G

GIMELLI G.

Last name: GIMELLI G.

2005 (v1)

Publication

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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, RENATA GIORDA R. MARIGO V.

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Uploaded on: March 27, 2023
2007 (v1)

Publication

Metadata-only

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, MARIO

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Uploaded on: March 31, 2023
2007 (v1)

Publication

Metadata-only

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, RENATA GAROFALO, SILVIO TAVELLA, SARA

Longitudinal bone growth is determined by the process of endochondral ossification in the cartilaginous growth plate, which is located at both ends of vertebrae and long bones and involves many systemic hormones and local regulators. We report the molecular characterization of a de novo balanced t(2;7)(q37.1;q21.3) translocation in a young...

Uploaded on: April 14, 2023