Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

Journal of Medical Genetics ◽

10.1136/jmedgenet-2014-102936 ◽

2015 ◽

Vol 52 (5) ◽

pp. 312-316 ◽

Author(s):

Anna Tylki-Szymańska ◽

Rocio Acuna-Hidalgo ◽

Małgorzata Krajewska-Walasek ◽

Agnieszka Lecka-Ambroziak ◽

Marloes Steehouwer ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Thyroid Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Resistance ◽

Thyroid Hormone Receptor Α ◽

Thyroid Hormone Resistance Syndrome

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Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report

Molecular Medicine Reports ◽

10.3892/mmr.2019.10703 ◽

2019 ◽

Author(s):

Jue Wang ◽

Haihong Lv

Keyword(s):

Case Report ◽

Thyroid Hormone ◽

Hormone Receptor ◽

Thyroid Hormone Receptor ◽

Novel Mutation ◽

Hormone Resistance ◽

Thyroid Hormone Resistance ◽

Thyroid Hormone Receptor Β ◽

Thyroid Hormone Resistance Syndrome

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Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome

Clinical Endocrinology ◽

10.1111/j.1365-2265.1992.tb01444.x ◽

1992 ◽

Vol 36 (3) ◽

pp. 281-289 ◽

Author(s):

M. Adams ◽

T. Nagaya ◽

Y. Tone ◽

J. L. Jameson ◽

V. K. K. Chatterjee

Keyword(s):

Thyroid Hormone ◽

Functional Properties ◽

Hormone Receptor ◽

Thyroid Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Resistance ◽

Thyroid Hormone Resistance Syndrome

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A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report

Journal of Medical Case Reports ◽

10.1186/1752-1947-8-12 ◽

2014 ◽

Vol 8 (1) ◽

Author(s):

Kawther El Shafie ◽

Allal Ouhtit ◽

Yousuf Al Farsi ◽

Abeer Al Sayegh ◽

Mohammed Al Shafaee

Keyword(s):

Case Report ◽

Thyroid Hormone ◽

Gene Mutation ◽

Hormone Receptor ◽

Thyroid Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Resistance ◽

Thyroid Hormone Resistance Syndrome ◽

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Thyroid hormone resistance syndrome with P453T mutation in thyroid hormone receptor β gene

Medicine ◽

10.1097/md.0000000000022824 ◽

2020 ◽

Vol 99 (44) ◽

pp. e22824

Author(s):

Ayiguli Yusufu ◽

Wen-Jing Chen ◽

Ming-Chen Zhang

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Thyroid Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Resistance ◽

Thyroid Hormone Receptor Β ◽

Thyroid Hormone Resistance Syndrome

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Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene

Medicine ◽

10.1097/md.0000000000004415 ◽

2016 ◽

Vol 95 (33) ◽

pp. e4415 ◽

Author(s):

Qing-Hua Guo ◽

Bao-An Wang ◽

Chen-Zhi Wang ◽

Min Wang ◽

Ju-Ming Lu ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Thyroid Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Resistance ◽

Thyroid Hormone Receptor Β ◽

Thyroid Hormone Resistance Syndrome

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Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance

Trends in Endocrinology and Metabolism ◽

10.1016/j.tem.2005.03.008 ◽

2005 ◽

Vol 16 (4) ◽

pp. 176-182 ◽

Author(s):

Sheue-yann Cheng

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Thyroid Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Resistance

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Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.74.4.1548332 ◽

1992 ◽

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Gel Electrophoresis ◽

Denaturing Gradient Gel Electrophoresis ◽

Thyroid Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Resistance ◽

Gradient Gel Electrophoresis ◽

Beta Gene ◽

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A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance

HORMONES ◽

10.1007/s42000-019-00094-9 ◽

2019 ◽

Vol 18 (2) ◽

pp. 223-227 ◽

Author(s):

Ozlem Korkmaz ◽

Samim Ozen ◽

Taha Resid Ozdemir ◽

Damla Goksen ◽

Sukran Darcan

Keyword(s):

Thyroid Hormone ◽

Gene Mutation ◽

Hormone Receptor ◽

Thyroid Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Resistance ◽

Receptor Alpha ◽

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Thyroid hormone resistance caused by a novel deleterious variant of the thyroid hormone receptor beta gene

European Journal of Obstetrics & Gynecology and Reproductive Biology ◽

10.1016/j.ejogrb.2012.11.001 ◽

2013 ◽

Vol 167 (1) ◽

pp. 118-119 ◽

Author(s):

P. Beato-Víbora ◽

J. Arroyo-Díez ◽

R. Rodríguez-López

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Thyroid Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Resistance ◽

Deleterious Variant ◽

Beta Gene ◽

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Diverse Abnormalities of the c-erbAβ Thyroid Hormone Receptor Gene in Generalized Thyroid Hormone Resistance

Advances in Experimental Medicine and Biology - Advances in Perinatal Thyroidology ◽

10.1007/978-1-4684-5973-9_15 ◽

1991 ◽

pp. 251-258 ◽

Author(s):

Stephen J. Usala ◽

Barry B. Bercu ◽

Samuel Refetoff

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Thyroid Hormone Receptor ◽

Receptor Gene ◽

Hormone Resistance ◽

Thyroid Hormone Resistance ◽

Hormone Receptor Gene

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