Mazzanti, Laura

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., Cordeddu, V., Lepri, F., et al. (2009) · Human Mutation

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

Martinelli, S., De Luca, A., Stellacci, E., Rossi, C., Checquolo, S., Lepri, F., Caputo, V., Silvano, M., Buscherini, F., Consoli, F., et al. (2010) · The American Journal of Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 259

Oxidative Stress and Erythrocyte Membrane Alterations in Children with Autism: Correlation with Clinical Features

Ghezzo, A., Visconti, P., Abruzzo, P. M., Bolotta, A., Ferreri, C., Gobbi, G., Malisardi, G., Manfredini, S., Marini, M., Nanetti, L., et al. (2013) · PLoS ONE

Autism Spectrum Disorder ResearchAntioxidant Activity and Oxidative Stress

Cited by 164

New insights on diabetes in Turner syndrome: results from an observational study in adulthood

Ibarra-Gasparini, D., Altieri, P., Scarano, E., Perri, A., Morselli-Labate, A. M., Pagotto, U., Mazzanti, L., Pasquali, R., & Gambineri, A. (2018) · Endocrine

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesDiabetes, Cardiovascular Risks, and Lipoproteins

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Early treatment with GH alone in Turner syndrome: prepubertal catch-up growth and waning effect

Wasniewska, M., De Luca, F., Bergamaschi, R., Guarneri, M., Mazzanti, L., Matarazzo, P., Petri, A., Crisafulli, G., Salzano, G., & Lombardo, F. (2004) · European Journal of Endocrinology

Growth Hormone and Insulin-like Growth FactorsGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 30

New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study

Gambineri, A., Scarano, E., Rucci, P., Perri, A., Tamburrino, F., Altieri, P., Corzani, F., Cecchetti, C., Dionese, P., Belardinelli, E., et al. (2022) · Journal of Endocrinological Investigation

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

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