Publications:

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Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Matsuyama, Misayo M; Sawada, Hirotake H; Inoue, Shinobu S; Hishinuma, Akira A; Sekiya, Ryo R; Sato, Yuichiro Y; Moritake, Hiroshi H

Publication Date: 2022

Variant appearance in text: TG: A2215D

PubMed Link: 35928386

Variant Present in the following documents:

• cpe-31-185.pdf

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A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant

Journal Of Clinical Research In Pediatric Endocrinology

Stern, Eve E; Schoenmakers, Nadia N; Nicholas, Adeline K. AK; Kassif, Eran E; Hamiel, Orit Pinhas OP; Yeshayahu, Yonatan Y

Publication Date: 2022-06-07

Variant appearance in text: TG: A2215D

PubMed Link: 33832185

Variant Present in the following documents:

• JCRPE-14-221.pdf

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High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.

Frontiers In Endocrinology

Stoupa, Athanasia A; Al Hage Chehade, Ghada G; Chaabane, Rim R; Kariyawasam, Dulanjalee D; Szinnai, Gabor G; Hanein, Sylvain S; Bole-Feysot, Christine C; Fourrage, Cécile C; Nitschke, Patrick P; Thalassinos, Caroline C; Pinto, Graziella G; Mnif, Mouna M; Baron, Sabine S; De Kerdanet, Marc M; Reynaud, Rachel R; Barat, Pascal P; Hachicha, Mongia M; Belguith, Neila N; Polak, Michel M; Carré, Aurore A

Publication Date: 2020

Variant appearance in text: TG: A2215D

PubMed Link: 33692749

Variant Present in the following documents:

• Main text
• fendo-11-545339.pdf

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Thyroglobulin Interactome Profiling Defines Altered Proteostasis Topology Associated With Thyroid Dyshormonogenesis.

Molecular & Cellular Proteomics : Mcp

Wright, Madison T MT; Kouba, Logan L; Plate, Lars L

Publication Date: 2020-12-08

Variant appearance in text: TG: A2215D

PubMed Link: 33581410

Variant Present in the following documents:

• main.pdf

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Thyroglobulin Interactome Profiling Defines Altered Proteostasis Topology Associated With Thyroid Dyshormonogenesis.

Molecular & Cellular Proteomics : Mcp

Wright, Madison T MT; Kouba, Logan L; Plate, Lars L

Publication Date: 2021

Variant appearance in text: TG: A2215D

PubMed Link: 33581410

Variant Present in the following documents:

• main.pdf

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Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement.

Internal Medicine (Tokyo, Japan)

Mizokami, Tetsuya T; Fukata, Shuji S; Kogai, Takahiko T; Hishinuma, Akira A; Hamada, Katsuhiko K; Maruta, Tetsushi T; Higashi, Kiichiro K; Tajiri, Junichi J

Publication Date: 2019-09-15

Variant appearance in text: TG: A2215D

PubMed Link: 31178475

Variant Present in the following documents:

• 1349-7235-58-2669.pdf

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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.

Bmc Medical Genetics

Watanabe, Y Y; Sharwood, E E; Goodwin, B B; Creech, M K MK; Hassan, H Y HY; Netea, M G MG; Jaeger, M M; Dumitrescu, A A; Refetoff, S S; Huynh, T T; Weiss, R E RE

Publication Date: 2018-05-02

Variant appearance in text: TG: A2215D

PubMed Link: 29720101

Variant Present in the following documents:

• Main text
• 12881_2018_Article_588.pdf

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New insight into ectopic thyroid glands between the neck and maxillofacial region from a 42-case study.

Bmc Endocrine Disorders

Gu, Ting T; Jiang, Boren B; Wang, Ningjian N; Xia, Fangzhen F; Wang, Lizhen L; Gu, Aichun A; Xu, Feng F; Han, Yongshun Y; Li, Qin Q; Lu, Yingli Y

Publication Date: 2015-11-18

Variant appearance in text: TG: A2215D

PubMed Link: 26581587

Variant Present in the following documents:

• 12902_2015_Article_66.pdf

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