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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
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