Publications:

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Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.

Frontiers In Endocrinology

Lee, Kyu Won KW; Shin, Yoochan Y; Lee, Sungahn S; Lee, Sihoon S

Publication Date: 2021

Variant appearance in text: SECISBP2: 2344C>T; Q782X

PubMed Link: 35126314

Variant Present in the following documents:

• Main text
• fendo-12-803024.pdf

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Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

International Journal Of Molecular Sciences

Schoenmakers, Erik E; Chatterjee, Krishna K

Publication Date: 2021-11-29

Variant appearance in text: SECISBP2: 2344C>T; Q782X

PubMed Link: 34884733

Variant Present in the following documents:

• Main text
• ijms-22-12927.pdf

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Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

International Journal Of Molecular Sciences

Schoenmakers, Erik E; Chatterjee, Krishna K

Publication Date: 2021-11-29

Variant appearance in text: SECISBP2: 2344C>T; Q782X

PubMed Link: 34884733

Variant Present in the following documents:

• Main text
• ijms-22-12927.pdf

View BVdb publication page

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Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

The Journal Of Clinical Endocrinology And Metabolism

Fu, Jiao J; Korwutthikulrangsri, Manassawee M; Gönç, E Nazli EN; Sillers, Laura L; Liao, Xiao-Hui XH; Alikaşifoğlu, Ayfer A; Kandemir, Nurgün N; Menucci, Maria Belen MB; Burman, Kenneth D KD; Weiss, Roy E RE; Dumitrescu, Alexandra M AM

Publication Date: 2020-03-01

Variant appearance in text: SBP2: 2344C>T

PubMed Link: 32084277

Variant Present in the following documents:

• Main text

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A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.

Thyroid : Official Journal Of The American Thyroid Association

Çatli, Gönül G; Fujisawa, Haruki H; Kirbiyik, Özgür Ö; Mimoto, Mizuho S MS; Gençpinar, Pinar P; Özdemir, Taha Reşid TR; Dündar, Bumin Nuri BN; Dumitrescu, Alexandra M AM

Publication Date: 2018-09

Variant appearance in text: SECISBP2: Q782*

PubMed Link: 29882503

Variant Present in the following documents:

• Main text

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The syndromes of reduced sensitivity to thyroid hormone.

Biochimica Et Biophysica Acta

Dumitrescu, Alexandra M AM; Refetoff, Samuel S

Publication Date: 2013-07

Variant appearance in text: SBP2: 2344C>T

PubMed Link: 22986150

Variant Present in the following documents:

• Main text

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