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International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Nevado J, Ho KS, Zollino M, Blanco R, Cobaleda C, Golzio C, Beaudry-Bellefeuille I, Berrocoso S, Limeres J, Barrúz P, Serrano-Martín C, Cafiero C, Málaga I, Marangi G, Campos-Sánchez E, Moriyón-Iglesias T, Márquez S, Markham L, Twede H, Lortz A, Olson L, Sheng X, Weng C, Wassman ER 3rd, Newcomb T, Wassman ER, Carey JC, Battaglia A, López-Granados E; Wolf-Hirschhorn Spain's Working Group; Douglas D, Lapunzina P. Nevado J, et al. Am J Med Genet A. 2020 Jan;182(1):257-267. doi: 10.1002/ajmg.a.61406. Epub 2019 Nov 25. Am J Med Genet A. 2020. PMID: 31769173
Integration of "Omics" Strategies for Biomarkers Discovery and for the Elucidation of Molecular Mechanisms Underlying Brugada Syndrome.
Scumaci D, Oliva A, Concolino A, Curcio A, Fiumara CV, Tammè L, Campuzano O, Pascali VL, Coll M, Iglesias A, Berne P, Casu G, Olivo E, Ausania F, Ricci P, Indolfi C, Brugada J, Brugada R, Cuda G. Scumaci D, et al. Proteomics Clin Appl. 2018 Nov;12(6):e1800065. doi: 10.1002/prca.201800065. Epub 2018 Jul 20. Proteomics Clin Appl. 2018. PMID: 29956481
IκBα deficiency imposes a fetal phenotype to intestinal stem cells.
Marruecos L, Bertran J, Guillén Y, González J, Batlle R, López-Arribillaga E, Garrido M, Ruiz-Herguido C, Lisiero D, González-Farré M, Arce-Gallego S, Iglesias M, Nebreda AR, Miyamoto S, Bigas A, Espinosa L. Marruecos L, et al. EMBO Rep. 2020 Jun 4;21(6):e49708. doi: 10.15252/embr.201949708. Epub 2020 Apr 9. EMBO Rep. 2020. PMID: 32270911 Free PMC article.
Identification of relapse-associated gene mutations by next-generation sequencing in low-risk acute myeloid leukaemia patients.
Prieto-Conde MI, Jiménez C, García-Álvarez M, Ramos F, Medina A, Cuello R, Balanzategui A, Alonso JM, Sarasquete ME, Queizán JA, Alcoceba M, Bárez A, Puig N, Cantalapiedra A, Gutiérrez NC, García-Sanz R, González-Díaz M, Chillón MC. Prieto-Conde MI, et al. Br J Haematol. 2020 May;189(4):718-730. doi: 10.1111/bjh.16420. Epub 2020 Mar 2. Br J Haematol. 2020. PMID: 32124426 Free article.
19 results