María Caimari

Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development

Laura Audí, Mónica Fernández‐Cancio, Antonio Carrascosa et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 145 citations · Full text

Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

Sara Benito‐Sanz, Eva Barroso, Damián Heine‐Suñer et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 74 citations · Full text

Primary Acid-Labile Subunit Deficiency due to Recessive<i>IGFALS</i>Mutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia

Karen E. Heath, Jesús Argente, Vicente Barrios et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 70 citations · Full text

Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis

Jana Malíková, Núria Camats, Mónica Fernández‐Cancio et al. · PLoS ONE · 2014 · 44 citations · Full text

Structural Pituitary Abnormalities Associated With CHARGE Syndrome

Louise Gregory, Evelien Gevers, J. Scott Baker et al. · The Journal of Clinical Endocrinology & Metabolism · 2013 · 44 citations · Full text