H P Neumann

Summary

Affiliation: University of Freiburg
Country: Germany

Publications

  1. ncbi request reprint 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
  2. ncbi request reprint Germ-line mutations in nonsyndromic pheochromocytoma
    Hartmut P H Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
    N Engl J Med 346:1459-66. 2002
  3. ncbi request reprint New genetic causes of pheochromocytoma: current concepts and the clinical relevance
    Hartmut P H Neumann
    Department of Medicine, Albert Ludwigs University, Freiburg, Germany
    Keio J Med 54:15-21. 2005
  4. ncbi request reprint Preserved adrenocortical function after laparoscopic bilateral adrenal sparing surgery for hereditary pheochromocytoma
    H P Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
    J Clin Endocrinol Metab 84:2608-10. 1999
  5. ncbi request reprint Genotype-phenotype correlations in von Hippel-Lindau disease
    H P Neumann
    Department of Nephrology and Hypertension, University of Freiburg, Germany
    J Intern Med 243:541-5. 1998
  6. ncbi request reprint Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II
    H P Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University of Freiburg, Germany
    JAMA 274:1149-51. 1995
  7. pmc Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome
    Zoran Erlic
    Department of Nephrology, Section of Preventive Medicine, Albert Ludwigs University, Freiburg, D 79106 Freiburg, Germany
    J Clin Endocrinol Metab 95:308-13. 2010
  8. pmc VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality
    B U Bender
    Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
    J Med Genet 38:508-14. 2001
  9. pmc Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system
    S 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
  10. pmc Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2
    Carsten C Boedeker
    Department of Otorhinolaryngology, Albert Ludwigs University, Freiburg D 79106, Germany
    J Clin Endocrinol Metab 94:1938-44. 2009

Detail Information

Publications65

  1. ncbi request reprint 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...
  2. ncbi request reprint Germ-line mutations in nonsyndromic pheochromocytoma
    Hartmut P H Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
    N Engl J Med 346:1459-66. 2002
    ....
  3. ncbi request reprint New genetic causes of pheochromocytoma: current concepts and the clinical relevance
    Hartmut 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...
  4. ncbi request reprint Preserved adrenocortical function after laparoscopic bilateral adrenal sparing surgery for hereditary pheochromocytoma
    H 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...
  5. ncbi request reprint Genotype-phenotype correlations in von Hippel-Lindau disease
    H 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...
  6. ncbi request reprint Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II
    H P Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University of Freiburg, Germany
    JAMA 274:1149-51. 1995
    ....
  7. pmc Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome
    Zoran 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...
  8. pmc VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality
    B 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...
  9. pmc Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system
    S 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...
  10. pmc Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2
    Carsten 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...
  11. doi request reprint Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients
    Zoran 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...
  12. ncbi request reprint Mutations of the SDHB and SDHD genes
    Christian Pawlu
    Department of Nephrology and Hypertension, Albert Ludwigs Universitat, 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...
  13. ncbi request reprint Familial pheochromocytoma
    Zoran 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...
  14. doi request reprint 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...
  15. pmc The approach to the patient with paraganglioma
    Hartmut 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...
  16. ncbi request reprint Fluorine-18 DOPA PET imaging of paraganglioma syndrome
    Ingo 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...
  17. ncbi request reprint Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas
    B 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...
  18. ncbi request reprint [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...
  19. ncbi request reprint 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...
  20. ncbi request reprint Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effort
    Birke 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...
  21. ncbi request reprint Paragangliomas in patients with mutations of the SDHD gene
    Carsten 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...
  22. ncbi request reprint Surgical treatment of hemangioblastomas of the central nervous system in pediatric patients
    Vassilios 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...
  23. ncbi request reprint Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
    Hartmut 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...
  24. ncbi request reprint 18F-DOPA positron emission tomography for the detection of glomus tumours
    Stefan 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...
  25. ncbi request reprint Malignant head and neck paragangliomas in SDHB mutation carriers
    Carsten 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)...
  26. ncbi request reprint Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau disease
    Vera Van Velthoven
    Department of Neurosurgery, Albert Ludwigs University, Freiburg, Germany
    Neurosurgery 53:1306-13; discussion 1313-4. 2003
    ....
  27. ncbi request reprint Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys
    Markus 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...
  28. ncbi request reprint Pheochromocytomas: detection with 18F DOPA whole body PET--initial results
    Stefan 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...
  29. ncbi request reprint Dynamic contrast enhancement of paragangliomas of the head and neck: evaluation with time-resolved 2D MR projection angiography
    Sebastian 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...
  30. doi request reprint Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out
    Hartmut 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...
  31. ncbi request reprint [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...
  32. ncbi request reprint Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assay
    Detlef 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...
  33. doi request reprint Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients
    Gerlind Franke
    Department of Nephrology, University Medical Center Freiburg, Freiburg, Germany
    Hum Mutat 30:776-86. 2009
    ....
  34. doi request reprint Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome
    Maren 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...
  35. ncbi request reprint Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus
    H 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...
  36. ncbi request reprint A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency
    Bernhard 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...
  37. ncbi request reprint Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease
    Ellen 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...
  38. pmc Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
    Sakari 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...
  39. ncbi request reprint Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset
    Sarah 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...
  40. ncbi request reprint Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel-Lindau disease in childhood
    Jan 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...
  41. ncbi request reprint Evidence of MEN-2 in the original description of classic pheochromocytoma
    Hartmut 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...
  42. doi request reprint Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation
    Mariola 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...
  43. ncbi request reprint Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction?
    Hartmut P H Neumann
    J Clin Endocrinol Metab 93:1573-5. 2008
  44. ncbi request reprint Malignant pheochromocytoma associated with germline mutation of the SDHB gene
    Zishan Allibhai
    Division of Radiation Oncology, London Regional Cancer Centre and University of Western Ontario, London, Ontario, Canada
    J Urol 172:1409-10. 2004
  45. ncbi request reprint A sporadic case of von Hippel-Lindau disease with a secondary maculopathy as the presenting sign
    Klaus Martin Kreusel
    Augenklinik Berlin Marzahn, Berlin, Germany
    Acta Ophthalmol Scand 81:309-10. 2003
  46. ncbi request reprint Imaging vs biochemical testing for pheochromocytoma
    Hartmut P H Neumann
    JAMA 288:314-5; author reply 315. 2002
  47. ncbi request reprint Endoscopic treatment of solitary, bilateral, multiple, and recurrent pheochromocytomas and paragangliomas
    Martin 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...
  48. ncbi request reprint Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau gene
    Peter 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...
  49. ncbi request reprint Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
    Francesca Schiavi
    Department of Endocrinology, University of Padova, Padova, Italy
    JAMA 294:2057-63. 2005
    ..In contrast with those with germline mutations of the SDHB and SDHD genes, clinical and genetic data on patients with mutations of SDHC are scarce...
  50. ncbi request reprint Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1
    Birke 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...
  51. ncbi request reprint Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma
    Birke Bausch
    N Engl J Med 354:2729-31. 2006
  52. ncbi request reprint Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma
    Birke Bausch
    Medizinische Universitatsklinik, Hugstetter Strasse 55, D 79106 Freiburg, Germany
    J Clin Endocrinol Metab 91:3478-81. 2006
    ..The 57-exon susceptibility gene NF1 has so far not been systematically scanned for unexpected germline mutations in individuals with sporadic pheochromocytoma...
  53. pmc Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma
    Christian 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...
  54. ncbi request reprint Von Hippel-Lindau disease--a rare disease important to recognize
    Markus Joerger
    Department of Medical Oncology, Antoni van Leeuwenhoek Hospital The Netherlands Cancer Institute, Amsterdam, The Netherlands
    Onkologie 28:159-63. 2005
    ..Molecular analysis of the VHL gene is clinically available and indicated in patients with known or suspected VHL...
  55. ncbi request reprint Pheochromocytoma of the urinary bladder coexisting with another extra-adrenal tumour--case report of a 19-year-old male patient
    Mariola Peczkowska
    Department of Hypertension, Institute of Cardiology, Warsaw, Poland
    Blood Press 11:101-5. 2002
  56. ncbi request reprint Pars plana vitrectomy for juxtapapillary capillary retinal angioma
    Klaus 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...
  57. ncbi request reprint Laparoscopic and retroperitoneoscopic treatment of pheochromocytomas and retroperitoneal paragangliomas: results of 161 tumors in 126 patients
    Martin 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
    ....
  58. ncbi request reprint Laparoscopic adrenal surgery for recurrent tumours in patients with hereditary phaeochromocytoma
    Thiagarajan 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...
  59. ncbi request reprint Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains
    Matthias 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)...
  60. ncbi request reprint Retinal angiomatosis in von Hippel-Lindau disease: a longitudinal ophthalmologic study
    Klaus 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...
  61. ncbi request reprint Pheochromocytoma: presentation, diagnosis and treatment
    Nicole 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...
  62. ncbi request reprint Partial versus total adrenalectomy by the posterior retroperitoneoscopic approach: early and long-term results of 325 consecutive procedures in primary adrenal neoplasias
    Martin K Walz
    Klinik für Chirurgie und Zentrum für Minimal Invasive Chirurgie, Kliniken Essen Mitte, Akademisches Lehrkrankenhaus der Universität Essen, 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...
  63. ncbi request reprint Malignant pheochromocytoma: current status and initiatives for future progress
    Graeme 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...
  64. ncbi request reprint Solitary juxtapapillary capillary retinal angioma and von Hippel-Lindau disease
    Klaus 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)...
  65. ncbi request reprint Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene
    Julia 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...