GIMELLI S

Last name: GIMELLI S

2007 (v1)

Publication

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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

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Uploaded on: March 27, 2023
2007 (v1)

Publication

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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
2010 (v1)

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The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia

ROSSI, PIA RAVAZZOLO, ROBERTO PULITI, ALDAMARIA

The metabotropic glutamate (mGlu) 1 receptor, coded by the GRM1 gene, is involved in synaptic activities, learning and neuroprotection. Eleven different mouse Grm1 mutations, either induced or spontaneously occurring, have been reported, including one from our group. All the mutations result in a complex phenotype with ataxia and intention...

Uploaded on: March 31, 2023
2010 (v1)

Publication

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A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

MARINI M BOCCIARDI R GIMELLI S

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Uploaded on: April 14, 2023

GIMELLI S

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