A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

Sonya G. Fonseca, Shinsuke Ishigaki, Christine M. Oslowski et al. · Journal of Clinical Investigation · 2010 · 408 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +15

A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

Sami S. Amr, Cindy Heisey, Min Zhang et al. · The American Journal of Human Genetics · 2007 · 284 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Active <i>Alu</i> retrotransposons in the human genome

E. Andrew Bennett, Heiko Keller, Ryan E. Mills et al. · Genome Research · 2008 · 282 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Neurologic features and genotype‐phenotype correlation in Wolfram syndrome

Annabelle Chaussenot, Sylvie Bannwarth, Cécile Rouzier et al. · Annals of Neurology · 2010 · 152 citations · Full text

Life Sciences, Genetics, Neurology +17

Pseudohypoparathyroidism and<i>GNAS</i>Epigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

Giovanna Mantovani, Luisa De Sanctis, Anna Maria Barbieri et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 148 citations · Full text

Medicine, Endocrinology, Genetics +16