ESPE Abstracts

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

Two Siblings with Short Stature | ESPE2018
Sri Nagesh V; Andrew Dauber; Ravishankar Kanithi; Deep Dutta; Ram Kumar G
http://abstracts.eurospe.org/hrp/0089/hrp0089p3-p214.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

A Cross-Sectional Study of IGF-I Bioavailability Through Childhood and Associations with PAPP-A2, STC2 and Anthropometric Data | ESPE2018
Masanobu Fujimoto; Jane Khoury; Melissa Andrew; Vivian Hwa; Andrew Dauber
http://abstracts.eurospe.org/hrp/0089/hrp0089fc4.4.htm
Published: 2018-08-28

Whole Exome Sequencing Identifies a GH1 Gene Mutation Causing Familial Isolated Growth Hormone Deficiency with Normal Peak Growth Hormone Concentrations | ESPE2016
Catalina Cabrera Salcedo; Vivian Hwa; Leah Tyzinski; Melissa Andrew; Philippe Backeljauw; Andrew Dauber
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc14.3.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

Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum | ESPE2016
Alexandra Gkourogianni; Melissa Andrew; Melissa Crocker; Nancy Dunbar; Alexander Jorge; Stephen Lafranchi; Seema Lalani; Jan Leb
http://abstracts.eurospe.org/hrp/0086/hrp0086fc14.1.htm
Published: 2016-08-19

PAPP-A2 Gene Mutation Effects on Glucose Metabolism and Bone Mineral Density and Response to Therapy with Recombinant Human IGF-I | ESPE2016
Catalina Cabrera Salcedo; Vivian Hwa; Leah Tyzinski; Melissa Andrew; Halley Wasserman; Philippe Backeljauw; Andrew Dauber
http://abstracts.eurospe.org/hrp/0086/hrp0086fc8.3.htm
Published: 2016-08-19

Advanced Bone Age and Accelerated Dental Development Associated with Elevated Retinoic Acid Levels and Haploinsufficiency of CYP26A1 and CYP26C1 | ESPE2015
Ola Nilsson; Nina Isoherranen; Ines Guttmann-Bauman; YouHee Jee; Michael Guo; Julian Lui; Andrew Dauber
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-462.htm
Published: 2015-08-26

A New Syndrome Associated with Mutations in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2) Causing Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density in two Unrelated Families | ESPE2015
Andrew Dauber; Maria T Munoz-Calvo; Vicente Barrios; Vardhini Desikan; Jesus Pozo; Radhika Muzumdar; Gabriel A Martos-Moreno; Fe
http://abstracts.eurospe.org/hrp/0084/hrp0084ha2.htm
Published: 2015-08-26