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


PhD Graduate

Rossella CASELLI 

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. Germline mosaicism in Rett syndrome identified by prenatal diagnosis.
    Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A.
    Clin Genet. 2005 Mar;67(3):258-60

  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. 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.

  8. 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.

  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. Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.
    Mencarelli MA, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A, Mari F.
    Am J Med Genet A. 2007 Apr 15;143A(8):858-65

  11. Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.
    Caselli R, Speciale C, Pescucci C, Uliana V, Sampieri K, Bruttini M, Longo I, De Francesco S, Pramparo T, Zuffardi O, Frezzotti R, Acquaviva A, Hadjistilianou T, Renieri A, Mari F.
    J Hum Genet. 2007;52(6):535-42.

  12. A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.
    Caselli R, Mencarelli MA, Papa FT, Uliana V, Schiavone S, Strambi M, Pescucci C, Ariani F, Rossi V, Longo I, Meloni I, Renieri A, Mari F.
    Eur J Med Genet. 2007 Jul-Aug;50(4):315-21.
ABSTRACTS OF CONFERENCE DURING THE PHD PROGRAM
  1. Analisi oligo array-CGH: confronto di due piattaforme a differente risoluzione, identificazione di nuove sindromi da microdelezioni e di fenotipi atipici in sindromi note. (X congresso nazionale SIGU, Montecatini Terme, 14-16 novembre 2007)
ACTIVITY DURING THE PHD PROGRAM

TRAINING PERIOD ABROAD
  • Wellcome Trust ranger Institute Hixton, Cambridge, UK
    2007: three months