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GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R; International Pancreatic Agenesis Consortium; Ferrer J, Hattersley AT, Ellard S. Allen HL, et al. Nat Genet. 2011 Dec 11;44(1):20-22. doi: 10.1038/ng.1035. Nat Genet. 2011. PMID: 22158542 Free PMC article.
5q11.2 deletion in a patient with tracheal agenesis.
de Jong EM, Douben H, Eussen BH, Felix JF, Wessels MW, Poddighe PJ, Nikkels PG, de Krijger RR, Tibboel D, de Klein A. de Jong EM, et al. Among authors: de klein a, de krijger rr. Eur J Hum Genet. 2010 Nov;18(11):1265-8. doi: 10.1038/ejhg.2010.84. Epub 2010 Jun 16. Eur J Hum Genet. 2010. PMID: 20551993 Free PMC article.
Integrated genomic characterization of adrenocortical carcinoma.
Assié G, Letouzé E, Fassnacht M, Jouinot A, Luscap W, Barreau O, Omeiri H, Rodriguez S, Perlemoine K, René-Corail F, Elarouci N, Sbiera S, Kroiss M, Allolio B, Waldmann J, Quinkler M, Mannelli M, Mantero F, Papathomas T, De Krijger R, Tabarin A, Kerlan V, Baudin E, Tissier F, Dousset B, Groussin L, Amar L, Clauser E, Bertagna X, Ragazzon B, Beuschlein F, Libé R, de Reyniès A, Bertherat J. Assié G, et al. Nat Genet. 2014 Jun;46(6):607-12. doi: 10.1038/ng.2953. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747642
Single-cell transcriptomics of human embryos identifies multiple sympathoblast lineages with potential implications for neuroblastoma origin.
Kameneva P, Artemov AV, Kastriti ME, Faure L, Olsen TK, Otte J, Erickson A, Semsch B, Andersson ER, Ratz M, Frisén J, Tischler AS, de Krijger RR, Bouderlique T, Akkuratova N, Vorontsova M, Gusev O, Fried K, Sundström E, Mei S, Kogner P, Baryawno N, Kharchenko PV, Adameyko I. Kameneva P, et al. Among authors: de krijger rr. Nat Genet. 2021 May;53(5):694-706. doi: 10.1038/s41588-021-00818-x. Epub 2021 Apr 8. Nat Genet. 2021. PMID: 33833454 Free PMC article.
338 results