Caselli R - Search Results

1

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. Papa FT, et al. Among authors: caselli r. Am J Med Genet A. 2008 Aug 1;146A(15):1994-8. doi: 10.1002/ajmg.a.32413. Am J Med Genet A. 2008. PMID: 18627055

2

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.

Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A. Scala E, et al. Among authors: caselli r. J Med Genet. 2005 Feb;42(2):103-7. doi: 10.1136/jmg.2004.026237. J Med Genet. 2005. PMID: 15689447 Free PMC article.

3

2q24-q31 deletion: report of a case and review of the literature.

Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A. Pescucci C, et al. Among authors: caselli r. Eur J Med Genet. 2007 Jan-Feb;50(1):21-32. doi: 10.1016/j.ejmg.2006.09.001. Epub 2006 Sep 17. Eur J Med Genet. 2007. PMID: 17088112 Review.

4

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. Caselli R, et al. J Hum Genet. 2007;52(6):535-542. doi: 10.1007/s10038-007-0151-4. Epub 2007 May 15. J Hum Genet. 2007. PMID: 17502991

5

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. Caselli R, et al. Eur J Med Genet. 2007 Jul-Aug;50(4):315-21. doi: 10.1016/j.ejmg.2007.03.003. Epub 2007 Apr 14. Eur J Med Genet. 2007. PMID: 17512813

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. Sampieri K, et al. Among authors: caselli r. Hum Mutat. 2007 Apr;28(4):329-35. doi: 10.1002/humu.20453. Hum Mutat. 2007. PMID: 17186495

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. Mencarelli MA, et al. Among authors: caselli r. Am J Med Genet A. 2007 Apr 15;143A(8):858-65. doi: 10.1002/ajmg.a.31602. Am J Med Genet A. 2007. PMID: 17352388

8

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. Uliana V, et al. Among authors: caselli r. Clin Dysmorphol. 2008 Jan;17(1):13-17. doi: 10.1097/MCD.0b013e3282ef97ee. Clin Dysmorphol. 2008. PMID: 18049074

9

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. Caselli R, et al. Am J Med Genet A. 2008 May 1;146A(9):1195-9. doi: 10.1002/ajmg.a.32197. Am J Med Genet A. 2008. PMID: 18348270

10

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. Mencarelli MA, et al. Among authors: caselli r. Eur J Med Genet. 2008 Sep-Oct;51(5):409-16. doi: 10.1016/j.ejmg.2008.06.003. Epub 2008 Jul 9. Eur J Med Genet. 2008. PMID: 18657637

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