All Stories

  1. IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children

    Article • Journal of Pediatric Endocrinology and Metabolism, February 2019, De Gruyter

    Professor Alexander A L Jorge, Professor Berenice B Mendonca

  2. IHH gene mutations causing short stature with non-specific skeletal abnormalities and response to growth hormone therapy

    Article • The Journal of Clinical Endocrinology & Metabolism, November 2017, Endocrine Society

    Professor Alexander A L Jorge, Michel Naslavsky

  3. MANAGEMENT OF ENDOCRINE DISEASE: Diagnostic and therapeutic approach of tall stature

    Article • European Journal of Endocrinology, March 2017, Bioscientifica

    Professor Alexander A L Jorge

  4. Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2017, De Gruyter

    Professor Alexander A L Jorge

  5. Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

    Article • The Journal of Clinical Endocrinology & Metabolism, November 2016, Endocrine Society

    Professor Alexander A L Jorge, Dr Marwan Shinawi, MD Stephen H LaFranchi, Mrs Alexandra Gkourogianni, Andrew Dauber

  6. STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability

    Article • June 2015, Bioscientifica

    Professor Alexander A L Jorge

  7. Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort

    Article • Growth Hormone & IGF Research, October 2014, Elsevier

    Berenice Mendonca, Professor Alexander A L Jorge, Professor Berenice B Mendonca

  8. Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism

    Article • The Journal of Clinical Endocrinology & Metabolism, September 2014, Endocrine Society

    Berenice Mendonca, Professor Alexander A L Jorge, Professor Berenice B Mendonca

  9. Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways

    Article • May 2014, Bioscientifica

    Professor Alexander A L Jorge

  10. The E180splice mutation in theGHRgene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

    Article • American Journal of Medical Genetics Part A, March 2014, Wiley

    Professor Alexander A L Jorge

  11. Developmental Syndromes of Ras/MAPK Pathway Dysregulation

    Article • March 2014, Wiley

    Professor Alexander A L Jorge

  12. Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders

    Article • Hormone Research in Paediatrics, January 2014, Karger Publishers

    Professor Alexander A L Jorge

  13. Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

    Article • The Journal of Clinical Endocrinology & Metabolism, October 2013, Endocrine Society

    Professor Alexander A L Jorge

  14. Genetics of SHOX Deficiency

    Article • July 2012, Wiley

    Professor Alexander A L Jorge

  15. The Interactive Effect ofGHR-Exon 3and −202 A/C IGFBP3Polymorphisms on rhGH Responsiveness and Treatment Outcomes in Patients with Turner Syndrome

    Article • The Journal of Clinical Endocrinology & Metabolism, April 2012, Endocrine Society

    Berenice Mendonca, Professor Alexander A L Jorge, Professor Berenice B Mendonca

  16. Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11

    Article • December 2011, Bioscientifica

    Professor Alexander A L Jorge, Professor Berenice B Mendonca

  17. Mutações no gene do receptor do fator de crescimento insulina-símile 1 (IGF1R) como causa de retardo do crescimento pré- e pós-natal

    Article • Arquivos Brasileiros de Endocrinologia & Metabologia, November 2011, FapUNIFESP (SciELO)

    Professor Alexander A L Jorge

  18. Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant

    Article • Growth Hormone & IGF Research, April 2009, Elsevier

    Berenice Mendonca, Professor Alexander A L Jorge, Professor Berenice B Mendonca

  19. Investigação de baixa estatura: aspectos clínicos, laboratoriais e moleculares da insensibilidade ao hormônio de crescimento

    Article • Arquivos Brasileiros de Endocrinologia & Metabologia, August 2008, FapUNIFESP (SciELO)

    Professor Alexander A L Jorge

  20. Tratamento com hormônio de crescimento: aspectos moleculares, clínicos e terapêuticos

    Article • Arquivos Brasileiros de Endocrinologia & Metabologia, July 2008, FapUNIFESP (SciELO)

    Professor Alexander A L Jorge

  21. Diagnosis and Long-Term Human Growth Hormone Treatment of a Boy with Noonan Syndrome

    Article • Hormone Research in Paediatrics, January 2007, Karger Publishers

    Professor Alexander A L Jorge

  22. Growth Hormone (GH) Pharmacogenetics: Influence of GH Receptor Exon 3 Retention or Deletion on First-Year Growth Response and Final Height in Patients with Severe GH Deficiency

    Article • The Journal of Clinical Endocrinology & Metabolism, March 2006, Endocrine Society

    Berenice Mendonca, Professor Alexander A L Jorge, Professor Berenice B Mendonca

  23. PTPN11(Protein Tyrosine Phosphatase, Nonreceptor Type 11) Mutations and Response to Growth Hormone Therapy in Children with Noonan Syndrome

    Article • The Journal of Clinical Endocrinology & Metabolism, September 2005, Endocrine Society

    Berenice Mendonca, Professor Alexander A L Jorge, Professor Berenice B Mendonca

  24. Acromegalic features in growth hormore (GH)‐deficient patients after long‐term GH therapy

    Article • Clinical Endocrinology, November 2003, Wiley

    Berenice Mendonca, Professor Alexander A L Jorge, Professor Berenice B Mendonca