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Gene symbol: MECP2. Disease: Rett syndrome (atypical).
Penagarikano O, Martinez-Bouzas C, Mínguez M, Sanz-Parra A, García-Alegría E, Beristain E, Tejada MI. Penagarikano O, et al. Hum Genet. 2005 Dec;118(3-4):547. Hum Genet. 2005. PMID: 16521306 No abstract available.
CHEK2 1100delC is present in familial breast cancer cases of the Basque Country.
Martínez-Bouzas C, Beristain E, Guerra I, Gorostiaga J, Mendizabal JL, De-Pablo JL, García-Alegría E, Sanz-Parra A, Tejada MI. Martínez-Bouzas C, et al. Breast Cancer Res Treat. 2007 May;103(1):111-3. doi: 10.1007/s10549-006-9351-4. Epub 2006 Oct 25. Breast Cancer Res Treat. 2007. PMID: 17063278 No abstract available.
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.
Urquiza P, Laín A, Sanz-Parra A, Moreno J, Bernardo-Seisdedos G, Dubus P, González E, Gutiérrez-de-Juan V, García S, Eraña H, San Juan I, Macías I, Ben Bdira F, Pluta P, Ortega G, Oyarzábal J, González-Muñiz R, Rodríguez-Cuesta J, Anguita J, Díez E, Blouin JM, de Verneuil H, Mato JM, Richard E, Falcón-Pérez JM, Castilla J, Millet O. Urquiza P, et al. Among authors: sanz parra a. Sci Transl Med. 2018 Sep 19;10(459):eaat7467. doi: 10.1126/scitranslmed.aat7467. Sci Transl Med. 2018. PMID: 30232228
A molecular signature for the metabolic syndrome by urine metabolomics.
Bruzzone C, Gil-Redondo R, Seco M, Barragán R, de la Cruz L, Cannet C, Schäfer H, Fang F, Diercks T, Bizkarguenaga M, González-Valle B, Laín A, Sanz-Parra A, Coltell O, de Letona AL, Spraul M, Lu SC, Buguianesi E, Embade N, Anstee QM, Corella D, Mato JM, Millet O. Bruzzone C, et al. Among authors: sanz parra a. Cardiovasc Diabetol. 2021 Jul 28;20(1):155. doi: 10.1186/s12933-021-01349-9. Cardiovasc Diabetol. 2021. PMID: 34320987 Free PMC article.
18 results