ESPE Abstracts

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

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

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

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

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

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

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