Gimelli G - Search Results

1

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: gimelli s. 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

2

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: gimelli s. 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

3

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.

De Marco P, Raso A, Beri S, Gimelli S, Merello E, Mascelli S, Baldi M, Baffico AM, Pavanello M, Cama A, Capra V, Giorda R, Gimelli G. De Marco P, et al. Among authors: gimelli s, gimelli g. Eur J Med Genet. 2011 Sep-Oct;54(5):e478-83. doi: 10.1016/j.ejmg.2011.05.007. Epub 2011 Jun 25. Eur J Med Genet. 2011. PMID: 21708297

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: gimelli g. 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. 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. Hum Mol Genet. 2003 Apr 15;12(8):849-58. doi: 10.1093/hmg/ddg101. Hum Mol Genet. 2003. PMID: 12668608

7

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

8

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.

Bocciardi R, Giorda R, Marigo V, Zordan P, Montanaro D, Gimelli S, Seri M, Lerone M, Ravazzolo R, Gimelli G. Bocciardi R, et al. Among authors: gimelli s, gimelli g. Hum Mutat. 2005 Nov;26(5):426-36. doi: 10.1002/humu.20235. Hum Mutat. 2005. PMID: 16145689

9

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: gimelli s. 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

10

The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.

Panza E, Gimelli G, Passalacqua M, Cohen A, Gimelli S, Giglio S, Ghezzi C, Sparatore B, Heye B, Zuffardi O, Rugarli E, Meitinger T, Romeo G, Ravazzolo R, Seri M. Panza E, et al. Among authors: gimelli s, gimelli g. Int J Mol Med. 2007 Mar;19(3):429-35. Int J Mol Med. 2007. PMID: 17273791

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