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Page 1
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.
Amar L, Pacak K, Steichen O, Akker SA, Aylwin SJB, Baudin E, Buffet A, Burnichon N, Clifton-Bligh RJ, Dahia PLM, Fassnacht M, Grossman AB, Herman P, Hicks RJ, Januszewicz A, Jimenez C, Kunst HPM, Lewis D, Mannelli M, Naruse M, Robledo M, Taïeb D, Taylor DR, Timmers HJLM, Treglia G, Tufton N, Young WF, Lenders JWM, Gimenez-Roqueplo AP, Lussey-Lepoutre C. Amar L, et al. Among authors: januszewicz a. Nat Rev Endocrinol. 2021 Jul;17(7):435-444. doi: 10.1038/s41574-021-00492-3. Epub 2021 May 21. Nat Rev Endocrinol. 2021. PMID: 34021277 Free PMC article. Review.
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg-Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pfäffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C, Neumann HP; European-American Phaeochromocytoma Registry Study Group. Bausch B, et al. Among authors: januszewicz a. J Clin Endocrinol Metab. 2007 Jul;92(7):2784-92. doi: 10.1210/jc.2006-2833. Epub 2007 Apr 10. J Clin Endocrinol Metab. 2007. PMID: 17426081
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.
Peczkowska M, Erlic Z, Hoffmann MM, Furmanek M, Cwikla J, Kubaszek A, Prejbisz A, Szutkowski Z, Kawecki A, Chojnowski K, Lewczuk A, Litwin M, Szyfter W, Walter MA, Sullivan M, Eng C, Januszewicz A, Neumann HP. Peczkowska M, et al. Among authors: januszewicz a. J Clin Endocrinol Metab. 2008 Dec;93(12):4818-25. doi: 10.1210/jc.2008-1290. Epub 2008 Sep 30. J Clin Endocrinol Metab. 2008. PMID: 18826997 Free PMC article.
Cardiovascular manifestations of phaeochromocytoma.
Prejbisz A, Lenders JW, Eisenhofer G, Januszewicz A. Prejbisz A, et al. Among authors: januszewicz a. J Hypertens. 2011 Nov;29(11):2049-60. doi: 10.1097/HJH.0b013e32834a4ce9. J Hypertens. 2011. PMID: 21826022 Review.
Reference intervals for plasma free metanephrines with an age adjustment for normetanephrine for optimized laboratory testing of phaeochromocytoma.
Eisenhofer G, Lattke P, Herberg M, Siegert G, Qin N, Därr R, Hoyer J, Villringer A, Prejbisz A, Januszewicz A, Remaley A, Martucci V, Pacak K, Ross HA, Sweep FC, Lenders JW. Eisenhofer G, et al. Among authors: januszewicz a. Ann Clin Biochem. 2013 Jan;50(Pt 1):62-9. doi: 10.1258/acb.2012.012066. Epub 2012 Oct 12. Ann Clin Biochem. 2013. PMID: 23065528 Free PMC article.
Mortality associated with phaeochromocytoma.
Prejbisz A, Lenders JW, Eisenhofer G, Januszewicz A. Prejbisz A, et al. Among authors: januszewicz a. Horm Metab Res. 2013 Feb;45(2):154-8. doi: 10.1055/s-0032-1331217. Epub 2013 Jan 15. Horm Metab Res. 2013. PMID: 23322516 Review.
Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.
Pęczkowska M, Kowalska A, Sygut J, Waligórski D, Malinoc A, Janaszek-Sitkowska H, Prejbisz A, Januszewicz A, Neumann HP. Pęczkowska M, et al. Among authors: januszewicz a. Clin Endocrinol (Oxf). 2013 Dec;79(6):817-23. doi: 10.1111/cen.12218. Epub 2013 May 3. Clin Endocrinol (Oxf). 2013. PMID: 23551045
Biochemical diagnosis of phaeochromocytoma using plasma-free normetanephrine, metanephrine and methoxytyramine: importance of supine sampling under fasting conditions.
Därr R, Pamporaki C, Peitzsch M, Miehle K, Prejbisz A, Peczkowska M, Weismann D, Beuschlein F, Sinnott R, Bornstein SR, Neumann HP, Januszewicz A, Lenders J, Eisenhofer G. Därr R, et al. Among authors: januszewicz a. Clin Endocrinol (Oxf). 2014 Apr;80(4):478-86. doi: 10.1111/cen.12327. Epub 2013 Oct 17. Clin Endocrinol (Oxf). 2014. PMID: 24102244 Clinical Trial.
336 results