Alicia Belgorosky

Research interests

Publications

• Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( WT1 ) gene

  Proceedings of the National Academy of Sciences · 2020 · 10.1073/pnas.1921676117

• Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

  Proceedings of the National Academy of Sciences · 2017 · 10.1073/pnas.1621082114

• Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment

  Clinical Endocrinology · 2014 · 10.1111/cen.12555

• Latin American Consensus: Children Born Small for Gestational Age

  BMC Pediatrics · 2011 · 10.1186/1471-2431-11-66

• Steroid 21‐hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype–phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia

  Clinical Endocrinology · 2011 · 10.1111/j.1365-2265.2011.04123.x

• Thyroid axis dysfunction in patients with Prader‐Willi syndrome during the first 2 years of life

  Clinical Endocrinology · 2010 · 10.1111/j.1365-2265.2010.03840.x

• 46,XY DSD due to impaired androgen production

  Best Practice & Research Clinical Endocrinology & Metabolism · 2010 · 10.1016/j.beem.2009.11.003

• Three New SF-1 (NR5A1) Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects

  Hormone Research in Paediatrics · 2010 · 10.1159/000320029

• Genetic and Clinical Spectrum of Aromatase Deficiency in Infancy, Childhood and Adolescence

  Hormone Research in Paediatrics · 2009 · 10.1159/000249159

• Adrenarche: Postnatal Adrenal Zonation and Hormonal and Metabolic Regulation

  Hormone Research in Paediatrics · 2008 · 10.1159/000157871

• Defects in growth hormone receptor signaling

  Trends in Endocrinology and Metabolism · 2007 · 10.1016/j.tem.2007.03.004

• Variations in Biological and Immunological Activity of Growth Hormone during the Neonatal Period

  Hormone Research in Paediatrics · 2007 · 10.1159/000100990

• Characterization of Immunodeficiency in a Patient With Growth Hormone Insensitivity Secondary to a Novel STAT5b Gene Mutation

  PEDIATRICS · 2006 · 10.1542/peds.2005-2882

• Unexpected Peripheral Markers of Thyroid Function in a Patient with a Novel Mutation of the MCT8 Thyroid Hormone Transporter Gene

  Hormone Research in Paediatrics · 2006 · 10.1159/000095805

• Expression of Aromatase, Estrogen Receptor α and β, Androgen Receptor, and Cytochrome P-450scc in the Human Early Prepubertal Testis

  Pediatric Research · 2006 · 10.1203/01.pdr.0000246072.04663.bb

• Expression of the IGF System in Human Adrenal Tissues from Early Infancy to Late Puberty: Implications for the Development of Adrenarche

  Pediatric Research · 2005 · 10.1203/01.pdr.0000179392.59060.93

• Relationship between the Growth Hormone/Insulin-Like Growth Factor-I Axis, Insulin Sensitivity, and Adrenal Androgens in Normal Prepubertal and Pubertal Girls

  The Journal of Clinical Endocrinology & Metabolism · 2003 · 10.1210/jc.2002-020979

• Hypothalamic-Pituitary-Ovarian Axis during Infancy, Early and Late Prepuberty in an Aromatase-Deficient Girl Who Is a Compound Heterocygote for Two New Point Mutations of the CYP19 Gene

  The Journal of Clinical Endocrinology & Metabolism · 2003 · 10.1210/jc.2003-030433

• Relationship between the GH/IGF-I Axis, Insulin Sensitivity, and Adrenal Androgens in Normal Prepubertal and Pubertal Boys

  The Journal of Clinical Endocrinology & Metabolism · 2002 · 10.1210/jcem.87.3.8330

• Apoptosis and Proliferation of Human Testicular Somatic and Germ Cells during Prepuberty: High Rate of Testicular Growth in Newborns Mediated by Decreased Apoptosis

  The Journal of Clinical Endocrinology & Metabolism · 2002 · 10.1210/jc.2002-020032

• Precocious puberty in children with tumours of the suprasellar and pineal areas: Organic central precocious puberty

  Acta Paediatrica · 2001 · 10.1111/j.1651-2227.2001.tb02800.x

• Mutations of the Steroid 21-Hydroxylase Gene in an Argentinian Population of 36 Patients with Classical Congenital Adrenal Hyperplasia

  Journal of Pediatric Endocrinology and Metabolism · 1997 · 10.1515/jpem.1997.10.1.55

Current projects

No projects listed.