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http://hdl.handle.net/10662/22337
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Campo DC | Valor | idioma |
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dc.contributor.author | Fernández Rebollo, Eduardo | - |
dc.contributor.author | Lecumberri Santamaría, Beatriz | - |
dc.contributor.author | Garin Elkoro, Intza | - |
dc.contributor.author | Arroyo Díez, Francisco Javier | - |
dc.contributor.author | Bernal Chico, Ana | - |
dc.contributor.author | Goñi Goicoechea, Fernando | - |
dc.contributor.author | Orduña Espinosa, Rosa | - |
dc.contributor.author | Spanish PHP Group | - |
dc.contributor.author | Castaño González, Luis | - |
dc.contributor.author | Pérez de Nanclares Leal, Guiomar | - |
dc.date.accessioned | 2024-09-19T14:35:02Z | - |
dc.date.available | 2024-09-19T14:35:02Z | - |
dc.date.issued | 2010 | - |
dc.identifier.issn | 0804-4643 | - |
dc.identifier.uri | http://hdl.handle.net/10662/22337 | - |
dc.description | Publicado en: European Journal of Endocrinology, Volume 163, Issue 6, Dec 2010, Pages 953–962, https://doi.org/10.1530/EJE-10-0435 | es_ES |
dc.description.abstract | PURPOSE: Type I pseudohypoparathyroidism (PHP-I) can be subclassified into Ia and Ib, depending on the presence or absence of Albright's hereditary osteodystrophy's phenotype, diminished α-subunit of the stimulatory G protein (Gsα) activity and multihormonal resistance. Whereas PHP-Ia is mainly associated with heterozygous inactivating mutations in Gsα-coding exons of GNAS, PHP-Ib is caused by imprinting defects of GNAS. To date, just one patient with PHP and complete paternal uniparental disomy (UPD) has been described. We sought to identify the underlining molecular defect in twenty patients with parathyroid hormone resistance, hypocalcemia and hyperphosphatemia, and abnormal methylation pattern at GNAS locus. METHODS: Microsatellite typing and comparative genome hybridization were performed for proband and parents. RESULTS: We describe four patients with partial paternal UPD of chromosome 20 involving pat20qUPD in one case, from 20q13.13-qter in two cases, and pat20p heterodisomy plus interstitial 20q isodisomy in one patient. CONCLUSIONS: These observations demonstrate that mitotic recombination of chromosome 20 can also give rise to UPD and PHP, a situation similar to other imprinting disorders, such as Beckwith–Wiedemann syndrome or neonatal diabetes. | es_ES |
dc.description.sponsorship | G Pérez de Nanclares is co-funded by the Instituto de Salud Carlos III I3SNS Program (CP03/0064; SIVI 1395/09). I Garin has received a grant from the Basque Department of Education (BFI06.266). This work was partially funded by grant GV2008/111035 from the Basque Department of Health and BIO08/ER/001. This group is also supported by the Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER – the Spanish Biomedical Network Research Centre on Rare Diseases), ISCIII. | es_ES |
dc.format.extent | 11 p. | es_ES |
dc.format.mimetype | application/pdf | en_US |
dc.language.iso | eng | es_ES |
dc.publisher | Oxford University Press | es_ES |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Pseudohipoparatiroidismo tipo I | es_ES |
dc.subject | Type I pseudohypoparathyroidism | es_ES |
dc.subject | Disomía paterna uniparental | es_ES |
dc.subject | Paternal uniparental disomy | es_ES |
dc.subject | Hormona paratiroidea | es_ES |
dc.subject | Parathyroid hormone | es_ES |
dc.subject | Hipocalcemia | es_ES |
dc.subject | Hypocalcemia | es_ES |
dc.subject | Hiperfosfatemia | es_ES |
dc.subject | Hyperphosphatemia | es_ES |
dc.subject | Estudio clínico | es_ES |
dc.subject | Clinical study | es_ES |
dc.title | New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism | es_ES |
dc.type | article | es_ES |
dc.description.version | peerReviewed | es_ES |
europeana.type | TEXT | en_US |
dc.rights.accessRights | openAccess | es_ES |
dc.subject.unesco | 3205.02 Endocrinología | es_ES |
europeana.dataProvider | Universidad de Extremadura. España | es_ES |
dc.identifier.bibliographicCitation | Eduardo Fernández-Rebollo, Beatriz Lecumberri, Intza Garin, Javier Arroyo, Ana Bernal-Chico, Fernando Goñi, Rosa Orduña, Spanish PHP Group, Luis Castaño, Guiomar Pérez de Nanclares, New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism, European Journal of Endocrinology, Volume 163, Issue 6, Dec 2010, Pages 953–962, https://doi.org/10.1530/EJE-10-0435 | es_ES |
dc.type.version | acceptedVersion | es_ES |
dc.contributor.affiliation | Hospital Universitario de Cruces. Vizcaya | es_ES |
dc.contributor.affiliation | Universidad de Extremadura. Departamento de Ciencias Biomédicas | es_ES |
dc.contributor.affiliation | Hospital Universitario La Paz. Madrid | es_ES |
dc.contributor.affiliation | Complejo Hospitalario Universitario de Cáceres | es_ES |
dc.contributor.affiliation | Hospital de Basurto. Bilbao | es_ES |
dc.contributor.affiliation | Hospital Universitario San Cecilio. Granada | es_ES |
dc.contributor.affiliation | Universidad del País Vasco | es_ES |
dc.relation.publisherversion | https://academic.oup.com/ejendo/article-abstract/163/6/953/6676625?redirectedFrom=fulltext&login=true | es_ES |
dc.identifier.doi | 10.1530/EJE-10-0435 | - |
dc.identifier.publicationtitle | European Journal of Endocrinology | es_ES |
dc.identifier.publicationfirstpage | 1 | es_ES |
dc.identifier.publicationlastpage | 11 | es_ES |
dc.identifier.publicationvolume | 163 | es_ES |
dc.identifier.e-issn | 1479-683X | - |
dc.identifier.orcid | 0000-0002-6323-634X | es_ES |
Colección: | DCBIO - Artículos |
Archivos
Archivo | Descripción | Tamaño | Formato | |
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EJE-10-0435_AAM.pdf | 288,37 kB | Adobe PDF | Descargar |
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