Scientific Programme, ePosters & Abstracts
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Analysis of Steroid 5-Alpha Reductase 2 (SRD5A2) Gene in Patients with 46,XY Disorder of Sex Development | ESPE2014 Souza Giselle Neres de; Aline Zamboni Machado; Arnhold Ivo Jorge Prado; Berenice Mendonca; Sircili Maria Helena Palma; Mirian Yu http://abstracts.eurospe.org/hrp/0082/hrp0082p2-d2-574.htm Published: 2014-08-28
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Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature | ESPE2018 Thais Homma; Bruna Freire; Rachel Ronjo; Andrew Dauber; Mariana Funari; Antonio Lerario; Ivo Arnhold; Ana Canton; Sofia Sugayama http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p177.htm Published: 2018-08-28
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Novel Variants in the POU1F1 Beta Isoform are Associated with Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency | ESPE2018 Julia Hoppmann; Denise Rockstroh-Lippold; Peter Gergics; Marilena Nakaguma; Luciani Renata Silveira Carvalho; Heike Pfaeffle; Ra http://abstracts.eurospe.org/hrp/0089/hrp0089fc9.1.htm Published: 2018-08-28
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Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel | ESPE2016 Marilena Nakaguma; Lima Jorge Alexanr Augusto de; Assis Funari Mariana Ferreira de; Antonio Marcondes Lerario; Azevedo Correa Fe http://abstracts.eurospe.org/hrp/0086/hrp0086rfc14.4.htm Published: 2016-08-19
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Growth Hormone (GH) Deficiency Type II: Clinical and Molecular Evidence of Impaired Regulated GH Secretion Due to an Gln181Arg GH-1 Gene Mutation | ESPE2016 Maria Consolata Miletta; Andree Eble; Ivo J P Arnhold; Andrew Dauber; Christa Fluck; Amit Pandey http://abstracts.eurospe.org/hrp/0086/hrp0086rfc6.6.htm Published: 2016-08-19
RAB3IP and DGCR8 as a Potentially Pathogenic Novel Candidate Gene Involving in Growth Disorders | ESPE2016 Thais Homma; Mariana Funari; Antonio Lerario; Bruna Freire; Mirian Nishi; Guilherme Yamamoto; Michel Naslavsky; Mayana Zatz; Ivo http://abstracts.eurospe.org/hrp/0086/hrp0086rfc6.2.htm Published: 2016-08-19
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Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown Etiology | ESPE2016 Ana Canton; Thais Homma; Tatiane Furuya; Rosimeire Roela; Ivo Arnhold; Alexander Jorge http://abstracts.eurospe.org/hrp/0086/hrp0086fc6.5.htm Published: 2016-08-19
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Genetic Causes of Disproportional Short Stature Identified by Whole Exome Sequencing | ESPE2015 Mariana F A Funari; Gabriela A Vasques; Antonio M Lerario; Bruna L Freire; Mirian Y Nishi; Monica M Franca; Sueli M O Shinjo; Su http://abstracts.eurospe.org/hrp/0084/hrp0084lbp-1268.htm Published: 2015-08-26
Birth Characteristics Influence the Male to Female Diagnostic Prevalence of Idiopathic GH Deficiency | ESPE2015 Cecilia Camacho-Hubner; Anders Lindberg; Ivo J P Arnhold; Michael B Ranke http://abstracts.eurospe.org/hrp/0084/hrp0084p3-1034.htm Published: 2015-08-26
GH Deficiency with Advanced Bone Age: GHRH Receptor Mutation Detected by Exome Sequencing Associated to Non-Classical Congenital Adrenal Hyperplasia (CAH) | ESPE2015 Fernanda de Azevedo Correa; Marcela M Franca; Qing Fang; Qianyi Ma; Tania A Bachega; Berenice B Mendonca; Alexander LJorge; Luci http://abstracts.eurospe.org/hrp/0084/hrp0084p2-535.htm Published: 2015-08-26
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