Alba Pilotta

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Francesca Romana Lepri, Alessandro De Luca, Lorenzo Stella et al. · Human Mutation · 2011 · 126 citations · Full text

Etiology of Central Precocious Puberty in Males: The Results of the Italian Study Group for Physiopathology of Puberty

Vincenzo De Sanctis, Andrea Corrias, V. Rizzo et al. · Journal of Pediatric Endocrinology and Metabolism · 2000 · 117 citations

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

Immunodeficiencies, Genetics, Pathology +20

The Italian National Survey for Prader–Willi syndrome: An epidemiologic study

Graziano Grugni, Antonino Crinò, Laura Bosio et al. · American Journal of Medical Genetics Part A · 2008 · 100 citations · Full text

Genetic Epidemiology, Epidemiologic Research, Pws Living +17

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

Marco Bonomi, Valeria Vezzoli, Csilla Krausz et al. · European Journal of Endocrinology · 2017 · 98 citations · Full text