Research Topics
Species | H P NeumannSummaryAffiliation: University of Freiburg Country: Germany Publications
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Publications
How many pathways to pheochromocytoma?Hartmut P H Neumann
Nephrology Section, Department of Medicine, Albert Ludwigs University, Freiburg, Germany
Semin Nephrol 22:89-99. 2002..In addition, genetic screening of relatives at risk is now feasible. In this article, we review recent clinical and molecular advances in our understanding of pheochromocytoma...- Germ-line mutations in nonsyndromic pheochromocytomaHartmut P H Neumann
Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
N Engl J Med 346:1459-66. 2002.... - New genetic causes of pheochromocytoma: current concepts and the clinical relevanceHartmut P H Neumann
Department of Medicine, Albert Ludwigs University, Freiburg, Germany
Keio J Med 54:15-21. 2005..Experiences in this field of medicine have shown that optimal management of patients with pheochromocytoma-associated syndromes is a high challenge. National registries may be instrumental in order to provide with adequate facilities... - Preserved adrenocortical function after laparoscopic bilateral adrenal sparing surgery for hereditary pheochromocytomaH P Neumann
Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
J Clin Endocrinol Metab 84:2608-10. 1999..Minimally invasive adrenal sparing surgery by means of laparoscopy was explored for the treatment of bilateral pheochromocytoma. We report on the cure rate and adrenocortical function in a series of patients treated accordingly... - Genotype-phenotype correlations in von Hippel-Lindau diseaseH P Neumann
Department of Nephrology and Hypertension, University of Freiburg, Germany
J Intern Med 243:541-5. 1998..This review summarizes all known mutations and includes the centres which performed the mutation analyses and may provide further information regarding specific mutations... - Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type IIH P Neumann
Department of Nephrology and Hypertension, Albert Ludwigs University of Freiburg, Germany
JAMA 274:1149-51. 1995.... 
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndromeZoran Erlic
Department of Nephrology, Section of Preventive Medicine, Albert Ludwigs University, Freiburg, D 79106 Freiburg, Germany
J Clin Endocrinol Metab 95:308-13. 2010..This observation of coincident DNA variants, both reported as pathogenic, in two known susceptibility genes prompted the question of their pathogenic relevance...- VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortalityB U Bender
Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
J Med Genet 38:508-14. 2001..Germline mutations of the VHL gene cause von Hippel-Lindau syndrome (VHL). In southern Germany, a specific mutation in this gene, c.505 T>C, is one of the most frequent alterations owing to a founder effect... - Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous systemS Glasker
Department of Nephrology and Hypertension, Albert Ludwigs University, Medizinische Universitatsklinik, Hugstetter Strasse 55, D 79106 Freiburg, Germany
J Neurol Neurosurg Psychiatry 70:644-8. 2001..The systematic and complete examination of these genetic and epigenetic phenomena in large series of von Hippel-Lindau disease related and sporadic hemangioblastomas has, thus far, not been performed... - Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2Carsten C Boedeker
Department of Otorhinolaryngology, Albert Ludwigs University, Freiburg D 79106, Germany
J Clin Endocrinol Metab 94:1938-44. 2009..Reports of non-SDHx HNP presentations are scarce and guidance for genetic testing nonexistent... 
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patientsZoran Erlic
Department of Nephrology, Section of Preventive Medicine, Albert Ludwigs University, Hugstetter Strasse 55, Freiburg, Germany
Clin Cancer Res 15:6378-85. 2009..The aim of the study is to systematically obtain a robust algorithm to identify who should be genetically tested, and to determine the order in which genes should be tested...- Mutations of the SDHB and SDHD genesChristian Pawlu
Department of Nephrology and Hypertension, , Freiburg, Germany
Fam Cancer 4:49-54. 2005..As routine diagnostic procedure all SDH mutation carriers should have urine catecholamine analysis as well as pelvic, abdominal, thoracic and skull/neck MRI... - Familial pheochromocytomaZoran Erlic
Section for Preventive Medicine, Department of Nephrology and General Medicine, University Medical Center, Albert Ludwigs University of Freiburg, Freiburg, Germany
Hormones (Athens) 8:29-38. 2009..No specific treatment has been proposed for prevention of the disease in inherited disorders. Thus, early diagnosis and regular follow-up are the only means for a better outcome... - When should genetic testing be obtained in a patient with phaeochromocytoma or paraganglioma?Zoran Erlic
Department of Nephrology, Section for Preventive Medicine, University Medical Hospital, Freiburg, Germany
Clin Endocrinol (Oxf) 70:354-7. 2009..Collaboration with referral centres and research groups in this field can help to coordinate the management of these patients... - The approach to the patient with paragangliomaHartmut P H Neumann
Department of Nephrology and General Medicine, Section of Preventive Medicine, Albert Ludwigs University of Freiburg, Hugstetter Strasse 55, Freiburg, Germany
J Clin Endocrinol Metab 94:2677-83. 2009..Adrenal and extraadrenal retroperitoneal tumors should be operated by surgeons highly experienced in minimal invasive, endoscopic techniques... - Fluorine-18 DOPA PET imaging of paraganglioma syndromeIngo Brink
Department of Radiology, Albert Ludwigs University, Freiburg, Germany
Clin Nucl Med 31:39-41. 2006..The patient carries a mutation of the gene Succinate dehydrogenasis subunits D (SDHD) and is thus classified with the paraganglioma syndrome type 1... - Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomasB U Bender
Department of Internal Medicine, Division of Nephrology and Hypertension, Albert Ludwigs University of Freiburg, 79106 Freiburg, Germany
J Clin Endocrinol Metab 85:4568-74. 2000..VHL pheochromocytoma genesis are distinct... - [Diagnosis and management of cervical paragangliomas: the Freiburg experience]C C Boedeker
Universitätsklinik für Hals, Nasen und Ohrenheilkunde und Poliklinik, Freiburg
Laryngorhinootologie 83:585-92. 2004..They are highly vascular neoplasms that are benign in the majority of cases. There are controversial discussions concerning the different treatment options for cervical paragangliomas... - When to look for Von Hippel-Lindau disease in gastroenteropancreatic neuroendocrine tumors?Hao Ling
Department of Nephrology and Hypertension, Albert Ludwigs Universitat, Freiburg, Germany
Neuroendocrinology 80:39-46. 2004..Gadolinium-enhanced MRI is currently the imaging method of choice, but contrast-enhanced CT is also a diagnostic option. The spectrum of manifestations is illustrated by selected cases... - Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effortBirke Bausch
Department of Nephrology, Albert-Ludwigs-University, Freiburg, Germany
Ann N Y Acad Sci 1073:122-37. 2006..We differentiated distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. Finally, we identified predictors and prevalence of paraganglioma syndromes associated with mutations of the SDHC gene... - Paragangliomas in patients with mutations of the SDHD geneCarsten Christof Boedeker
Department of Otorhinolaryngology Head and Neck Surgery, University of Freiburg, Germany
Otolaryngol Head Neck Surg 132:467-70. 2005..We previously described a group of 271 pheochromocytoma patients, 11 of whom had mutations of the SDHD gene. The objective of this study was to find out whether those 11 patients had additional paragangliomas... - Surgical treatment of hemangioblastomas of the central nervous system in pediatric patientsVassilios I Vougioukas
Department of Neurosurgery, Neurocenter, Albert Ludwigs University of Freiburg, Breisacherstrasse 64, 79106 Freiburg im Breisgau, Germany
Childs Nerv Syst 22:1149-53. 2006..This study aims to outline the neurosurgical treatment options and to address the ongoing debate of surgical timing in pediatric patients with VHL... - Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutationsHartmut P H Neumann
Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
JAMA 292:943-51. 2004..In both syndromes, pheochromocytomas as well as head and neck paragangliomas occur; however, details for individual risks and other clinical characteristics are unknown... - 18F-DOPA positron emission tomography for the detection of glomus tumoursStefan Hoegerle
Department of Radiology, Albert-Ludwigs University, Freiburg, Germany
Eur J Nucl Med Mol Imaging 30:689-94. 2003..5+/-0.5 cm. (18)F-DOPA PET seems to be a highly sensitive metabolic imaging procedure for the detection of glomus tumours and may have potential as a screening method for glomus tumours in patients with SDHD gene mutations... - Malignant head and neck paragangliomas in SDHB mutation carriersCarsten Christof Boedeker
Department of Otorhinolaryngology Head and Neck Surgery, University of Freiburg, Freiburg, Germany
Otolaryngol Head Neck Surg 137:126-9. 2007..The objective of this study was to investigate whether PGLs are associated with malignant head and neck paragangliomas (HNPs)... - Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau diseaseVera Van Velthoven
Department of Neurosurgery, Albert Ludwigs University, Freiburg, Germany
Neurosurgery 53:1306-13; discussion 1313-4. 2003.... - Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneysMarkus Cybulla
Department of Neprology, University Hospital of Freiburg Institute of Pathology, Albert Ludwigs University, Freiburg, Germany
Am J Kidney Dis 45:e82-9. 2005..We conclude that familial chronic renal failure combined with proteinuria is suggestive of Fabry disease, and such specific mutations as E66K predominantly may affect the kidneys... - Pheochromocytomas: detection with 18F DOPA whole body PET--initial resultsStefan Hoegerle
Divisions of Nuclear Medicine, Department of Radiology, Albert Ludwigs University, Freiburg, Germany
Radiology 222:507-12. 2002..To evaluate fluorine 18 ((18)F) dihydroxyphenylalanine (DOPA) whole-body positron emission tomography (PET) as a biochemical imaging approach for detection of pheochromocytomas... - Dynamic contrast enhancement of paragangliomas of the head and neck: evaluation with time-resolved 2D MR projection angiographySebastian M Arnold
Department of Neuroradiology, University of Freiburg, 79106 Freiburg, Germany
Eur Radiol 13:1608-11. 2003..The characteristic contrast enhancement of glomus tumors can be helpful in the diagnostic workup of lesions that may mimic glomus tumors... - Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-outHartmut P H Neumann
Department of Nephrology, Section of Preventive Medicine, Albert Ludwigs University, Freiburg, Germany
Cancer Res 69:3650-6. 2009..Our data give evidence that clinical parameters can predict for mutation and help prioritize gene testing to reduce costs in HNP. Such strategy is cost-saving in the practice of genetics-based personalized health care... - [Fabry disease: demographic data since introduction of enzyme replacement therapy]M Cybulla
Medizinische Klinik, Abteilung für Nephrologie, Albert Ludwigs Universitat, Freiburg, Germany
Dtsch Med Wochenschr 132:1505-9. 2007..Since 2001, enzyme replacement has become available as an option in the causal treatment. It was the aim of this study to analyse the demography and clinical expression of the disease... - Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assayDetlef Boehm
Department of Nephrology and Hypertension Medicine, Medical Clinic, Albert Ludwig University, Freiburg, Germany
Am J Kidney Dis 49:e11-21. 2007..Despite this maximal genetic defect, the typical signs of TSC, mental retardation and seizures, can be absent... - Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patientsGerlind Franke
Department of Nephrology, University Medical Center Freiburg, Freiburg, Germany
Hum Mutat 30:776-86. 2009.... - Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndromeMaren Sullivan
Department of Nephrology, University Medical Center, Albert Ludwigs University, Freiburg, Germany
Ann Hum Genet 74:17-26. 2010..Occurrence of homo- and heterozygous mutations in the same gene suggests that the number of necessary DNA variants remains unclear. Among clinical information only familial occurrence predicts a mutation... - Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locusH P Neumann
Department of Medicine, Albert Ludwigs Universitat, Freiburg, Germany
Lancet 337:1052-4. 1991..The data point to a linear sequence of features as follows: phaeochromocytoma, angiomatosis retinae, haemangioblastoma of the CNS, renal lesions, pancreatic cysts, and epididymal cystadenoma... - A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiencyBernhard U Bender
Department of Nephrology, University Hospital Freiburg, Freiburg, Germany
Clin Chem Lab Med 45:483-6. 2007..Patients with FLD and fish-eye disease frequently present with corneal opacity, anemia and renal failure with proteinuria... - Thirty-four novel mutations of the GLA gene in 121 patients with Fabry diseaseEllen Schäfer
Institute of Human Genetics, University Hospital Eppendorf, Hamburg, Germany
Hum Mutat 25:412. 2005..6%), deletions (17.8%) or insertions/duplications (5.6%) of a few nucleotides, and complex rearrangements including larger deletions (2.2%). GLA mutations were identified in 82 (97.6%) of the 84 unrelated male patients... - Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paragangliomaSakari Vanharanta
Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
Am J Hum Genet 74:153-9. 2004..All RCCs showed loss of the remaining wild-type allele. Our observations suggest that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance... - Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onsetSarah R McWhinney
Department of Molecular Genetics, The Ohio State University, Columbus, Ohio 43210, USA
J Clin Endocrinol Metab 88:4911-6. 2003..016), our observations suggest the presence of a low-penetrance pheochromocytoma susceptibility locus in a region upstream of the putative loci for HSCR and apparently sporadic MTC... - Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel-Lindau disease in childhoodJan M Langrehr
Department for General, Visceral and Transplantation Surgery, Charite, Campus Virchow Clinic, 13353 Berlin, Germany
J Pediatr Surg 42:1291-4. 2007..This is the first report on the combination of a neuroendocrine pancreatic tumor with adrenal pheochromocytoma in a pediatric patient with von Hippel-Lindau (VHL) disease... - Evidence of MEN-2 in the original description of classic pheochromocytomaHartmut P H Neumann
Department of Nephrology, University of Freiburg Medical Center, Freiburg im Breisgau, Germany
N Engl J Med 357:1311-5. 2007..The presence of germ-line RET mutations in four living relatives demonstrates that the original patient and her family had multiple endocrine neoplasia type 2 and provides molecular evidence that she had pheochromocytoma... - Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutationMariola Peczkowska
Department of Hypertension at the Institute of Cardiology, Warsaw, Poland
Nat Clin Pract Endocrinol Metab 4:111-5. 2008..The patient's 68-year-old mother had a history of a carotid body tumor, which had been resected when she was 34 years old. She was diagnosed with a meningioma at 54 years of age and a jugular paraganglioma at 68 years of age... - Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction?Hartmut P H Neumann
J Clin Endocrinol Metab 93:1573-5. 2008 - Malignant pheochromocytoma associated with germline mutation of the SDHB geneZishan Allibhai
Division of Radiation Oncology, London Regional Cancer Centre and University of Western Ontario, London, Ontario, Canada
J Urol 172:1409-10. 2004 - A sporadic case of von Hippel-Lindau disease with a secondary maculopathy as the presenting signKlaus-Martin Kreusel
Augenklinik Berlin-Marzahn, Berlin, Germany
Acta Ophthalmol Scand 81:309-10. 2003 - Imaging vs biochemical testing for pheochromocytomaHartmut P H Neumann
JAMA 288:314-5; author reply 315. 2002 - Endoscopic treatment of solitary, bilateral, multiple, and recurrent pheochromocytomas and paragangliomasMartin K Walz
Klinik für Chirurgie und Zentrum für Minimal Invasive Chirurgie, Kliniken Essen Mitte, Akademisches Lehrkrankenhaus der Universität Essen, Henricistrasse 92, Germany
World J Surg 26:1005-12. 2002..Endoscopic removal of solitary, bilateral, multiple, and recurrent pheochromocytomas and retroperitoneal paragangliomas is feasible and safe but requires extensive experience in minimally invasive and endocrine surgery... - Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau genePeter Reichardt
Intensive Care Unit, Children s Hospital of the University of Leipzig, Germany
J Pediatr Hematol Oncol 24:145-8. 2002..Molecular genetics aid in the clinical decision-making and clinical management of individual patients with pheochromocytoma... - Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC geneFrancesca Schiavi
Department of Endocrinology, University of Padova, Padova, Italy
JAMA 294:2057-63. 2005..Head and neck paragangliomas associated with SDHC mutations are virtually exclusively benign and seldom multifocal. Analysis for germline mutations of SDHC is recommended in apparently sporadic HNP to identify risk of inheritance... - Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1Birke Bausch
Department of Neurology, University Medical Center Freiburg, Germany
J Clin Endocrinol Metab 92:2784-92. 2007..Because of the low prevalence of pheochromocytoma in NF1, we ascertained subjects by pheochromocytoma that also had NF1 in the hope of describing the germline NF1 mutational spectra of NF1-related pheochromocytoma... - Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytomaBirke Bausch
N Engl J Med 354:2729-31. 2006 - Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytomaBirke Bausch
, Hugstetter Strasse 55, D 79106 Freiburg, Germany
J Clin Endocrinol Metab 91:3478-81. 2006.... 
Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinomaChristian A Koch
Division of Endocrinology and Nephrology, University of Leipzig, Philipp Rosenthalstr, 27, 04103 Leipzig, Germany
BMC Cancer 6:131. 2006..Somatic VHL gene alterations are implicated in the pathogenesis of MEN2 pheochromocytomas. We hypothesized that somatic VHL gene alterations are also important in the pathogenesis of MEN2-associated MTC...- Von Hippel-Lindau disease--a rare disease important to recognizeMarkus Joerger
Department of Medical Oncology, Antoni van Leeuwenhoek Hospital / The Netherlands Cancer Institute, Amsterdam, The Netherlands
Onkologie 28:159-63. 2005..We therefore shortly illustrate the spectrum of clinical phenotypes and the VHL screening and surveillance guidelines... - Pheochromocytoma of the urinary bladder coexisting with another extra-adrenal tumour--case report of a 19-year-old male patientMariola Peczkowska
Department of Hypertension, Institute of Cardiology, Warsaw, Poland
Blood Press 11:101-5. 2002 - Pars plana vitrectomy for juxtapapillary capillary retinal angiomaKlaus Martin Kreusel
Augenklinik, Charite Universitatsmedizin Berlin, Campus Benjamin Franklin, Gurnemanzpfad 93, 13465 Berlin, Germany
Am J Ophthalmol 141:587-9. 2006..To describe the treatment of juxtapapillary capillary angioma by pars plana vitrectomy (PPV) and tumor excision... - Laparoscopic and retroperitoneoscopic treatment of pheochromocytomas and retroperitoneal paragangliomas: results of 161 tumors in 126 patientsMartin K Walz
Klinik für Chirurgie und Zentrum für Minimal Invasive Chirurgie, Kliniken Essen Mitte, Akademisches Lehrkrankenhaus der Universität Duisburg Essen, Henricistrasse 92, Essen, D 45136, Germany
World J Surg 30:899-908. 2006.... - Laparoscopic adrenal surgery for recurrent tumours in patients with hereditary phaeochromocytomaThiagarajan Nambirajan
Department of Urology, Elisabethinen Hospital, Linz, Austria
Eur Urol 47:622-6. 2005..To report our experience with Laparoscopic Partial Adrenalectomy (LPA) for recurrent tumours in patients with hereditary phaeochromocytoma... - Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domainsMatthias T F Wolf
Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan 48109, USA
Kidney Int 64:1580-7. 2003..In contrast, recently, another group described mutations in the UMOD gene as responsible for MCKD2 and familial juvenile hyperuricemic nephropathy (FJHN)... - Retinal angiomatosis in von Hippel-Lindau disease: a longitudinal ophthalmologic studyKlaus Martin Kreusel
Augen Zentrum, DRK Kliniken Westend, Berlin, Germany
Ophthalmology 113:1418-24. 2006..To characterize the clinical course of retinal angiomatosis (RA) in von Hippel-Lindau (VHL) disease... - Pheochromocytoma: presentation, diagnosis and treatmentNicole Reisch
Medizinische Klinik Innenstadt, Ludwig Maximilians University, Munich, Germany
J Hypertens 24:2331-9. 2006..This review provides an update on identification and management of pheochromocytomas, emphasizing current developments in diagnosis, including genetic testing, pathophysiology and treatment of pheochromocytomas... - Partial versus total adrenalectomy by the posterior retroperitoneoscopic approach: early and long-term results of 325 consecutive procedures in primary adrenal neoplasiasMartin K Walz
, Kliniken Essen-Mitte, , Henricistrasse 92, D-45136 Essen, Germany
World J Surg 28:1323-9. 2004..Our data demonstrate that partial adrenalectomy is a safe procedure not only perioperatively but also in the long-term follow-up... - Malignant pheochromocytoma: current status and initiatives for future progressGraeme Eisenhofer
National Institutes of Health, Bethesda, Maryland 20892 1620, USA
Endocr Relat Cancer 11:423-36. 2004..Again the success of this will require well-designed and coordinated multi-center studies... - Solitary juxtapapillary capillary retinal angioma and von Hippel-Lindau diseaseKlaus Martin Kreusel
Eye Centre, DRK Hospital Westend, Berlin, Germany
Can J Ophthalmol 42:251-5. 2007..The aim of this study was to evaluate patients with solitary juxtapapillary capillary retinal angioma for the presence of von Hippel-Lindau disease (VHL)... - Clinical and histological presentation of 3 siblings with mutations in the NPHP4 geneJulia Hoefele
Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA
Am J Kidney Dis 43:358-64. 2004..Progression to end-stage renal disease occurred between the ages of 17 and 22 years. None of the renal transplants showed recurrence of the disease. Retinitis pigmentosa was absent in all affected family members...