Gimelli S - Search Results

1

Presence of 1q gain and absence of 7p gain are new predictors of local or metastatic relapse in localized resectable neuroblastoma.

Pezzolo A, Rossi E, Gimelli S, Parodi F, Negri F, Conte M, Pistorio A, Sementa A, Pistoia V, Zuffardi O, Gambini C. Pezzolo A, et al. Among authors: gimelli s. Neuro Oncol. 2009 Apr;11(2):192-200. doi: 10.1215/15228517-2008-086. Epub 2008 Oct 15. Neuro Oncol. 2009. PMID: 18923191 Free PMC article.

2

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

3

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

4

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

Bocciardi R, Giorda R, Buttgereit J, Gimelli S, Divizia MT, Beri S, Garofalo S, Tavella S, Lerone M, Zuffardi O, Bader M, Ravazzolo R, Gimelli G. Bocciardi R, et al. Among authors: gimelli s, gimelli g. Hum Mutat. 2007 Jul;28(7):724-31. doi: 10.1002/humu.20511. Hum Mutat. 2007. PMID: 17373680

5

Narrowing the deleted region associated with the 15q21 syndrome.

Pramparo T, Mattina T, Gimelli S, Liehr T, Zuffardi O. Pramparo T, et al. Among authors: gimelli s. Eur J Med Genet. 2005 Jul-Sep;48(3):346-52. doi: 10.1016/j.ejmg.2005.04.012. Eur J Med Genet. 2005. PMID: 16179230

6

De novo reciprocal translocation t(5;6)(q13;q34) in cattle: cytogenetic and molecular characterization.

De Lorenzi L, Rossi E, Gimelli S, Parma P. De Lorenzi L, et al. Among authors: gimelli s. Cytogenet Genome Res. 2014;142(2):95-100. doi: 10.1159/000356209. Epub 2013 Nov 22. Cytogenet Genome Res. 2014. PMID: 24280638

7

A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.

Gimelli S, Chrast J, Baban A, Henrichsen CN, Lerone M, Zuffardi O, Gimelli G, Reymond A. Gimelli S, et al. Among authors: gimelli g. Am J Med Genet A. 2010 May;152A(5):1285-94. doi: 10.1002/ajmg.a.33365. Am J Med Genet A. 2010. PMID: 20425838

8

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: gimelli s. 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.

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

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D. Ballarati L, et al. Among authors: gimelli s. J Med Genet. 2007 Jan;44(1):e60. doi: 10.1136/jmg.2006.043059. J Med Genet. 2007. PMID: 17209130 Free PMC article.

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