Mónica Fernández‐Cancio
Instituto de Salud Carlos III(ES)Vall d'Hebron Institut de Recerca(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Instituto de Investigación de Enfermedades Raras(ES)
Publications by Year
Research Areas
Sexual Differentiation and Disorders, Growth Hormone and Insulin-like Growth Factors, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Hormonal and reproductive studies, Birth, Development, and Health
Most-Cited Works
- → Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome(2017)174 cited
- → Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development(2010)145 cited
- → Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals(2012)132 cited
- → Rickets in the Middle East: Role of Environment and Genetic Predisposition(2008)131 cited
- → Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia(2011)90 cited
- → The d3/fl-Growth Hormone (GH) Receptor Polymorphism Does Not Influence the Effect of GH Treatment (66 μg/kg per Day) or the Spontaneous Growth in Short Non-GH-Deficient Small-for-Gestational-Age Children: Results from a Two-Year Controlled Prospective Study in 170 Spanish Patients