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Page 1
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.
Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J. Vuorela P, et al. Among authors: bausch b. Genet Med. 2007 Oct;9(10):690-4. doi: 10.1097/gim.0b013e318156e68e. Genet Med. 2007. PMID: 18073582 Free article.
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. 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
65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma.
Neumann HP, Young WF Jr, Krauss T, Bayley JP, Schiavi F, Opocher G, Boedeker CC, Tirosh A, Castinetti F, Ruf J, Beltsevich D, Walz M, Groeben HT, von Dobschuetz E, Gimm O, Wohllk N, Pfeifer M, Lourenço DM Jr, Peczkowska M, Patocs A, Ngeow J, Makay Ö, Shah NS, Tischler A, Leijon H, Pennelli G, Villar Gómez de Las Heras K, Links TP, Bausch B, Eng C. Neumann HP, et al. Among authors: bausch b. Endocr Relat Cancer. 2018 Aug;25(8):T201-T219. doi: 10.1530/ERC-18-0085. Epub 2018 May 24. Endocr Relat Cancer. 2018. PMID: 29794110 Review.
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: bausch b. N Engl J Med. 2002 May 9;346(19):1459-66. doi: 10.1056/NEJMoa020152. N Engl J Med. 2002. PMID: 12000816 Free article.
Genetic testing for pheochromocytoma-associated syndromes.
Pawlu C, Bausch B, Reisch N, Neumann HP. Pawlu C, et al. Among authors: bausch b. Ann Endocrinol (Paris). 2005 Jun;66(3):178-85. doi: 10.1016/s0003-4266(05)81749-4. Ann Endocrinol (Paris). 2005. PMID: 15988378 Review.
44 results