Zuffardi O - Search Results

1

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

Piantanida M, Dellavecchia C, Floridia G, Giglio S, Hoeller H, Dordi B, Danesino C, Schinzel A, Zuffardi O. Piantanida M, et al. Among authors: zuffardi o. Hum Genet. 1997 Jun;99(6):766-71. doi: 10.1007/s004390050445. Hum Genet. 1997. PMID: 9187670

2

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq.

Bardoni B, Floridia G, Guioli S, Peverali G, Anichini C, Cisternino M, Casalone R, Danesino C, Fraccaro M, Zuffardi O, et al. Bardoni B, et al. Among authors: zuffardi o. Hum Genet. 1993 May;91(4):333-8. doi: 10.1007/BF00217352. Hum Genet. 1993. PMID: 8099057

3

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

Rossi E, Floridia G, Casali M, Danesino C, Chiumello G, Bernardi F, Magnani I, Papi L, Mura M, Zuffardi O. Rossi E, et al. Among authors: zuffardi o. J Med Genet. 1993 Nov;30(11):926-31. doi: 10.1136/jmg.30.11.926. J Med Genet. 1993. PMID: 8301647 Free PMC article.

4

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.

Floridia G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E, Gimelli G, Croci G, Franchi F, Gilgenkrantz S, Grammatico P, Dalprá L, Wood S, Danesino C, Zuffardi O. Floridia G, et al. Among authors: zuffardi o. Am J Hum Genet. 1996 Apr;58(4):785-96. Am J Hum Genet. 1996. PMID: 8644743 Free PMC article.

5

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.

6

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.

Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, Zuffardi O. Gimelli G, et al. Among authors: zuffardi o. Hum Mol Genet. 2003 Apr 15;12(8):849-58. doi: 10.1093/hmg/ddg101. Hum Mol Genet. 2003. PMID: 12668608

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

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

Rossi E, de Gregori M, Grazia Patricelli M, Pramparo T, Argentiero L, Giglio S, Sosta K, Foresti G, Zuffardi O. Rossi E, et al. Among authors: zuffardi o. Am J Med Genet A. 2005 Mar 1;133A(2):189-92. doi: 10.1002/ajmg.a.30519. Am J Med Genet A. 2005. PMID: 15669096

9

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

10

Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation.

Maraschio P, Zuffardi O, Caiulo A, Dainotti E, Piantanida M, Rivera H, Tupler R. Maraschio P, et al. Among authors: zuffardi o. Hum Genet. 1990 Oct;85(5):491-4. doi: 10.1007/BF00194222. Hum Genet. 1990. PMID: 2227932

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