SPECIALTY SCHOOL IN MEDICAL GENETICS
 

UNIVERSITY OF SIENA

 

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Publications during the specialty course
 
Meloni Ilaria

 

1) Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

Longo I, Russo L, Meloni I, Ricci I, Ariani F, Pescucci C, Giordano CT, Canitano R, Hayek G, Zappella M, Neri G, Renieri A, Gurrieri F.

Eur J Hum Genet. 2004 Aug;12(8):682-5.

 

2) Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A.

Hum Mutat. 2004 Aug;24(2):172-7.

 

3) Lymphoblastoid cell lines of Rett syndrome patients exposed to oxidative-stress-induced apoptosis.

Battisti C, Formichi P, Tripodi SA, Meloni I, Mangiavacchi P, Zappella M, Federico A.

Brain Dev. 2004 Sep;26(6):384-8.

 

4) Is Rett syndrome a loss-of-imprinting disorder?

Pescucci C, Meloni I, Renieri A.

Nat Genet. 2005 Jan;37(1):10-1. No abstract available.

 

5) 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. Epub 2005 Dec 7.

 

6) 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.

 

7) RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.

Micheli V, Sestini S, Parri V, Fichera M, Romano C, Ariani F, Longo I, Mari F, Bruttini M, Renieri A, Meloni I.

Clin Chim Acta. 2007 Sep;384(1-2):35-40. Epub 2007 May 26.

 

8) 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.