E180Splice Mutation in the Growth Hormone Receptor Gene in a Chilean Family with Growth Hormone Insensitivity: A Probable Common Mediterranean Ancestor

Articles in the same Issue

1. TABLE OF CONTENTS
2. How Should We Diagnose and Monitor Central Precocious Puberty?
3. Growth Hormone Receptor Deficiency in South America: Colonial History, Molecular Biology, and Growth and Metabolic Insights
4. Congenital Anodontia in Ectodermal Dysplasia
5. The Diagnostic Value of a Brief GnRH Analogue Stimulation Test in Girls with Central Precocious Puberty: A Single 30-minute Post-stimulation LH Sample is Adequate
6. E180Splice Mutation in the Growth Hormone Receptor Gene in a Chilean Family with Growth Hormone Insensitivity: A Probable Common Mediterranean Ancestor
7. Reliability of the Low Dose Synacthen Test in Children Undergoing Pituitary Function Testing
8. The Leptin/Adiponectin Ratio in Mid-Infancy Correlates with Weight Gain in Healthy Term Infants, but is Unrelated to Serum Insulin Concentrations, Body Mass Index, or Skin Fold Thickness
9. Identification of Sequence Variants in the UBL5 (Ubiquitin-like 5 or BEACON) Gene in Obese Children by PCR-SSCP: No Evidence for Association with Obesity
10. Characteristics of Primary Hyperparathyroidism in Adolescents
11. Bone Mineral Density in Girls with Classical Congenital Adrenal Hyperplasia due to CYP21 Deficiency
12. Economic Family Burden of Metabolic Control in Children and Adolescents with Type I Diabetes Mellitus
13. Simultaneous Suprasellar and Pineal Germ Cell Tumors in Five Late Stage Adolescents: Endocrinological Studies and Prolonged Follow-up
14. Thyroidectomy in a Patient with Multinodular Dyshormonogenetic Goitre - A Case of Pendred Syndrome Confirmed by Mutations in the PDS/SLC26A4 Gene
15. A New Mitochondrial Mutation in a Patient with Diabetes Mellitus, Deafness, Hydronephrosis and Joint Contractures
16. Recurrent Acute Pancreatitis in a Child with Primary Hyperparathyroidism
17. CALENDAR. INDEX