- George Ebers, University of Oxford
- Giovanni Neri, Università Cattolica del S. Cuore
- Dan Rujescu, Universitätsklinikum Halle
- David-Alexandre Tregouet, INSERM
- Tim Sands, BioMed Central
A previously reported finding of a variant in a polypyrimidine tract binding protein 1 (PTBP1) associated with invtravenous glucose tolerance is not replicated in a new study nor with increased diabetes risk but does find association with beta-cell function.
A PCR method can successfully amplify myotonic dystrophy type 1 alleles directly from whole blood in 15 minutes, providing a proof-of-principle for how current PCR technology can be adapted to rapid, direct genetic tests.
BMC Medical Genetics 2015, 16:25
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Giovanni Neri is professor and chair at the Institute of Medical Genetics of the Catholic University School of Medicine in Rome and chief of the Medical Genetics Services of the "A. Gemelli" University Hospital. He is currently serving as President of the Societá Italiana di Genetica Umana and as member of the Scientific Program Committee of the European Society of Human Genetics. He is advisory editor of the American Journal of Medical Genetics. His main research interests are in the field of mental retardation, specifically the fragile X syndrome, and of malformation syndromes, including the RASopathies and overgrowth syndromes.
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