A Novel Mutation (M310L) in the Thyroid Hormone Receptor β Causing Resistance to Thyroid Hormone in a Brazilian Kindred and a Neonate

2000 ◽  
Vol 71 (3) ◽  
pp. 520-526 ◽  
Author(s):  
Tania Weber Furlanetto ◽  
Peter Kopp ◽  
Simone Peccin ◽  
Wen-Xia Gu ◽  
J.Larry Jameson
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Novel Mutation ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

A Novel Point Mutation of Thyroid Hormone Receptor β Gene in a Family with Resistance to Thyroid Hormone

Thyroid ◽  
1997 ◽  
Vol 7 (5) ◽  
pp. 771-773 ◽  
Author(s):  
TOMOHISA NAGASHIMA ◽  
HIDEKI YAGI ◽  
KANJI NAGASHIMA ◽  
AKIHIRO SAKURAI ◽  
KAZUMICHI ONIGATA ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Point Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

A Novel Resistance to Thyroid Hormone Associated with a New Mutation (T329N) in the Thyroid Hormone Receptor β Gene

Thyroid ◽  
1999 ◽  
Vol 9 (2) ◽  
pp. 165-171 ◽  
Author(s):  
GAIANE SARKISSIAN ◽  
ALEXANDRA DACE ◽  
ANNE MESMACQUE ◽  
HELENE BONY-TRIFUNOVIC ◽  
CHRISTIANE MALEZET-DESMOULINS ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
New Mutation ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

Phenotype Differences of Resistance to Thyroid Hormone in Two Unrelated Families with an Identical Mutation in the Thyroid Hormone Receptor β Gene (R320C)

Thyroid ◽  
1997 ◽  
Vol 7 (1) ◽  
pp. 35-38 ◽  
Author(s):  
ROY E. WEISS ◽  
HAKAN TUNCA ◽  
WHITFIELD L. KNAPPLE ◽  
FRED H. FAAS ◽  
SAMUEL REFETOFF
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

scholarly journals ADe NovoMutation in an Already Mutant Nucleotide of the Thyroid Hormone Receptor β Gene Perpetuates Resistance to Thyroid Hormone

2005 ◽  
Vol 90 (3) ◽  
pp. 1760-1767 ◽  
Author(s):  
Joaquin Lado-Abeal ◽  
Alexandra M. Dumitrescu ◽  
Xiao-Hui Liao ◽  
Ronald N. Cohen ◽  
Joachim Pohlenz ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

A novel missense mutation in the thyroid hormone receptor β gene in a kindred with resistance to thyroid hormone

1996 ◽  
Vol 97 (3) ◽  
pp. 407-408 ◽  
Author(s):  
Hiromichi Kijima ◽  
Mitsumasa Kubo ◽  
Tatsuya Ishizuka ◽  
Mitsuaki Kakinuma ◽  
Takao Koike
Keyword(s):  
Thyroid Hormone ◽  
Missense Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β
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