PMC Articles for MedGen (Select 374142) - PMC - NCBI

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Select item 80770921.

Compound hemizygous variants in SERPINA7 gene cause thyroxine‐binding globulin deficiency

Yanlan Fang, Hong Chen, Qingqing Chen, Chunlin Wang, Li Liang

Mol Genet Genomic Med. 2021 Feb; 9(2): e1571. Published online 2021 Feb 7. doi: 10.1002/mgg3.1571

PMCID:: PMC8077092

Abstract Article PDF–1.9M

Select item 68876172.

Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report

Ping-Ping Dang, Wei-Wei Xiao, Zhong-Yan Shan, Yue Xi, Ran-Ran Wang, Xiao-Hui Yu, Wei-Ping Teng, Xiao-Chun Teng

World J Clin Cases. 2019 Nov 26; 7(22): 3887–3894. Published online 2019 Nov 26. doi: 10.12998/wjcc.v7.i22.3887

PMCID:: PMC6887617

Abstract Article PDF–5.0M

Select item 55272293.

A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families

Theodora Pappa, Lars C. Moeller, Deborah V. Edidin, Silvana Pannain, Samuel Refetoff

Eur Thyroid J. 2017 Jul; 6(3): 138–142. Published online 2017 Feb 2. doi: 10.1159/000455097

PMCID:: PMC5527229

Abstract Article PDF–585K

Select item 49098234.

First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7

Fahimeh Soheilipour, Hassan Fazilaty, Fatemeh Jesmi, William A. Gahl, Babak Behnam

Mol Genet Metab Rep. 2016 Sep; 8: 13–16. Published online 2016 Jun 11. doi: 10.1016/j.ymgmr.2016.06.001

PMCID:: PMC4909823

Abstract Article PDF–641K

Select item 17009765.

Familial Thyroxine-binding Globulin Deficiency

P. Torkington, R. J. Harrison, N. F. Maclagan, David Burston

Br Med J. 1970 Jul 4; 3(5713): 27–29. doi: 10.1136/bmj.3.5713.27

PMCID:: PMC1700976

Summary Page Browse PDF–563K

Select item 10131416.

Familial thyroxine-binding globulin deficiency: search for linkage with Xg blood groups

D. B. Grant, H. G. Minchin Clarke, D. Putman

J Med Genet. 1974 Sep; 11(3): 271–274. doi: 10.1136/jmg.11.3.271

PMCID:: PMC1013141

Summary Page Browse PDF–1.3M

Select item 4366747.

Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess.

S Refetoff, V S Fang, J S Marshall, N I Robin

J Clin Invest. 1976 Feb; 57(2): 485–495. doi: 10.1172/JCI108301

PMCID:: PMC436674

Summary Page Browse PDF–1.6M

Select item 98165068.

Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea

Jung Heo, Sang-Mi Kim, Hyun Jin Ryu, Hyunju Park, Tae Hyuk Kim, Jae Hoon Chung, Hyung-Doo Park, Sun Wook Kim

Endocrinol Metab (Seoul) 2022 Dec; 37(6): 870–878. Published online 2022 Dec 7. doi: 10.3803/EnM.2022.1591

PMCID:: PMC9816506

Abstract Article PDF–535K

Select item 15446079.

Thyrotrophin estimation in diagnosis and treatment of childhood thyroid disorders.

D Jackson, M Vanderschueren-Lodeweyckx, D B Grant

Arch Dis Child. 1975 Jul; 50(7): 522–525. doi: 10.1136/adc.50.7.522

PMCID:: PMC1544607

Summary Page Browse PDF–623K

Select item 428301110.

A Novel Mechanism of Inherited TBG Deficiency: Mutation in a Liver-Specific Enhancer

Alfonso Massimiliano Ferrara, Theodora Pappa, Jiao Fu, Christopher D. Brown, April Peterson, Lars C. Moeller, Kathleen Wyne, Kevin P. White, Anna Pluzhnikov, Vassily Trubetskoy, Marcelo Nobrega, Roy E. Weiss, Alexandra M. Dumitrescu, Samuel Refetoff

J Clin Endocrinol Metab. 2015 Jan; 100(1): E173–E181. Published online 2014 Oct 31. doi: 10.1210/jc.2014-3490

PMCID:: PMC4283011

Abstract Article

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