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Results 1-9 of 9 (Search time: 0.035 seconds).
Issue DateTitleAuthor(s)
2016The Frequency of Pathogenic Copy Number Variants in Children with Short Stature of Unknown EtiologyCANTON, A.; HOMMA, T.; FURUYA, T.; ROELA, R.; ARNHOLD, I; JORGE, A.
2016RAB3IP and DGCR8 as a Potentially Pathogenic Novel Candidate Gene Involving in Growth DisordersHOMMA, Thais; FUNARI, Mariana; LERARIO, Antonio; FREIRE, Bruna; NISHI, Mirian; YAMAMOTO, Guilherme; NASLAVSKY, Michel; ZATZ, Mayana; ARNHOLD, Ivo; JORGE, Alexander
2016Final 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 VariantsFARIA 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.
2016Prospective Genetic Analysis of Patients with Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using Target Gene PanelNAKAGUMA, 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
2016Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown EtiologyCANTON, Ana; HOMMA, Thais; FURUYA, Tatiane; ROELA, Rosimeire; ARNHOLD, Ivo; JORGE, Alexander
2016Isolated Growth Hormone Deficiency with Advanced Bone Age: Phenotypic Interaction between GHRH Receptor and CYP21A2 Mutations Diagnosed by Sanger and Whole Exome SequencingCORREA, 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.
2016Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene PanelNAKAGUMA, 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
2016Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic SpectrumGKOUROGIANNI, Alexandra; ANDREW, Melissa; CROCKER, Melissa; DUNBAR, Nancy; JORGE, Alexander; LAFRANCHI, Stephen; LALANI, Seema; LEBL, Jan; LIN, Lynda; LOS, Evan; NEWBERN, Dorothee; NOWAK, Catherine; OLSON, Micah; POPOVIC, Jadranka; PRUHOVA, Stepanka; QUINTOS, Jose Bernardo; SENTCHORDI, Lucia; BARON, Jeffrey; NILSSON, Ola; DAUBER, Andrew
2016Whole-Exome Sequencing Reveals RAD51B Variant in Two Sisters with Primary Ovarian FailureFRANCA, Monica; FUNARI, Mariana; NISHI, Mirian; DOMENICE, Sorahia; LATRONICO, Ana Claudia; JORGE, Alexander; LERARIO, Antonio; MENDONCA, Berenice
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