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Start Over Author "Gatta, V" Journal journal of endocrinological investigation
8 results on '"Gatta, V"'

5. Erratum to: Y-chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions

Author

Paracchini, S., primary, Stuppia, L., additional, Gatta, V., additional, Palka, G., additional, Moro, E., additional, Foresta, C., additional, Mengua, L., additional, Oliva, R., additional, BaIlescà, J. L., additional, Kremer, J. A. M., additional, van Golde, R. J. T., additional, Tuerlings, J. H. A. M., additional, Hargreave, T., additional, Ross, A., additional, Cooke, H., additional, Huellen, K., additional, Vogt, P. H., additional, and Tyler-Smith, C., additional

Published
2001
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6. Characterization of novel genes in AZF regions

Author

Stuppia, L., primary, Gatta, V., additional, Fogh, I., additional, Gaspari, A. R., additional, Grande, R., additional, Morizio, E., additional, Fantasia, D., additional, Pizzuti, A., additional, Calabrese, G., additional, and Palka, Giandomenico, additional

Published
2000
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7. Y-chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions

Author

Paracchini, S., primary, Stuppia, L., additional, Gatta, V., additional, Palka, G., additional, Moro, E., additional, Foresta, C., additional, Mengua, L., additional, Oliva, R., additional, BaIlescà, J. L., additional, Kremer, J. A. M., additional, van Golde, R. J. T., additional, Tuerlings, J. H. A. M., additional, Hargreave, T., additional, Ross, A., additional, Cooke, H., additional, Huellen, K., additional, Vogt, P. H., additional, and Tyler-Smith, Chris, additional

Published
2000
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8. Different approaches in the molecular analysis of the SHOX gene dysfunctions.

Author

Stuppia L, Gatta V, Antonucci I, Giuliani R, and Palka G

Subjects
Dwarfism, Pituitary diagnosis, Dwarfism, Pituitary genetics, Enhancer Elements, Genetic genetics, Female, Genetic Testing methods, Growth Disorders diagnosis, Growth Disorders genetics, Humans, Male, Osteochondrodysplasias diagnosis, Osteochondrodysplasias genetics, Short Stature Homeobox Protein, Homeodomain Proteins genetics, Homeodomain Proteins physiology, Mutation genetics, Nucleic Acid Amplification Techniques
Abstract

Deficit of the short stature homeobox containing gene (SHOX) accounts for 2.15% of cases of idiopathic short stature (ISS) and 50-100% of cases of Leri-Weill dyschondrosteosis (LWD). It has been demonstrated that patients with SHOX deficit show a good response to treatment with GH. Thus, the early identification of SHOX alterations is a crucial point in order to choose the best treatment for ISS and LWD patients. In this study, we analyze the most commonly used molecular techniques for the detection of SHOX gene alterations. multiple ligation-dependent probe amplification analysis appears to represent the gold standard for the detection of deletion involving the SHOX gene or the enhancer region, being able to show both alterations in a single assay.

Published
2010

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