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Results 21-30 of 43 (Search time: 0.015 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2018 | Genetic Causes of Short Stature in Patients with Previously Diagnosed as Idiopathic Prenatal Short Stature | HOMMA, Thais; FREIRE, B.; FUNARI, M.; LERARIO, M.; MALAQUIAS, A.; JORGE, A. |
| 2015 | A Homozygous Point Mutation in the GH1 Promoter (-161T > C) Leads to Reduced GH Expression in Siblings with Isolated GH Deficiency (IGHD) | CARVALHO, L.; MADEIRA, J.; MARTIN, R.; MONTENEGRO, L.; FRANCA, M.; COSTALONGA, E.; CORREA, F.; OTTO, A.; ARNHOLD, I; FREITAS, H.; MACHADO, U.; MENDONCA, B.; JORGE, A. |
| 2015 | Children with Noonan and Noonan-Like Syndromes Had a Lipid Profile Resembling Metabolic Syndrome and Type 2 Diabetes | MALAQUIAS, A.; HOMMA, T.; MORAES, M.; FUNARI, M.; PEREIRA, A.; VILLARES, S.; BERTOLA, D.; JORGE, A. |
| 2016 | RAB3IP and DGCR8 as a Potentially Pathogenic Novel Candidate Gene Involving in Growth Disorders | HOMMA, Thais; FUNARI, Mariana; LERARIO, Antonio; FREIRE, Bruna; NISHI, Mirian; YAMAMOTO, Guilherme; NASLAVSKY, Michel; ZATZ, Mayana; ARNHOLD, Ivo; JORGE, Alexander |
| 2016 | Final Adult Height of Patients with Disorders of Sex Development (DSD) Associated with Sex Chromosome Abnormalities 45,X/46,XY or 45,X/46,X,+Y Variants | FARIA JUNIOR, J. A. D.; GOMES, N. L.; BATISTA, R. L.; MORAES, D. R.; SCALCO, R.; NISHI, M. Y.; JORGE, A. A. L.; ULTRA, M. A. M. S.; COSTA, E. M. F.; MENDONCA, B. B.; DOMENICE, S. |
| 2016 | Prospective Genetic Analysis of Patients with Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using Target Gene Panel | NAKAGUMA, M.; JORGE, A. Augusto de Lima; FUNARI, M. Ferreira de Assis; LERARIO, Marcondes A.; CARVALHO, L. Renata Silveira de; MENDONCA, B. Bilharinho de; ARNHOLD, I Jorge Prado |
| 2016 | Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown Etiology | CANTON, Ana; HOMMA, Thais; FURUYA, Tatiane; ROELA, Rosimeire; ARNHOLD, Ivo; JORGE, Alexander |
| 2016 | Isolated Growth Hormone Deficiency with Advanced Bone Age: Phenotypic Interaction between GHRH Receptor and CYP21A2 Mutations Diagnosed by Sanger and Whole Exome Sequencing | CORREA, F. A.; FRANCA, M. M.; FANG, Q.; MA, Q.; OZEL, B. A.; BACHEGA, T. A.; RODRIGUES, A.; LI, J. Z.; MENDONCA, B. B.; JORGE, A. A. L.; CARVALHO, L. R.; CAMPER, S. A.; ARNHOLD, I. J. P. |
| 2016 | Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel | NAKAGUMA, Marilena; JORGE, Alexander Augusto de Lima; FUNARI, Mariana Ferreira de Assis; LERARIO, Antonio Marcondes; CORREAA, Fernanda de Azevedo; CARVALHOA, Luciani Renata Silveira de; MENDONCA, Berenice Bilharinho de; ARNHOLD, Ivo Jorge Prado |
| 2015 | Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes | CORREA, F.; FRANCA, M.; CANTON, A.; OTTO, A.; COSTALONGA, E.; BRITO, V; CARVALHO, L.; COSTA, S.; ARNHOLD, I; JORGE, A.; ROSENBERG, C.; MENDONCA, B. |