Pramparo T - Search Results

1

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: pramparo t. Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809484 Free PMC article.

2

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O. Torniero C, et al. Among authors: pramparo t. Eur J Hum Genet. 2007 Jan;15(1):62-7. doi: 10.1038/sj.ejhg.5201730. Epub 2006 Oct 31. Eur J Hum Genet. 2007. PMID: 17075606

3

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O. Torniero C, et al. Among authors: pramparo t. Eur J Hum Genet. 2008 Aug;16(8):880-7. doi: 10.1038/ejhg.2008.42. Epub 2008 Mar 12. Eur J Hum Genet. 2008. PMID: 18337728

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. Among authors: pramparo t. 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 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.

Bonaglia MC, Giorda R, Tenconi R, Pessina M, Pramparo T, Borgatti R, Zuffardi O. Bonaglia MC, et al. Among authors: pramparo t. Eur J Hum Genet. 2005 May;13(5):586-91. doi: 10.1038/sj.ejhg.5201369. Eur J Hum Genet. 2005. PMID: 15657611

6

Narrowing the deleted region associated with the 15q21 syndrome.

Pramparo T, Mattina T, Gimelli S, Liehr T, Zuffardi O. Pramparo T, et al. Eur J Med Genet. 2005 Jul-Sep;48(3):346-52. doi: 10.1016/j.ejmg.2005.04.012. Eur J Med Genet. 2005. PMID: 16179230

7

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28.

Rossetti F, Rizzolio F, Pramparo T, Sala C, Bione S, Bernardi F, Goegan M, Zuffardi O, Toniolo D. Rossetti F, et al. Among authors: pramparo t. Eur J Hum Genet. 2004 Oct;12(10):829-34. doi: 10.1038/sj.ejhg.5201186. Eur J Hum Genet. 2004. PMID: 15280899

8

Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?

De Gregori M, Pramparo T, Memo L, Gimelli G, Messa J, Rocchi M, Patricelli MG, Ciccone R, Giorda R, Zuffardi O. De Gregori M, et al. Among authors: pramparo t. Hum Genet. 2005 Nov;118(2):207-13. doi: 10.1007/s00439-005-0008-x. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16133173

9

Subtelomeric trisomy 21q: a new benign chromosomal variant.

Bonaglia MC, Marelli S, Gottardi G, Zucca C, Pramparo T, Giorda R, Grasso R, Borgatti R, Zuffardi O. Bonaglia MC, et al. Among authors: pramparo t. Eur J Med Genet. 2007 Jan-Feb;50(1):54-9. doi: 10.1016/j.ejmg.2006.07.001. Epub 2006 Sep 10. Eur J Med Genet. 2007. PMID: 17055792

10

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.

Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O. Bonaglia MC, et al. Among authors: pramparo t. J Med Genet. 2006 Oct;43(10):822-8. doi: 10.1136/jmg.2005.038604. Epub 2005 Nov 11. J Med Genet. 2006. PMID: 16284256 Free PMC article.

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