Literature DB >> 27743306

Resistance to Thyroid Hormone - A Novel Mutation in THRβ-Gene from India.

Subramanian Kannan1, Akansha Jain2, Ravikesh Tripathy3, Shriraam Mahadevan4.   

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Year:  2016        PMID: 27743306     DOI: 10.1007/s12098-016-2239-3

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


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  3 in total

Review 1.  Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.

Authors:  Samuel Refetoff; Alexandra M Dumitrescu
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2007-06       Impact factor: 4.690

2.  Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.

Authors:  M Adams; C Matthews; T N Collingwood; Y Tone; P Beck-Peccoz; K K Chatterjee
Journal:  J Clin Invest       Date:  1994-08       Impact factor: 14.808

3.  Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.

Authors:  R E Weiss; M Weinberg; S Refetoff
Journal:  J Clin Invest       Date:  1993-06       Impact factor: 14.808

  3 in total

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