Bettina Brix

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 · 54 citations · Full text

Medicine, Endocrinology, Genetics +14

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

Intza Garin, Giovanna Mantovani, Urko Aguirre et al. · European Journal of Human Genetics · 2014 · 35 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS

Serap Turan, Susanne Thiele, Olta Tafaj et al. · Bone · 2014 · 33 citations · Full text

Medicine, Endocrinology, Genetics +16

Different Pattern of Epigenetic Changes of the<i>GNAS</i>Gene Locus in Patients With Pseudohypoparathyroidism Type Ic Confirm the Heterogeneity of Underlying Pathomechanisms in This Subgroup of Pseudohypoparathyroidism and the Demand for a New Classification of<i>GNAS</i>-Related Disorders

Bettina Brix, Ralf Werner, Pia Staedt et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 30 citations · Full text

Life Sciences, Endocrinology, Genetics +9

Defense Mechanisms of Hepatocytes Against Burkholderia pseudomallei

Antje Bast, Imke H. E. Schmidt, Paul Brauner et al. · Frontiers in Microbiology · 2012 · 15 citations · Full text

Veterinary Medicine, Infectious Diseases, Microbiology +17