Katia SAMPIERI 

PhD Program years: 2004 - 2008

1. Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.
   Sampieri K, Hadjistilianou T, Mari F, Speciale C, Mencarelli MA, Cetta F, Manoukian S, Peissel B, Giachino D, Pasini B, Acquaviva A, Caporossi A, Frezzotti R, Renieri A, Bruttini M.
   J Hum Genet. 2006;51(3):209-16
   
   
2. 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.
   
   
3. 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.
   
   
4. 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.
   
   
5. 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.
   
   
6. 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
   
   
7. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
   Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A.
   Am J Med Genet A. 2008 Aug 1;146A(15):1994-8.
   
   
8. Private inherited microdeletion/microduplications: implications in clinical practice.
   Mencarelli MA, Katzaki E, Papa FT, Sampieri K, Caselli R, Uliana V, Pollazzon M, Canitano R, Mostardini R, Grosso S, Longo I, Ariani F, Meloni I, Hayek J, Balestri P, Mari F, Renieri A.
   Eur J Med Genet. 2008 Sep-Oct;51(5):409-16.
   
   
9. Genomic differences between retinoma and retinoblastoma.
   Sampieri K, Mencarelli MA, Epistolato MC, Toti P, Lazzi S, Bruttini M, De Francesco S, Longo I, Meloni I, Mari F, Acquaviva A, Hadjistilianou T, Renieri A, Ariani F.
   Acta Oncol. 2008;47(8):1483-92

1) Identifications of 5 novel microdeletion syndromes by Array-CGH analysis (4rth International Meeting on cryptic chromosomal rearrangements in mental retardation and autism, Troina, 4-5 aprile 2008)

2) Genomic differences between retinoma and retinoblastoma (ESHG, Barcellona, Spagna, 31 maggio 2008-3 giugno 2008)

3) Array-CGH analysis of MCA/MR patients: identifications of 5 novel microdeletion syndromes (ESHG, Barcellona, Spagna, 31 maggio 2008-3 giugno 2008)

4) Array-CGH analysis of MCA/MR Italian patients: identifications of 5 novel microdeletion syndromes and 10 private inherited CNVs (4th International Decipher Symposium, Hinxton, UK, 19-21 maggio 2008)

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