H
Hartmut P. H. Neumann
Researcher at University of Freiburg
Publications - 272
Citations - 19371
Hartmut P. H. Neumann is an academic researcher from University of Freiburg. The author has contributed to research in topics: Pheochromocytoma & Germline mutation. The author has an hindex of 72, co-authored 272 publications receiving 18018 citations. Previous affiliations of Hartmut P. H. Neumann include Turku University Hospital & National Institutes of Health.
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Journal ArticleDOI
Germ-line mutations in nonsyndromic pheochromocytoma.
Hartmut P. H. Neumann,Birke Bausch,Sarah R. McWhinney,Bernhard U. Bender,Oliver Gimm,Gerlind Franke,Joerg Schipper,Joachim Klisch,Carsten Altehoefer,Klaus Zerres,Andrzej Januszewicz,Wendy M. Smith,Robin Munk,Tanja Manz,Sven Glaesker,Thomas W. Apel,Markus Treier,Martin Reineke,Martin K. Walz,Cuong Hoang-Vu,Michael Brauckhoff,Andreas Klein-Franke,Peter Klose,Heinrich Schmidt,Margarete Maier-Woelfle,Mariola Pęczkowska,Cesary Szmigielski,Charis Eng +27 more
TL;DR: Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheosene-associated syndromes that would otherwise be missed.
Journal ArticleDOI
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
Hartmut P. H. Neumann,Christian Pawlu,Mariola Pęczkowska,Birke Bausch,Sarah R. McWhinney,Mihaela Muresan,Mary Buchta,Gerlind Franke,Joachim Klisch,Thorsten A. Bley,Stefan Hoegerle,Carsten Christof Boedeker,Giuseppe Opocher,Jörg Schipper,Andrzej Januszewicz,Charis Eng +15 more
TL;DR: In this article, the differences in clinical features in carriers of SDHB mutations and SDHD mutations were determined in a population-based genetic screening for Paraganglioma syndromes type 4 and type 1 (PGL-1), respectively.
Journal ArticleDOI
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
Lois M. Mulligan,Lois M. Mulligan,Charis Eng,Catherine S. Healey,David Clayton,John B.J. Kwok,E. Gardner,M. A. Ponder,Andrea Frilling,Charles E. Jackson,Hendrik Lehnert,Hartmut P. H. Neumann,Stephen N. Thibodeau,Bruce A.J. Ponder +13 more
TL;DR: The data show a strong correlation between disease phenotype and the nature and position of theRET mutation, suggesting that a simple, constitutive activation of the RET tyrosine kinase is unlikely to explain the events leading to MEN 2A and FMTC.
Journal ArticleDOI
von Hippel–Lindau disease: A clinical and scientific review
TL;DR: The clinical and genetic features of VHL disease are reviewed, the molecular pathogenesis is reviewed and clinical management and tumour surveillance strategies are outlined.
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Novel mutations of the MET proto-oncogene in papillary renal carcinomas.
Laura S. Schmidt,Kerstin Junker,Noboru Nakaigawa,T. Kinjerski,Gregor Weirich,M. Miller,Irina A. Lubensky,Hartmut P. H. Neumann,Hiltrud Brauch,Jochen Decker,Cathy D. Vocke,J. A. Brown,Robert B. Jenkins,Stéphane Richard,Ulf S.R. Bergerheim,Bernard Gerrard,Michael Dean,W. M. Linehan,Berton Zbar +18 more
TL;DR: The low frequency of MET mutations in noninherited papillary renal carcinomas (PRC) suggests that non inherited PRC may develop by a different mechanism than hereditary papillary kidneys carcinoma.