Mazen, I. M.

Top Publications

Top Publications Authored or Co-Authored by "Mazen, I. M."

• Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: An extensive international experience of 55 patients

  Journal of Clinical Endocrinology and Metabolism, Volume 96, No. 2, Year 2011, Citations 176
• The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

  European Journal of Endocrinology, Volume 161, No. 2, Year 2009, Citations 116
• A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient

  Molecular Genetics and Metabolism, Volume 97, No. 4, Year 2009, Citations 113
• Changes over time in sex assignment for disorders of sex development

  Pediatrics, Volume 134, No. 3, Year 2014, Citations 97
• Severe early-onset obesity due to bioinactive leptin caused by a p.N103K mutation in the leptin gene

  Journal of Clinical Endocrinology and Metabolism, Volume 100, No. 9, Year 2015, Citations 74