Patoloxía Molecular das Doenzas Raras
PatMol-DR
University of Chicago
Chicago, Estados UnidosPublicacións en colaboración con investigadores/as de University of Chicago (6)
2008
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Pendred syndrome in two Galician families: Insights into clinical phenotypes through cellular, genetic, and molecular studies
Journal of Clinical Endocrinology and Metabolism, Vol. 93, Núm. 1, pp. 267-277
2005
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A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor β gene perpetuates resistance to thyroid hormone
Journal of Clinical Endocrinology and Metabolism, Vol. 90, Núm. 3, pp. 1760-1767
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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism
Nature Genetics, Vol. 37, Núm. 11, pp. 1247-1252
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Sex differences in the neuroendocrine response to short-term fasting in rhesus macaques
Journal of Neuroendocrinology, Vol. 17, Núm. 7, pp. 435-444
2003
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Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene [2]
Clinical Endocrinology
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The effect of short-term treatment with recombinant human thyroid-stimulating hormones on leydig cell function in men
Thyroid, Vol. 13, Núm. 7, pp. 649-652