[Inherited abnormality of thyroxine-binding globulin: its gene abnormality and pathogenesis].
Inherited abnormality of thyroxine-binding globulin with no demonstrable thyroxine-binding activity and high serum levels of denatured thyroxine-binding globulin.
A new inherited abnormality of thyroxine-binding globulin (TBG-San Diego) with decreased affinity for thyroxine and triiodothyronine.
Inherited defects of thyroxine-binding proteins.
Pappa T, Ferrara AM, Refetoff S.
Best Pract Res Clin Endocrinol Metab. 2015 Oct;29(5):735-47. doi: 10.1016/j.beem.2015.09.002. Epub 2015 Sep 30.
Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations.
Mimoto MS, Refetoff S.
J Endocrinol Invest. 2020 Jan;43(1):31-41. doi: 10.1007/s40618-019-01084-9. Epub 2019 Jul 27.
Inherited thyroxine-binding globulin abnormalities in man.
Refetoff S.
Endocr Rev. 1989 Aug;10(3):275-93. doi: 10.1210/edrv-10-3-275.
Gene amplification as a cause of inherited thyroxine-binding globulin excess in two Japanese families.
Mori Y, Miura Y, Takeuchi H, Igarashi Y, Sugiura J, Saito H, Oiso Y.
J Clin Endocrinol Metab. 1995 Dec;80(12):3758-62. doi: 10.1210/jcem.80.12.8530630.
[Inherited abnormality of thyroxine-binding globulin: its gene abnormality and pathogenesis].
Murata Y, Mori Y, Miura Y.
Nihon Rinsho. 1994 Apr;52(4):880-5.
Defects of Thyroid Hormone Transport in Serum.
Refetoff S.
2023 Mar 4. In: Feingold KR, Ahmed SF, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, Muzumdar R, Purnell J, Rey R, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
A new inherited abnormality of thyroxine-binding globulin (TBG-San Diego) with decreased affinity for thyroxine and triiodothyronine.
Sarne DH, Refetoff S, Nelson JC, Linarelli LG.
J Clin Endocrinol Metab. 1989 Jan;68(1):114-9. doi: 10.1210/jcem-68-1-114.
Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus.
Refetoff S, Robin NI, Alper CA.
J Clin Invest. 1972 Apr;51(4):848-67. doi: 10.1172/JCI106880.
Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female.
Bigazzi M, Ronga R, Olivotti AL, Scarselli G, Refetoff S.
J Endocrinol Invest. 1980 Oct-Dec;3(4):349-52. doi: 10.1007/BF03349369.
Gene amplification as a common cause of inherited thyroxine-binding globulin excess: analysis of one familial and two sporadic cases.
Mori Y, Jing P, Kayama M, Fujieda K, Hasegawa T, Nogimori T, Hirooka Y, Mitsuma T.
Endocr J. 1999 Aug;46(4):613-9. doi: 10.1507/endocrj.46.613.
