Zuffardi O - Search Results

1

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.

Novara F, Beri S, Bernardo ME, Bellazzi R, Malovini A, Ciccone R, Cometa AM, Locatelli F, Giorda R, Zuffardi O. Novara F, et al. Among authors: zuffardi o. Hum Genet. 2009 Oct;126(4):511-20. doi: 10.1007/s00439-009-0689-7. Epub 2009 May 30. Hum Genet. 2009. PMID: 19484265 Free PMC article.

2

Reciprocal translocations: a trap for cytogenetists?

Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Laganà C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E. Ciccone R, et al. Among authors: zuffardi o. Hum Genet. 2005 Oct;117(6):571-82. doi: 10.1007/s00439-005-1324-x. Epub 2005 Jul 23. Hum Genet. 2005. PMID: 16041583

3

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: zuffardi o. Hum Genet. 2005 Nov;118(2):207-13. doi: 10.1007/s00439-005-0008-x. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16133173

4

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

Resta N, Giorda R, Bagnulo R, Beri S, Della Mina E, Stella A, Piglionica M, Susca FC, Guanti G, Zuffardi O, Ciccone R. Resta N, et al. Among authors: zuffardi o. Hum Genet. 2010 Oct;128(4):373-82. doi: 10.1007/s00439-010-0859-7. Epub 2010 Jul 11. Hum Genet. 2010. PMID: 20623358

5

Inverted duplications deletions: underdiagnosed rearrangements??

Zuffardi O, Bonaglia M, Ciccone R, Giorda R. Zuffardi O, et al. Clin Genet. 2009 Jun;75(6):505-13. doi: 10.1111/j.1399-0004.2009.01187.x. Clin Genet. 2009. PMID: 19508415 Review.

6

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.

Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. Giglio S, et al. Among authors: zuffardi o. Am J Hum Genet. 2002 Aug;71(2):276-85. doi: 10.1086/341610. Epub 2002 Jun 10. Am J Hum Genet. 2002. PMID: 12058347 Free PMC article.

7

Inverted duplications: how many of them are mosaic?

Pramparo T, Giglio S, Gregato G, de Gregori M, Patricelli MG, Ciccone R, Scappaticci S, Mannino G, Lombardi C, Pirola B, Giorda R, Rocchi M, Zuffardi O. Pramparo T, et al. Among authors: zuffardi o. Eur J Hum Genet. 2004 Sep;12(9):713-7. doi: 10.1038/sj.ejhg.5201240. Eur J Hum Genet. 2004. PMID: 15266302

8

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

Pramparo T, Grosso S, Messa J, Zatterale A, Bonaglia MC, Chessa L, Balestri P, Rocchi M, Zuffardi O, Giorda R. Pramparo T, et al. Among authors: zuffardi o. Hum Genet. 2005 Oct;118(1):76-81. doi: 10.1007/s00439-005-0004-1. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16001262

9

A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.

Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi O. Gimelli G, et al. Among authors: zuffardi o. Am J Med Genet A. 2006 Jan 1;140(1):40-5. doi: 10.1002/ajmg.a.31044. Am J Med Genet A. 2006. PMID: 16333824

10

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

Cau M, Addis M, Congiu R, Meloni C, Cao A, Santaniello S, Loi M, Emma F, Zuffardi O, Ciccone R, Sole G, Melis MA. Cau M, et al. Among authors: zuffardi o. J Hum Genet. 2006;51(11):1030-1036. doi: 10.1007/s10038-006-0049-6. Epub 2006 Sep 6. J Hum Genet. 2006. PMID: 16955230

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