Pendred syndrome among patients with congenital hypothyroidism detected by neonatalscreening: identification of two novel PDS/SLC26A4 mutations

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Lorraine A. Everett, Benjamin Gläser, John C. Beck et al. · Nature Genetics · 1997 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +4

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

The Pendred syndrome gene encodes a chloride-iodide transport protein

Daryl A. Scott, Rong Wang, Trisha Kreman et al. · Nature Genetics · 1999 · 567 citations

Life Sciences, Genetics, Molecular Genetics +10

The Large Vestibular Aqueduct Syndrome

Galdino E. Valvassori, Jack D. Clemis · The Laryngoscope · 1978 · 564 citations

Medicine, Audiology, Otolaryngology +17

Pendrin, the Protein Encoded by the Pendred Syndrome Gene (<i>PDS</i>), Is an Apical Porter of Iodide in the Thyroid and Is Regulated by Thyroglobulin in FRTL-5 Cells

Inès Royaux, Koichi Suzuki, Atsumi Mori et al. · Endocrinology · 2000 · 390 citations · Full text

Medicine, Endocrinology, Genetics +11