Revista de Medicina de Laboratorio 00060
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http://dx.doi.org/10.20960/revmedlab.00060
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Estudio genético familiar de resistencia a hormonas tiroideas
Rocío Cabra-Rodríguez, María José Ruiz Márquez, Gema María Varo Sánchez
Prepublicado: 2021-02-11
Publicado: 2021-08-06
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13244
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3605
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0
Compártelo:
Palabras Clave: Hormonas; Tiroideas; Resistencias
Choi JH, Cho JH, Kim JH, Yoo EG, Kim GH, Yoo HW. Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes. Horm Res Paediatr. 2018; 90(5):283-290.
DOI: 10.1159/000493468
DOI: 10.1159/000493468
Arsov T, Xie C, Shen N, Andrews D, Vinuesa CG, Vaskova O. "Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones." Thyroid research.2019; 12.1:7. https://doi.org/10.1186/s13044-019-0068-y
DOI: 10.1186/s13044-019-0068-y
DOI: 10.1186/s13044-019-0068-y
Wang, J, Lv H. "Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report." Molecular medicine reports.2019; 20.5:4683-4687.https://doi.org/10.3892/mmr.2019.10703
DOI: 10.3892/mmr.2019.10703
DOI: 10.3892/mmr.2019.10703
Peña A, Giménez M, Cerezo AM, Serrano S, Prada E, Alramadan M. Resistencia a hormonas tiroideas: sospecha de una nueva mutación en el gen rTHβ. Rev Lab Clín. 2016;9(4): 173-6 .http://dx.doi.org/10.1016/j.labcli.2016.06.001
DOI: 10.1016/j.labcli.2016.06.001
DOI: 10.1016/j.labcli.2016.06.001
Xiao X, Lv C, Zhu T, Chen H. Thyroid hormone resistance and the value of genetics: Three case reports. Medicine (Baltimore). 2019; 98(9):e14675.
DOI: 10.1097/MD.0000000000014675
DOI: 10.1097/MD.0000000000014675
Guo QH, Wang B A, Wang CZ, Wang M, Lu JM, Lv ZH, et al. "Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature." Medicine.2016;95(33):e4415.
DOI: 10.1097/MD.0000000000004415
DOI: 10.1097/MD.0000000000004415
Rivas AM, Lado-Abeal J. Thyroid hormone resistance and its management. Proc. 2016;29:209–11. https://doi.org/10.1080/08998280.2016.11929421
DOI: 10.1080/08998280.2016.11929421
DOI: 10.1080/08998280.2016.11929421
Yusufu A, Chen WJ, Zhang MC. "Thyroid hormone resistance syndrome with P453T mutation in thyroid hormone receptor β gene: A pedigree report." Medicine.2020; 99.44.
DOI: 10.1097/MD.0000000000022824
DOI: 10.1097/MD.0000000000022824
Cyniak-Magierska A. The syndromes of reduced sensitivity to thyroid hormone – the current state of art. Thyroid Res. 2015;8:A5. https://doi.org/10.1186/1756-6614-8-S1-A5
DOI: 10.1186/1756-6614-8-S1-A5
DOI: 10.1186/1756-6614-8-S1-A5
Weiss RE, Refetoff S. "Thyroid hormone resistance syndromes." The Thyroid and Its Diseases. Springer, Cham. 2019. 741-749. https://doi.org/10.1007/978-3-319-72102-6_49
DOI: 10.1007/978-3-319-72102-6_49
DOI: 10.1007/978-3-319-72102-6_49
Revisiones - Metaanálisis: Epidemiología, detección de resistencias y tropismo de VIH-1: puesta al día
Míriam Albert Hernández , Ángel San Miguel Hernández
Publicado: 2020-03-24 /
http://dx.doi.org/10.20960/revmedlab.00014
Originales: Disfunción tiroidea inducida por alemtuzumab en pacientes con esclerosis múltiple
Luiza Stefania Tofan , Amparo Alba Redondo , María Luisa Martínez Triguero , Óscar Fuster Lluch , María Isabel Moreno Gambín , Bonaventura Casanova Estruch , Begoña Laiz Marro
Publicado: 2020-09-22 /
http://dx.doi.org/10.20960/revmedlab.00050
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