Zuffardi O - Search Results

1

Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

Ghiggeri GM, Caridi G, Altieri P, Pezzolo A, Gimelli G, Zuffardi O. Ghiggeri GM, et al. Among authors: zuffardi o. Hum Genet. 1993 Mar;91(2):175-7. doi: 10.1007/BF00222720. Hum Genet. 1993. PMID: 8462976

2

Definitive assignment of the growth hormone-releasing factor gene to 20q11.2.

Pezzolo A, Gimelli G, Sposito M, Giussani U, Rossi E, Zuffardi O. Pezzolo A, et al. Among authors: zuffardi o. Hum Genet. 1994 Feb;93(2):213-4. doi: 10.1007/BF00210616. Hum Genet. 1994. PMID: 8112752

3

Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.

Pezzolo A, Gimelli G, Cohen A, Lavaggetto A, Romano C, Fogu G, Zuffardi O. Pezzolo A, et al. Among authors: zuffardi o. Hum Genet. 1993 Aug;92(1):23-7. doi: 10.1007/BF00216140. Hum Genet. 1993. PMID: 8365723

4

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.

5

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).

Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M. Gimelli G, et al. Among authors: zuffardi o. Hum Genet. 2002 Sep;111(3):235-41. doi: 10.1007/s00439-002-0791-6. Epub 2002 Aug 1. Hum Genet. 2002. PMID: 12215835

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

A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines.

Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi O. Gimelli G, et al. Among authors: zuffardi o. Eur J Med Genet. 2007 Jul-Aug;50(4):264-73. doi: 10.1016/j.ejmg.2007.04.003. Epub 2007 May 6. Eur J Med Genet. 2007. PMID: 17567547

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: 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

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

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Gimelli G, Gimelli S, Dimasi N, Bocciardi R, Di Battista E, Pramparo T, Zuffardi O. Gimelli G, et al. Among authors: zuffardi o. Eur J Hum Genet. 2007 Jan;15(1):76-80. doi: 10.1038/sj.ejhg.5201719. Epub 2006 Oct 25. Eur J Hum Genet. 2007. PMID: 17063144

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