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Issue Date | Title | Author(s) |
---|---|---|
2014 | Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly | BEAR, Kelly A.; SOLOMON, Benjamin D.; ANTONINI, Sonir; ARNHOLD, Ivo J. P.; FRANCA, Marcela M.; GERKES, Erica H.; GRANGE, Dorothy K.; HADLEY, Donald W.; JAASKELAINEN, Jarmo; PAULO, Sabrina S.; RUMP, Patrick; STRATAKIS, Constantine A.; THOMPSON, Elizabeth M.; WILLIS, Mary; WINDER, Thomas L.; JORGE, Alexander A. L.; ROESSLER, Erich; MUENKE, Maximilian |
2014 | Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders | VASQUES, Gabriela A.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L. |
2014 | 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 | BRAZ, Adriana F.; COSTALONGA, Everlayny F.; TRARBACH, Ericka B.; SCALCO, Renata C.; MALAQUIAS, Alexsandra C.; GUERRA-JUNIOR, Gil; ANTONINI, Sonir R. R.; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L. |
2014 | Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay | BENEDUZZI, Daiane; TRARBACH, Ericka B.; MIN, Le; JORGE, Alexander A. L.; GARMES, Heraldo M.; RENK, Alessandra Covallero; FICHNA, Marta; FICHNA, Piotr; ARANTES, Karina A.; COSTA, Elaine M. F.; ZHANG, Anna; ADEOLA, Oluwaseun; WEN, Junping; CARROLL, Rona S.; MENDONCA, Berenice B.; KAISER, Ursula B.; LATRONICO, Ana Claudia; SILVEIRA, Leticia F. G. |
2014 | Further Evidence of the Importance of RIT1 in Noonan Syndrome | BERTOLA, Debora R.; YAMAMOTO, Guilherme L.; ALMEIDA, Tatiana F.; BUSCARILLI, Michelle; JORGE, Alexander A. L.; MALAQUIAS, Alexsandra C.; KIM, Chong A.; TAKAHASHI, Vanessa N. V.; PASSOS-BUENO, Maria Rita; PEREIRA, Alexandre C. |
2014 | The E180splice Mutation in the GHR Gene Causing Laron Syndrome: Witness of a Sephardic Jewish Exodus from the Iberian Peninsula to the New World? | GONCALVES, Fernanda T.; FRIDMAN, Cintia; PINTO, Emilia M.; GUEVARA-AGUIRRE, Jaime; SHEVAH, Orit; ROSEMBLOOM, Arlan L.; HWA, Vivian; CASSORLA, Fernando; ROSENFELD, Ron G.; LINS, Theresa S. S.; DAMIANI, Durval; ARNHOLD, Ivo J. P.; LARON, Zvi; JORGE, Alexander A. L. |
2014 | Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways | CANTON, Ana P. M.; COSTA, Silvia S.; RODRIGUES, Tatiane C.; BERTOLA, Debora R.; MALAQUIAS, Alexsandra C.; CORREA, Fernanda A.; ARNHOLD, Ivo J. P.; ROSENBERG, Carla; JORGE, Alexander A. L. |
2014 | A Novel Homologous Model for Gene Therapy of Dwarfism by Non-Viral Transfer of the Mouse Growth Hormone Gene into Immunocompetent Dwarf Mice | CECCHI, Claudia R.; HIGUTI, Eliza; OLIVEIRA, Nelio A. J.; LIMA, Eliana R.; JAKOBSEN, Maria; DAGNAES-HANSEN, Frederick; GISSEL, Hanne; AAGAARD, Lars; JENSEN, Thomas G.; JORGE, Alexander A. L.; BARTOLINI, Paolo; PERONI, Cibele N. |
2014 | Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort | LIDO, Andria C. V.; FRANCA, Marcela M.; CORREA, Fernanda A.; OTTO, Aline P.; CARVALHO, Luciani R.; QUEDAS, Elisangela P. S.; NISHI, Mirian Y.; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L. |
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