Award

DK 00055

Funder: National Institute of Diabetes and Digestive and Kidney Diseases

Funded outputs count: 6

Funder award ID: DK 00055

OpenAlex ID: G1942971473

Inmigración, identidad y la historia enseñada

2009 · Alicia Graciela Funes · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)

Four New Cases of Congenital Secondary Hypothyroidism due to a Splice Site Mutation in the Thyrotropin-β Gene: Phenotypic Variability and Founder Effect

2004 · Guntram Borck, A. Kemal Topaloglu, et al. · The Journal of Clinical Endocrinology & Metabolism · 30

The Hypothyroidism in an Inbred Kindred with Congenital Thyroid Hormone and Glucocorticoid Deficiency is Due to a Mutation Producing a Truncated Thyrotropin Receptor

1999 · DOV TIOSANO, SILVANA PANNAIN, et al. · Thyroid · 80

Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor- beta gene

1992 · K Takeda, A Sakurai, et al. · The Journal of Clinical Endocrinology & Metabolism · 206

Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.

1991 · K Takeda, S Balzano, et al. · Journal of Clinical Investigation · 87

Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.

1989 · A Sakurai, K Takeda, et al. · Proceedings of the National Academy of Sciences · 268