, Renieri A; Italian Renal Immunopathology Group.
    Nephrol Dial Transplant. 2005 Mar;20(3):545-51.

    4) CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
    Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.
    Hum Mol Genet. 2005 Jul 15;14(14):1935-46.

    5) [Clinical and genetic features of the Alport 'syndromes'].
    Pescucci C, Longo I, Mari F, Scala E, Bruttini M, Caselli R, Renieri A.
    G Ital Nefrol. 2005 Sep-Oct;22(5):466-76.

    6) Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
    Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, Speciale C, Giani M, Bresin E, Caringella DA, Borochowitz ZU, Siriwardena K, Winship I, Renieri A, Meloni I.
    Nephrol Dial Transplant. 2006 Mar;21(3):665-71.

    7) Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.
    Mari F, Giachino D, Russo L, Pilia G, Ariani F, Scala E, Chiappe F, Sampieri K, Caporossi A, Renieri A, Lasorella G.
    J AAPOS. 2006 Jun;10(3):279-80

    8) 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.

    9) 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.

    10) 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

ABSTRACTS OF CONFERENCE DURING THE PHD PROGRAM

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

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

ACTIVITY DURING THE PHD PROGRAM

TRAINING PERIOD ABROAD
  • Hans Van Bokhoven Lab, Neurogenetics & Molecular Neurobiology, Department of Human Genetics, University of Nijmegen, The Netherlands
    2004: three months