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A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
Pacheco-Cuéllar G, Gauthier J, Désilets V, Lachance C, Lemire-Girard M, Rypens F, Le Deist F, Decaluwe H, Duval M, Bouron-Dal Soglio D, Kokta V, Haddad É, Campeau PM. Pacheco-Cuéllar G, et al. J Bone Miner Res. 2017 Sep;32(9):1853-1859. doi: 10.1002/jbmr.3173. Epub 2017 Jun 26. J Bone Miner Res. 2017. PMID: 28543917 Free article.
A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.
Bouron-Dal Soglio D, de Kock L, Gauci R, Sabbaghian N, Thomas E, Atkinson HC, Pachter N, Ryan S, Walsh JP, Kumarasinghe MP, Carpenter K, Aydoğan A, Stewart CJR, Foulkes WD, Choong CS. Bouron-Dal Soglio D, et al. Eur Thyroid J. 2018 Jan;7(1):44-50. doi: 10.1159/000481620. Epub 2017 Nov 21. Eur Thyroid J. 2018. PMID: 29594054 Free PMC article.
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
de Kock L, Wang YC, Revil T, Badescu D, Rivera B, Sabbaghian N, Wu M, Weber E, Sandoval C, Hopman SM, Merks JH, van Hagen JM, Bouts AH, Plager DA, Ramasubramanian A, Forsmark L, Doyle KL, Toler T, Callahan J, Engelenberg C, Bouron-Dal Soglio D, Priest JR, Ragoussis J, Foulkes WD. de Kock L, et al. J Med Genet. 2016 Jan;53(1):43-52. doi: 10.1136/jmedgenet-2015-103428. Epub 2015 Oct 16. J Med Genet. 2016. PMID: 26475046
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion.
de Kock L, Geoffrion D, Rivera B, Wagener R, Sabbaghian N, Bens S, Ellezam B, Bouron-Dal Soglio D, Ordóñez J, Sacharow S, Polo Nieto JF, Guillerman RP, Vujanic GM, Priest JR, Siebert R, Foulkes WD. de Kock L, et al. Genes Chromosomes Cancer. 2018 May;57(5):223-230. doi: 10.1002/gcc.22523. Epub 2018 Feb 10. Genes Chromosomes Cancer. 2018. PMID: 29315962
45 results