Gimelli S - Search Results

1

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

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 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

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

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

6

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

Griseri P, Vos Y, Giorda R, Gimelli S, Beri S, Santamaria G, Mognato G, Hofstra RM, Gimelli G, Ceccherini I. Griseri P, et al. Among authors: gimelli s, gimelli g. Eur J Hum Genet. 2009 Apr;17(4):483-90. doi: 10.1038/ejhg.2008.191. Epub 2008 Oct 29. Eur J Hum Genet. 2009. PMID: 19300444 Free PMC article.

7

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

8

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O. Bonaglia MC, et al. Among authors: gimelli s, gimelli g. Eur J Hum Genet. 2008 Dec;16(12):1443-9. doi: 10.1038/ejhg.2008.119. Epub 2008 Jul 23. Eur J Hum Genet. 2008. PMID: 18648397

9

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

Gimelli S, Caridi G, Beri S, McCracken K, Bocciardi R, Zordan P, Dagnino M, Fiorio P, Murer L, Benetti E, Zuffardi O, Giorda R, Wells JM, Gimelli G, Ghiggeri GM. Gimelli S, et al. Among authors: gimelli g. Hum Mutat. 2010 Dec;31(12):1352-9. doi: 10.1002/humu.21378. Epub 2010 Nov 9. Hum Mutat. 2010. PMID: 20960469 Free PMC article.

10

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.

Tassano E, Buttgereit J, Bader M, Lerone M, Divizia MT, Bocciardi R, Napoli F, Pala G, Sloan-Béna F, Gimelli S, Gimelli G. Tassano E, et al. Among authors: gimelli s, gimelli g. PLoS One. 2013 Jun 21;8(6):e66048. doi: 10.1371/journal.pone.0066048. Print 2013. PLoS One. 2013. PMID: 23805197 Free PMC article.

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