SPECIALTY SCHOOL IN MEDICAL GENETICS
 

UNIVERSITY OF SIENA

 

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Publications during the specialty course
 
Pescucci Chiara

 

1) Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group.

Frascą GM, Onetti-Muda A, Mari F, Longo I, Scala E, Pescucci C, Roccatello D, Alpa M, Coppo R, Li Volti G, Feriozzi S, Bergesio F, Schena FP, Renieri A; Italian Renal Immunopathology Group.

Nephrol Dial Transplant. 2005 Mar;20(3):545-51. Epub 2004 Dec 23.

 

2) 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.

 

3) 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. Epub 2005 May 25.

 

4) 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.

 

5) Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma.

Ariani F, Longo I, Frezzotti P, Pescucci C, Mari F, Caporossi A, Frezzotti R, Renieri A.

Graefes Arch Clin Exp Ophthalmol. 2006 Sep;244(9):1077-82. Epub 2006 Jan 27.

 

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) 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.

 

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.