ESPE Abstracts

ESPE Abstracts

Published by BioScientifica
Volume 82 | ESPE2014 | Next issue

53rd Annual ESPE (ESPE 2014)

Dublin, Ireland
18 Sept 2014 - 20 Sept 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Presentations

Growth

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Fat Metabolism & Obesity (2)
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Growth (1)

hrp0082p1-d1-135 | Growth

The Association Between Adipocytes and Growth is Mediated by Growth and Differentiation Factor 5

hrp0082p1-d1-136 | Growth

A Homozygous Point Mutation in the GH1 Promoter (−161T>C) Leads to Reduced GH Expression in Siblings with Isolated GH Deficiency

hrp0082p1-d1-137 | Growth

Growth Differentiation Factor 15 and Fibroblast Growth Factor 21: Novel Biomarkers for Mitochondrial Diseases

hrp0082p1-d1-138 | Growth

A Novel Homozygous Mutation of the IGF1 Receptor Gene (igf1r) in Two Siblings with Severe Short Stature, Intellectual Disability, Congenital Malformations, and Deafness

hrp0082p1-d1-139 | Growth

Functional Characterization of Three Novel Mutations in the IGF1R Gene

hrp0082p1-d1-140 | Growth

Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation

hrp0082p1-d1-141 | Growth

Whole Exome Sequencing is an Efficient Approach to Screen for Changes in Growth-Relevant Genes in Primary IGF1 Deficiency

hrp0082p1-d1-142 | Growth

Parental Gonadal Mosaicism for a BRAF Mutation in Cardiofaciocutaneous Syndrome

hrp0082p1-d1-143 | Growth

Mitochondrial DNA in Placenta: Associations with Fetal Growth and Superoxide Dismutase Activity

hrp0082p1-d1-144 | Growth

Genetics of Growth Failure in Small for Gestational Age Children

hrp0082p1-d1-145 | Growth

Genotype–Phenotype Relationship in Patients with SHOX Region Rearrangements Detected by MLPA in the French Population

hrp0082p1-d1-146 | Growth

Analysis of GH Receptor Gene Expression in Idiopathic Tall Stature Children

hrp0082p1-d1-147 | Growth

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

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ESPE Abstracts

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