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Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.
Hagl B, Spielberger BD, Thoene S, Bonnal S, Mertes C, Winter C, Nijman IJ, Verduin S, Eberherr AC, Puel A, Schindler D, Ruland J, Meitinger T, Gagneur J, Orange JS, van Gijn ME, Renner ED. Hagl B, et al. Among authors: bonnal s. Sci Rep. 2018 Nov 13;8(1):16719. doi: 10.1038/s41598-018-34953-z. Sci Rep. 2018. PMID: 30425284 Free PMC article.
Pancreatic microexons regulate islet function and glucose homeostasis.
Juan-Mateu J, Bajew S, Miret-Cuesta M, Íñiguez LP, Lopez-Pascual A, Bonnal S, Atla G, Bonàs-Guarch S, Ferrer J, Valcárcel J, Irimia M. Juan-Mateu J, et al. Among authors: bonnal s. Nat Metab. 2023 Feb;5(2):219-236. doi: 10.1038/s42255-022-00734-2. Epub 2023 Feb 9. Nat Metab. 2023. PMID: 36759540
SF3B1 mutation-mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia.
López-Oreja I, Gohr A, Playa-Albinyana H, Giró A, Arenas F, Higashi M, Tripathi R, López-Guerra M, Irimia M, Aymerich M, Valcárcel J, Bonnal S, Colomer D. López-Oreja I, et al. Among authors: bonnal s. Life Sci Alliance. 2023 Aug 10;6(11):e202301955. doi: 10.26508/lsa.202301955. Print 2023 Nov. Life Sci Alliance. 2023. PMID: 37562845 Free PMC article.
34 results