DOCTORATE in GENETICS, ONCOLOGY and CLINICAL MEDICINE (GenOMeC)
DOTTORATO DI RICERCA IN GENETICA ONCOLOGIA E MEDICINA CLINICA

UNIVERSITA' DEGLI STUDI  DI SIENA

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Publications during the PhD program

1) Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.

Frezzotti P, Pescucci C, Papa FT, Iester M, Mittica V, Motolese I, Peruzzi S, Artuso R, Longo I, Mencarelli MA, Mittica P, Motolese E, Renieri A.

Br J Ophthalmol. 2010 Sep 2.

2) Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.

Katzaki E, Morin G, Pollazzon M, Papa FT, Buoni S, Hayek J, Andrieux J, Lecerf L, Popovici C, Receveur A, Mathieu-Dramard M, Renieri A, Mari F, Philip N.

Am J Med Genet A. 2010 Jul;152A(7):1711-7.

3) 3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.

Uliana V, Grosso S, Cioni M, Ariani F, Papa FT, Tamburello S, Rossi E, Katzaki E, Mucciolo M, Marozza A, Pollazzon M, Mencarelli MA, Mari F, Balestri P, Renieri A.

Eur J Med Genet. 2010 May-Jun;53(3):168-70. Epub 2010 Feb 26.

4) Is HSD17B1 a new sex reversal gene in human?

Katzaki E, Papa FT, Mucciolo M, Uliana V, Renieri A.

Mol Cell Endocrinol. 2009 Dec 10;313(1-2):70; author reply 71. Epub 2009 Jul 28.

5) A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.

Pollazzon M, Grosso S, Papa FT, Katzaki E, Marozza A, Mencarelli MA, Uliana V, Balestri P, Mari F, Renieri A.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):131-3. Epub 2009 Mar 24.

6) 14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):148-52. Epub 2009 Mar 19.

7) Array comparative genomic hybridization in retinoma and retinoblastoma tissues.

Sampieri K, Amenduni M, Papa FT, Katzaki E, Mencarelli MA, Marozza A, Epistolato MC, Toti P, Lazzi S, Bruttini M, De Filippis R, De Francesco S, Longo I, Meloni I, Mari F, Acquaviva A, Hadjistilianou T, Renieri A, Ariani F.

Cancer Sci. 2009 Mar;100(3):465-71. Epub 2009 Jan 29.

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. Epub 2008 Jul 9.

9) 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.

10) Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.

Caselli R, Mencarelli MA, Papa FT, Ariani F, Longo I, Meloni I, Vonella G, Acampa M, Auteri A, Vicari S, Orsi A, Hayek G, Renieri A, Mari F.

Am J Med Genet A. 2008 May 1;146A(9):1195-9.

11) Expanding the phenotype of 22q11 deletion syndrome: the MURCS association.

Uliana V, Giordano N, Caselli R, Papa FT, Ariani F, Marcocci C, Gianetti E, Martini G, Papakostas P, Rollo F, Meloni I, Mari F, Priolo M, Renieri A, Nuti R.

Clin Dysmorphol. 2008 Jan;17(1):13-7.

12) Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I.

J Hum Genet. 2007;52(12):1011-7. Epub 2007 Nov 8. Erratum in: J Hum Genet. 2008 Mar;53(3):285.

13) 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. Epub 2007 Apr 14.