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Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.
Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peçzkowska M, Morrison CD, Lehtonen R, Januszewicz A, Järvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C. Vanharanta S, et al. Among authors: eng c. Am J Hum Genet. 2004 Jan;74(1):153-9. doi: 10.1086/381054. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685938 Free PMC article.
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.
Marsh DJ, Roth S, Lunetta KL, Hemminki A, Dahia PL, Sistonen P, Zheng Z, Caron S, van Orsouw NJ, Bodmer WF, Cottrell SE, Dunlop MG, Eccles D, Hodgson SV, Järvinen H, Kellokumpu I, Markie D, Neale K, Phillips R, Rozen P, Syngal S, Vijg J, Tomlinson IP, Aaltonen LA, Eng C. Marsh DJ, et al. Among authors: eng c. Cancer Res. 1997 Nov 15;57(22):5017-21. Cancer Res. 1997. PMID: 9371495
Inherited pheochromocytoma.
Neumann HP, Bender BU, Januszewicz A, Janetschek G, Eng C. Neumann HP, et al. Among authors: eng c. Adv Nephrol Necker Hosp. 1997;27:361-76. Adv Nephrol Necker Hosp. 1997. PMID: 9408456 Review. No abstract available.
Case 13-2001: genetic testing in pheochromocytoma.
Neumann HP, Reincke M, Eng C. Neumann HP, et al. Among authors: eng c. N Engl J Med. 2001 Aug 16;345(7):547-8. N Engl J Med. 2001. PMID: 11519521 No abstract available.
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Järvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. Zhou XP, et al. Among authors: eng c. Am J Hum Genet. 2001 Oct;69(4):704-11. doi: 10.1086/323703. Epub 2001 Aug 30. Am J Hum Genet. 2001. PMID: 11536076 Free PMC article.
Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.
Humar B, Toro T, Graziano F, Müller H, Dobbie Z, Kwang-Yang H, Eng C, Hampel H, Gilbert D, Winship I, Parry S, Ward R, Findlay M, Christian A, Tucker M, Tucker K, Merriman T, Guilford P. Humar B, et al. Among authors: eng c. Hum Mutat. 2002 May;19(5):518-25. doi: 10.1002/humu.10067. Hum Mutat. 2002. PMID: 11968084
Germ-line mutations in nonsyndromic pheochromocytoma.
Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peçzkowska M, Szmigielski C, Eng C; Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. Neumann HP, et al. Among authors: eng c. N Engl J Med. 2002 May 9;346(19):1459-66. doi: 10.1056/NEJMoa020152. N Engl J Med. 2002. PMID: 12000816 Free article.
1,901 results