Výsledky vyhledávání - "Fernando Palos-Paz"

Estudio clínico y molecular de cinco familias con resistencia a la acción de las hormonas tiroideas

Autor: Isabel Castro Piedras, Jesús Martin Calamata, Berta Victoria, Ignacio Bernabeú Moron, María Teresa Calvo, Fernando Palos Paz, Olga Barca Mallo, David Araujo Vilar, Roberto Peinó, Diego Peteiro, Joaquin Lado Abeal, Ramón Albero Gamboa

Publikováno v: Medicina Clínica. 137:551-554

Fundamento y objetivo La resistencia a la accion de las hormonas tiroideas (SRHT) es un sindrome causado mayoritariamente por mutaciones en el gen receptor beta de las hormonas tiroideas (THRB). Se estudian cinco familias con fenotipo de SRHT. Pacien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::29a52901625f9f87306a454f34db1397
https://doi.org/10.1016/j.medcli.2010.11.037

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A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes

Autor: Ramon Albero-Gamboa, Fernando Palos-Paz, Joaquin Lado-Abeal, Isabel Castro-Piedras, Jose Ignacio Labarta-Aizpún

Publikováno v: Thyroid : official journal of the American Thyroid Association. 21(2)

Resistance to thyrotropin (TSH) causes congenital hypothyroidism (CH). TSH receptor (TSHR) and adenylate cyclase-stimulating G alpha protein subunit (GNAS) loss-of-function mutations cause TSH resistance. We describe a family with TSH resistance and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aa6a5c554087a5b85f340d11fb9693b
https://pubmed.ncbi.nlm.nih.gov/21186955

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[Clinical and molecular study of five families with resistance to thyroid hormones]

Autor: Joaquin, Lado Abeal, Ramón, Albero Gamboa, David, Araujo Vilar, Olga, Barca Mallo, Ignacio, Bernabeú Moron, María Teresa, Calvo, Isabel, Castro Piedras, Jesús, Martin Calamata, Fernando, Palos Paz, Roberto, Peinó, Diego, Peteiro, Berta, Victoria

Publikováno v: Medicina clinica. 137(12)

Resistance to thyroid hormone (RTH) is a syndrome mostly caused by mutations in thyroid hormone receptor beta gen (THRB). We present five families with RTH phenotype.THRB gene sequencing. In vitro studies to evaluate the mutants response to thyroid h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::90288c3b05fbeb82eb514391e6515a27
https://pubmed.ncbi.nlm.nih.gov/21703645

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