Alexander A. L. Jorge
Unidade de Endocrinologia do Desenvolvimento
Laboratorio de Hormonios e Genetica Molecular LIM/42
Disciplina de Endocrinologia
Hospital das Clinicas
Brazil
Name/email consistency: high
- Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Jorge, A.A., Malaquias, A.C., Arnhold, I.J., Mendonca, B.B. Horm. Res. (2009)
- Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment. Jorge, A.A., Arnhold, I.J. Horm. Res. (2009)
- SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Jorge, A.A., Souza, S.C., Nishi, M.Y., Billerbeck, A.E., Libório, D.C., Kim, C.A., Arnhold, I.J., Mendonca, B.B. Clin. Endocrinol. (Oxf) (2007)
- 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. Jorge, A.A., Marchisotti, F.G., Montenegro, L.R., Carvalho, L.R., Mendonca, B.B., Arnhold, I.J. J. Clin. Endocrinol. Metab. (2006)
- The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration. Jorge, A.A., Souza, S.C., Arnhold, I.J., Mendonca, B.B. Clin. Endocrinol. (Oxf) (2004)
