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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V. Ait-El-Mkadem S, et al. Among authors: richter s. Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15. Am J Hum Genet. 2017. PMID: 27989324 Free PMC article.
Opposing effects of HIF1α and HIF2α on chromaffin cell phenotypic features and tumor cell proliferation: Insights from MYC-associated factor X.
Qin N, de Cubas AA, Garcia-Martin R, Richter S, Peitzsch M, Menschikowski M, Lenders JW, Timmers HJ, Mannelli M, Opocher G, Economopoulou M, Siegert G, Chavakis T, Pacak K, Robledo M, Eisenhofer G. Qin N, et al. Among authors: richter s. Int J Cancer. 2014 Nov 1;135(9):2054-64. doi: 10.1002/ijc.28868. Epub 2014 Apr 7. Int J Cancer. 2014. PMID: 24676840
Pitfalls in genetic analysis of pheochromocytomas/paragangliomas-case report.
Canu L, Rapizzi E, Zampetti B, Fucci R, Nesi G, Richter S, Qin N, Giachè V, Bergamini C, Parenti G, Valeri A, Ercolino T, Eisenhofer G, Mannelli M. Canu L, et al. Among authors: richter s. J Clin Endocrinol Metab. 2014 Jul;99(7):2321-6. doi: 10.1210/jc.2013-4453. Epub 2014 Apr 23. J Clin Endocrinol Metab. 2014. PMID: 24758185
Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency.
Richter S, Peitzsch M, Rapizzi E, Lenders JW, Qin N, de Cubas AA, Schiavi F, Rao JU, Beuschlein F, Quinkler M, Timmers HJ, Opocher G, Mannelli M, Pacak K, Robledo M, Eisenhofer G. Richter S, et al. J Clin Endocrinol Metab. 2014 Oct;99(10):3903-11. doi: 10.1210/jc.2014-2151. Epub 2014 Jul 11. J Clin Endocrinol Metab. 2014. PMID: 25014000 Free PMC article.
Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.
Cascón A, Comino-Méndez I, Currás-Freixes M, de Cubas AA, Contreras L, Richter S, Peitzsch M, Mancikova V, Inglada-Pérez L, Pérez-Barrios A, Calatayud M, Azriel S, Villar-Vicente R, Aller J, Setién F, Moran S, Garcia JF, Río-Machín A, Letón R, Gómez-Graña Á, Apellániz-Ruiz M, Roncador G, Esteller M, Rodríguez-Antona C, Satrústegui J, Eisenhofer G, Urioste M, Robledo M. Cascón A, et al. Among authors: richter s. J Natl Cancer Inst. 2015 Mar 11;107(5):djv053. doi: 10.1093/jnci/djv053. J Natl Cancer Inst. 2015. PMID: 25766404
Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.
Remacha L, Comino-Méndez I, Richter S, Contreras L, Currás-Freixes M, Pita G, Letón R, Galarreta A, Torres-Pérez R, Honrado E, Jiménez S, Maestre L, Moran S, Esteller M, Satrústegui J, Eisenhofer G, Robledo M, Cascón A. Remacha L, et al. Among authors: richter s. Clin Cancer Res. 2017 Oct 15;23(20):6315-6324. doi: 10.1158/1078-0432.CCR-16-2250. Epub 2017 Jul 18. Clin Cancer Res. 2017. PMID: 28720665
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.
Calsina B, Currás-Freixes M, Buffet A, Pons T, Contreras L, Letón R, Comino-Méndez I, Remacha L, Calatayud M, Obispo B, Martin A, Cohen R, Richter S, Balmaña J, Korpershoek E, Rapizzi E, Deutschbein T, Vroonen L, Favier J, de Krijger RR, Fassnacht M, Beuschlein F, Timmers HJ, Eisenhofer G, Mannelli M, Pacak K, Satrústegui J, Rodríguez-Antona C, Amar L, Cascón A, Dölker N, Gimenez-Roqueplo AP, Robledo M. Calsina B, et al. Among authors: richter s. Genet Med. 2018 Dec;20(12):1652-1662. doi: 10.1038/s41436-018-0068-7. Epub 2018 Jul 16. Genet Med. 2018. PMID: 30008476 Free PMC article.
2,142 results