Literature DB >> 25707783

Thyroid gland: TSHR mutations and subclinical congenital hypothyroidism.

Nadia Schoenmakers1, V Krishna Chatterjee1.   

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Year:  2015        PMID： 25707783     DOI： 10.1038/nrendo.2015.27

Source DB:  PubMed          Journal:  Nat Rev Endocrinol        ISSN： 1759-5029            Impact factor:   43.330


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  9 in total

Review 1.  Genetics and phenomics of hypothyroidism due to TSH resistance.

Authors:  Luca Persani; Davide Calebiro; Daniela Cordella; Giovanna Weber; Giulia Gelmini; Domenico Libri; Tiziana de Filippis; Marco Bonomi
Journal:  Mol Cell Endocrinol       Date:  2010-01-18       Impact factor: 4.102

2.  Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.

Authors:  R J Clifton-Bligh; J W Gregory; M Ludgate; R John; L Persani; C Asteria; P Beck-Peccoz; V K Chatterjee
Journal:  J Clin Endocrinol Metab       Date:  1997-04       Impact factor: 5.958

3.  Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.

Authors:  Yardena Tenenbaum-Rakover; Shlomo Almashanu; Ora Hess; Osnat Admoni; Ahmad Hag-Dahood Mahameed; Naama Schwartz; Stavit Allon-Shalev; Dani Bercovich; Samuell Refetoff
Journal:  Thyroid       Date:  2015-01-28       Impact factor: 6.568

4.  Disturbance of the fetal thyroid hormone state has long-term consequences for treatment of thyroidal and central congenital hypothyroidism.

Authors:  M J E Kempers; A S P van Trotsenburg; D A van Tijn; E Bakker; B M Wiedijk; E Endert; J J M de Vijlder; T Vulsma
Journal:  J Clin Endocrinol Metab       Date:  2005-04-12       Impact factor: 5.958

5.  Thyroid resistance to TSH complicated by autoimmune thyroiditis.

Authors:  M Tonacchera; P Agretti; G De Marco; A Perri; A Pinchera; P Vitti; L Chiovato
Journal:  J Clin Endocrinol Metab       Date:  2001-09       Impact factor: 5.958

6.  Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.

Authors:  Annalisa Nicoletti; Milva Bal; Giuseppina De Marco; Lilia Baldazzi; Patrizia Agretti; Soara Menabò; Elisa Ballarini; Alessandro Cicognani; Massimo Tonacchera; Alessandra Cassio
Journal:  J Clin Endocrinol Metab       Date:  2009-10-09       Impact factor: 5.958

7.  Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene.

Authors:  Haruo Mizuno; Keisuke Kanda; Yukari Sugiyama; Hiroki Imamine; Tetsuya Ito; Ineko Kato; Hajime Togari; Tomohiro Kamoda; Kazumichi Onigata
Journal:  Horm Res       Date:  2009-06-06

8.  Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.

Authors:  Yardena Tenenbaum-Rakover; Helmut Grasberger; Sunee Mamanasiri; Usanee Ringkananont; Lucia Montanelli; Marla S Barkoff; Ahmad Mahameed-Hag Dahood; Samuel Refetoff
Journal:  J Clin Endocrinol Metab       Date:  2009-02-24       Impact factor: 5.958

Review 9.  Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.

Authors:  Alessandra Cassio; Annalisa Nicoletti; Angela Rizzello; Emanuela Zazzetta; Milva Bal; Lilia Baldazzi
Journal:  J Clin Res Pediatr Endocrinol       Date:  2012-11-15
  9 in total
  4 in total

Review 1.  Genetics of congenital hypothyroidism: Modern concepts.

Authors:  Athanasia Stoupa; Dulanjalee Kariyawasam; Michel Polak; Aurore Carré
Journal:  Pediatr Investig       Date:  2022-05-14

Review 2.  GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases.

Authors:  Anton M Jetten
Journal:  Cell Mol Life Sci       Date:  2018-05-19       Impact factor: 9.261

Review 3.  Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.

Authors:  Paul van Trotsenburg; Athanasia Stoupa; Juliane Léger; Tilman Rohrer; Catherine Peters; Laura Fugazzola; Alessandra Cassio; Claudine Heinrichs; Veronique Beauloye; Joachim Pohlenz; Patrice Rodien; Regis Coutant; Gabor Szinnai; Philip Murray; Beate Bartés; Dominique Luton; Mariacarolina Salerno; Luisa de Sanctis; Mariacristina Vigone; Heiko Krude; Luca Persani; Michel Polak
Journal:  Thyroid       Date:  2021-03       Impact factor: 6.568

4.  Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients.

Authors:  Peng Xue; Yuqi Yang; Qi Yun; Yue Cui; Bin Yu; Wei Long
Journal:  Int J Gen Med       Date:  2021-08-03
  4 in total

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