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  1. No Access

    Article

    Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency

    The variant thyroxine-binding globulin in a family from Montreal (TBG-M) has a reduced affinity for thyroxine, shows a slight cathodal shift on isoelectric focusing, and has an increased susceptibility to inac...

    Onno E. Janssen, Kyoko Takeda, Samuel Refetoff in Human Genetics (1991)

  2. No Access

    Article

    Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1

    Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally due to developmental defects leading to absent, ectopic or hypoplastic thyroid gland. Although commonly rega...

    Helmut Grasberger, Martine Vaxillaire, Silvana Pannain, John C. Beck… in Human Genetics (2005)

  3. Article

    Open Access

    A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature

    Germline nonautoimmune hyperthyroidism due to an activating mutation in the thyroid stimulating hormone receptor gene is an uncommon disease. To date 32 different mutations have been described. The severity of th...

    Cæcilie C Larsen, Lefkothea P Karaviti… in International Journal of Pediatric Endocri… (2014)

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  4. Article

    A new TRβ mutation in resistance to thyroid hormone syndrome

    Thyroid hormones (TH) exert their actions by binding nuclear receptors alpha (TRα1) and beta (TRβ1 and TRβ2). Resistance to thyroid hormone (RTH) is a clinical syndrome with various clinical manifestations, it...

    Dr. Corina Neamţu, Claudiu Ţupea, Diana Păun, Anca Hoisescu, Adina Ghemigian… in Hormones (2016)

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