Gimelli G - Search Results

1

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.

2

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

3

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

4

Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.

Capra V, Mascelli S, Garrè ML, Nozza P, Vaccari C, Bricco L, Sloan-Béna F, Gimelli S, Cuoco C, Gimelli G, Tassano E. Capra V, et al. Among authors: gimelli s, gimelli g. PLoS One. 2013;8(3):e57910. doi: 10.1371/journal.pone.0057910. Epub 2013 Mar 6. PLoS One. 2013. PMID: 23483941 Free PMC article.

5

Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.

Occella C, Bleidl D, Nozza P, Mascelli S, Raso A, Gimelli G, Gimelli S, Tassano E. Occella C, et al. Among authors: gimelli s, gimelli g. PLoS One. 2013 Apr 10;8(4):e61311. doi: 10.1371/journal.pone.0061311. Print 2013. PLoS One. 2013. PMID: 23593459 Free PMC article.

6

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.

Cuoco C, Ronchetto P, Gimelli S, Béna F, Divizia MT, Lerone M, Mirabelli-Badenier M, Mascaretti M, Gimelli G. Cuoco C, et al. Among authors: gimelli s, gimelli g. Orphanet J Rare Dis. 2011 Apr 1;6:12. doi: 10.1186/1750-1172-6-12. Orphanet J Rare Dis. 2011. PMID: 21457564 Free PMC article.

7

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.

Gimelli S, Leoni M, Di Rocco M, Caridi G, Porta S, Cuoco C, Gimelli G, Tassano E. Gimelli S, et al. Among authors: gimelli g. Mol Cytogenet. 2013 Nov 26;6(1):52. doi: 10.1186/1755-8166-6-52. Mol Cytogenet. 2013. PMID: 24279697 Free PMC article.

8

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.

Tassano E, Gamucci A, Celle ME, Ronchetto P, Cuoco C, Gimelli G. Tassano E, et al. Among authors: gimelli g. Cytogenet Genome Res. 2015;146(1):39-43. doi: 10.1159/000431391. Epub 2015 Jun 19. Cytogenet Genome Res. 2015. PMID: 26112959

9

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.

Tassano E, Gimelli S, Divizia MT, Lerone M, Vaccari C, Puliti A, Gimelli G. Tassano E, et al. Among authors: gimelli s, gimelli g. Mol Cytogenet. 2015 Nov 5;8:87. doi: 10.1186/s13039-015-0188-6. eCollection 2015. Mol Cytogenet. 2015. PMID: 26550033 Free PMC article.

10

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Fiorio P, Rosaia De Santis L, Cuoco C, Gimelli G, Gastaldi R, Bonatti F, Ravazzolo R, Bocciardi R. Fiorio P, et al. Among authors: gimelli g. Gynecol Endocrinol. 2016;32(1):14-7. doi: 10.3109/09513590.2015.1106472. Epub 2015 Nov 16. Gynecol Endocrinol. 2016. PMID: 26572316 Free article.

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