SPECIALTY SCHOOL IN MEDICAL GENETICS
 

UNIVERSITY OF SIENA

 

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Publications during the specialty course
 
Caselli Rossella 
 

1) 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.

 

2) 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.

 

3) 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.

 

4) 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.

 

5) 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.

 

6) 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.

 

7) A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.

Caselli R, Ballarati L, Selicorni A, Milani D, Maitz S, Valtorta C, Larizza L, Giardino D.

Eur J Med Genet. 2010 Sep-Oct;53(5):325-8. Epub 2010 Jun 2.

 

8) Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

Ballarati L, Cereda A, Caselli R, Selicorni A, Recalcati MP, Maitz S, Finelli P, Larizza L, Giardino D.

Eur J Med Genet. 2011 Jan-Feb;54(1):55-9. Epub 2010 Oct 20. Review.