Permanent diabetes mellitus in the first year of life

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Craig L. Bennett, Jacinda R. Christie, Fred Ramsdell et al. · Nature Genetics · 2001 · 3.4K citations

Life Sciences, Genetics, Immunology +13

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

Robert S. Wildin, Fred Ramsdell, Jane Peake et al. · Nature Genetics · 2001 · 1.9K citations

Medicine, Endocrinology, Pediatrics +17

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

Doris A. Stoffers, Noah T. Zinkin, V Stanojević et al. · Nature Genetics · 1997 · 1.1K citations

Medicine, Genetics, Molecular Genetics +12

Autoantibody appearance and risk for development of childhood diabetes in offspring of parents with type 1 diabetes: the 2-year analysis of the German BABYDIAB Study.

Anette‐Gabriele Ziegler, Michael Hummel, M Schenker et al. · Diabetes · 1999 · 639 citations

Life Sciences, Endocrinology, Pediatrics +17

Mutations in the glucokinase gene of the fetus result in reduced birth weight

Andrew T. Hattersley, Frances Beards, Elizabeth Ballantyne et al. · Nature Genetics · 1998 · 606 citations

Life Sciences, Genetics, Molecular Genetics +11