Genetic developments in Hypoparathyroidism

Positional cloning of the APECED gene

Kentaro Nagamine, Pärt Peterson, Hamish S. Scott et al. · Nature Genetics · 1997 · 1.4K citations

Life Sciences, Genetics, Molecular Biology +10

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

Johanna Aaltonen, Petra Björses, Jaakko Perheentupa et al. · Nature Genetics · 1997 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +14

Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients

Pekka Ahonen, S Myllärniemi, Ilkka Sipilä et al. · New England Journal of Medicine · 1990 · 1.1K citations · Full text

Life Sciences, Clinical Sciences, Dermatology +14

Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Martin R. Pollak, Edward M. Brown, Yah‐Huei Wu Chou et al. · Cell · 1993 · 1.1K citations

Life Sciences, Endocrinology, Genetics +16

GATA3 haplo-insufficiency causes human HDR syndrome

Hilde Van Esch, Peter Groenen, M. Andrew Nesbit et al. · Nature · 2000 · 654 citations

Life Sciences, Genetics, Molecular Genetics +4