Concepedia

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X

Marta García, Ana Coral Barreda Bonis, Paula C. Jimenez, Ignacio Rabanal, Elena Vallespín, Ángela del Pozo, Juan Martínez San Millán, I. González Casado, J.C. Moreno

Journal of the Endocrine Society · 2018 · 14 citations · 27 references

DOIFull text

Open access

Concepts

Abstract

may lead to a distinct syndrome with a phenotypic spectrum wider than previously reported.

References

27

Asymptomatic Chiari Type I malformations identified on magnetic resonance imaging

Jeffery Meadows, Michael A. Kraut, Michael Guarnieri et al. · Journal of neurosurgery · 2000 · 586 citations

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A core SMRT corepressor complex containing HDAC3 and TBL1, a WD40-repeat protein linked to deafness

Matthew G. Guenther, William S. Lane, Wolfgang Fischle et al. · Genes & Development · 2000 · 483 citations · Full text

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Purification and functional characterization of the human N‐CoR complex: the roles of HDAC3, TBL1 and TBLR1

Ho‐Geun Yoon · The EMBO Journal · 2003 · 432 citations · Full text

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Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

Xue Zhong Liu · Human Molecular Genetics · 2003 · 205 citations · Full text

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TSH and Thyrotropic Agonists: Key Actors in Thyroid Homeostasis

Johannes W. Dietrich, Gabi Landgrafe, Elisavet H. Fotiadou · Journal of Thyroid Research · 2012 · 150 citations · Full text

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