Susanne Thiele

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

Susanne Thiele, Luisa De Sanctis, Ralf Werner et al. · Human Mutation · 2011 · 76 citations · Full text

Sclerostin, Genetics, Molecular Biology +25

GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice

Gerhard Binder, Thomas Reinehr, Lourdes Ibáñez et al. · Hormone Research in Paediatrics · 2019 · 65 citations

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity

Patrick Hanna, Virginie Grybek, Guiomar Pérez de Nanclares et al. · Journal of Bone and Mineral Research · 2018 · 56 citations · Full text

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the <i>GNAS</i> locus

Celia Zazo, Susanne Thiele, César Martı́n et al. · Journal of Bone and Mineral Research · 2011 · 53 citations

A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the <i><scp>GNAS</scp></i> gene

Susanne Thiele, Ralf Werner, Joachim Grötzinger et al. · Molecular Genetics & Genomic Medicine · 2014 · 52 citations · Full text

Genetics, Genetic Epidemiology, Pathology +24