Zuffardi O - Search Results

1

Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

Maraschio P, Zuffardi O, Dalla Fior T, Tiepolo L. Maraschio P, et al. Among authors: zuffardi o. J Med Genet. 1988 Mar;25(3):173-80. doi: 10.1136/jmg.25.3.173. J Med Genet. 1988. PMID: 3351904 Free PMC article.

2

Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder.

Rivera H, Zuffardi O, Maraschio P, Caiulo A, Anichini C, Scarinci R, Vivarelli R. Rivera H, et al. Among authors: zuffardi o. J Med Genet. 1989 Oct;26(10):626-30. doi: 10.1136/jmg.26.10.626. J Med Genet. 1989. PMID: 2685311 Free PMC article.

3

A novel mechanism for the origin of supernumerary marker chromosomes.

Maraschio P, Tupler R, Rossi E, Barbierato L, Uccellatore F, Rocchi M, Zuffardi O, Fraccaro M. Maraschio P, et al. Among authors: zuffardi o. Hum Genet. 1996 Mar;97(3):382-6. doi: 10.1007/BF02185778. Hum Genet. 1996. PMID: 8786088

4

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O. Rossi E, et al. Among authors: zuffardi o. J Med Genet. 2008 Mar;45(3):147-54. doi: 10.1136/jmg.2007.054007. Epub 2007 Nov 15. J Med Genet. 2008. PMID: 18006671 Free article.

5

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.

Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O. Rossi E, et al. Among authors: zuffardi o. Eur J Med Genet. 2008 Nov-Dec;51(6):631-8. doi: 10.1016/j.ejmg.2008.06.010. Epub 2008 Jul 16. Eur J Med Genet. 2008. PMID: 18675947

6

Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.

Tiepolo L, Zuffardi O. Tiepolo L, et al. Among authors: zuffardi o. Hum Genet. 1976 Oct 28;34(2):119-24. doi: 10.1007/BF00278879. Hum Genet. 1976. PMID: 1002136

7

Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23.

Caiulo A, Nicolis S, Bianchi P, Zuffardi O, Bardoni B, Maraschio P, Ottolenghi S, Camerino G, Giglioni B. Caiulo A, et al. Among authors: zuffardi o. Hum Genet. 1991 Feb;86(4):388-90. doi: 10.1007/BF00201840. Hum Genet. 1991. PMID: 1999341

8

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

9

A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20.

Vivarelli R, Zuffardi O, Maraschio P, Anichini C, Scarinci R. Vivarelli R, et al. Among authors: zuffardi o. Hum Genet. 1988 Aug;79(4):385-8. doi: 10.1007/BF00282184. Hum Genet. 1988. PMID: 3410463

10

Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.

Zuffardi O, Gargantini L, Lambiase S, Lo Curto F, Maraschio P, Ford CE. Zuffardi O, et al. J Med Genet. 1987 Mar;24(3):177-80. doi: 10.1136/jmg.24.3.177. J Med Genet. 1987. PMID: 3573003 Free PMC article.

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