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Mesenchymal Hamartoma of the Liver and DICER1 Syndrome.
Apellaniz-Ruiz M, Segni M, Kettwig M, Glüer S, Pelletier D, Nguyen VH, Wagener R, López C, Muchantef K, Bouron-Dal Soglio D, Sabbaghian N, Wu MK, Zannella S, Fabian MR, Siebert R, Menke J, Priest JR, Foulkes WD. Apellaniz-Ruiz M, et al. Among authors: fabian mr. N Engl J Med. 2019 May 9;380(19):1834-1842. doi: 10.1056/NEJMoa1812169. N Engl J Med. 2019. PMID: 31067372
Functional characterization of multiple DICER1 mutations in an adolescent.
Wu MK, de Kock L, Conwell LS, Stewart CJ, King BR, Choong CS, Hussain K, Sabbaghian N, MacRae IJ, Fabian MR, Foulkes WD. Wu MK, et al. Among authors: fabian mr. Endocr Relat Cancer. 2016 Feb;23(2):L1-5. doi: 10.1530/ERC-15-0460. Epub 2015 Nov 6. Endocr Relat Cancer. 2016. PMID: 26545620 No abstract available.
Anaplastic sarcomas of the kidney are characterized by DICER1 mutations.
Wu MK, Vujanic GM, Fahiminiya S, Watanabe N, Thorner PS, O'Sullivan MJ, Fabian MR, Foulkes WD. Wu MK, et al. Among authors: fabian mr. Mod Pathol. 2018 Jan;31(1):169-178. doi: 10.1038/modpathol.2017.100. Epub 2017 Sep 1. Mod Pathol. 2018. PMID: 28862265 Free article.
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD. Rivera B, et al. Among authors: fabian mr. J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206. J Clin Invest. 2020. PMID: 31805011 Free PMC article. Clinical Trial.
56 results