Hartmut P H Neumann

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. 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
  2. pmc Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease
    Hartmut P H Neumann
    Department of Nephrology, Section of Preventive Medicine, Albert Ludwig University, Germany
    Cerebrovasc Dis Extra 2:71-9. 2012
  3. pmc Head and neck paragangliomas: clinical and molecular genetic classification
    Christian Offergeld
    Department of Otorhinolaryngology, University Medical Center, Albert Ludwigs University, Freiburg, Germany
    Clinics (Sao Paulo) 67:19-28. 2012
  4. doi request reprint Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany
    Hartmut P H Neumann
    Department of Nephrology and General Medicine, Medical University Center, Albert Ludwigs University, Freiburg, Germany
    Nephrol Dial Transplant 28:1472-87. 2013
  5. doi request reprint Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes
    Hartmut P H Neumann
    Department of Nephrology, Section of Preventive Medicine, Albert Ludwigs University, Freiburg, Germany
    Int Urol Nephrol 44:1753-62. 2012
  6. pmc Optimized high gradient magnetic separation for isolation of Plasmodium-infected red blood cells
    Sebastian C Bhakdi
    Department of Pathobiology, Faculty of Science, Mahidol University, Bangkok, Thailand
    Malar J 9:38. 2010
  7. ncbi request reprint [Von Hippel-Lindau disease. Interdisciplinary patient care]
    H P H Neumann
    Abt für Nephrologie, Albert Ludwigs Universitat, Hugstetter Stasse 55, 79106, Freiburg, Germany
    Ophthalmologe 104:119-26. 2007
  8. 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
  9. 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
  10. ncbi request reprint Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites
    Hartmut P H Neumann
    Department of Nephrology and General Medicine, University Medical Center, Albert Ludwigs University, Freiburg, Germany
    J Clin Endocrinol Metab 96:E1279-82. 2011

Detail Information

Publications80

  1. 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...
  2. pmc Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease
    Hartmut P H Neumann
    Department of Nephrology, Section of Preventive Medicine, Albert Ludwig University, Germany
    Cerebrovasc Dis Extra 2:71-9. 2012
    ..Current guidelines do not suggest surveillance of IAs in ADPKD except in the setting of family history if IA was known in any relative with ADPKD. Management of IAs in ADPKD is problematic because limited data exist from large studies...
  3. pmc Head and neck paragangliomas: clinical and molecular genetic classification
    Christian Offergeld
    Department of Otorhinolaryngology, University Medical Center, Albert Ludwigs University, Freiburg, Germany
    Clinics (Sao Paulo) 67:19-28. 2012
    ..Slow growth and the tendency of hereditary head and neck paragangliomas to be multifocal may justify less aggressive treatment strategies...
  4. doi request reprint Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany
    Hartmut P H Neumann
    Department of Nephrology and General Medicine, Medical University Center, Albert Ludwigs University, Freiburg, Germany
    Nephrol Dial Transplant 28:1472-87. 2013
    ..Germline-mutation screening of susceptibility genes PKD1 and PKD2 was offered. Official population data for 2010 were used for overall and kidney function-adjusted prevalence estimations...
  5. doi request reprint Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes
    Hartmut P H Neumann
    Department of Nephrology, Section of Preventive Medicine, Albert Ludwigs University, Freiburg, Germany
    Int Urol Nephrol 44:1753-62. 2012
    ..The aim of this study was to evaluate whether germline mutation analysis adds substantial information to clinical symptoms for diagnosis of ADPKD in these patients...
  6. pmc Optimized high gradient magnetic separation for isolation of Plasmodium-infected red blood cells
    Sebastian C Bhakdi
    Department of Pathobiology, Faculty of Science, Mahidol University, Bangkok, Thailand
    Malar J 9:38. 2010
    ..This study presents a new approach to both HGMS concentration and depletion in malaria research, rendering polymer coating unnecessary...
  7. ncbi request reprint [Von Hippel-Lindau disease. Interdisciplinary patient care]
    H P H Neumann
    Abt für Nephrologie, Albert Ludwigs Universitat, Hugstetter Stasse 55, 79106, Freiburg, Germany
    Ophthalmologe 104:119-26. 2007
    ..A well structured screening program should be performed at yearly intervals...
  8. 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...
  9. 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...
  10. ncbi request reprint Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites
    Hartmut P H Neumann
    Department of Nephrology and General Medicine, University Medical Center, Albert Ludwigs University, Freiburg, Germany
    J Clin Endocrinol Metab 96:E1279-82. 2011
    ..Patients with TMEM127 mutations have been thus far exclusively identified with adrenal tumors...
  11. 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...
  12. 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...
  13. 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...
  14. 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...
  15. 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...
  16. doi request reprint Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma
    Alexander Weber
    Department of Nephrology, University Hospital Freiburg, 79100 Freiburg, Germany
    Horm Cancer 3:187-92. 2012
    ..SDHB and VHL somatic mutation might play a role in the sporadic forms of tumor development. There is no clinical impact of mutation screening or LOH analysis of tumor specimens...
  17. 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)...
  18. doi request reprint Age-related penetrance of hereditary atypical hemolytic uremic syndrome
    Maren Sullivan
    Department of Nephrology, Section of Preventive Medicine, University Medical Center, Albert Ludwigs University, Freiburg, Germany
    Ann Hum Genet 75:639-47. 2011
    ..001) in CFH mutation carriers and 21% vs. 70% (P= 0.003) in CD46 mutation carriers. Age-adjusted penetrance for hereditary aHUS is important to understand the disease, and if replicated in the future, for genetic counselling...
  19. 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...
  20. 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...
  21. ncbi 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...
  22. doi request reprint Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3
    Angelica Malinoc
    Department of Nephrology and General Medicine Pathology, University Medical Center, Albert Ludwigs University, Freiburg, Germany
    Endocr Relat Cancer 19:283-90. 2012
    ..Our findings suggest that RCC is a component of PGL3. Biallelic inactivation of the SDHC gene may represent a new pathway of pathogenesis of syndromic and nonsyndromic RCC, perhaps of both clear cell and papillary histologies...
  23. 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...
  24. 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
    ....
  25. ncbi request reprint Renal cancer in von Hippel-Lindau disease and related syndromes
    Birke Bausch
    Department of Gastroenterology, Hepatology, Endocrinology and Infectious Diseases, University Hospital, Hugstetter Strasse 55, D 79106 Freiburg, Germany
    Nat Rev Nephrol 9:529-38. 2013
    ....
  26. ncbi 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...
  27. 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...
  28. doi request reprint Systematic comparison of sporadic and syndromic pancreatic islet cell tumors
    Zoran Erlic
    Department of Nephrology, Albert Ludwigs University, Freiburg, Germany
    Endocr Relat Cancer 17:875-83. 2010
    ..Patients with NETs should not be subjected to genetic testing of the VHL gene, unless they have multifocal ICTs, other VHL-associated tumors, and/or a family history for VHL...
  29. doi request reprint Autosomal dominant polycystic kidney disease: prevalence of renal neoplasias in surgical kidney specimens
    Cordula A Jilg
    Department of Nephrology, Section of Preventive Medicine, Albert Ludwigs University, Freiburg, Germany
    Nephron Clin Pract 123:13-21. 2013
    ..Data on prevalence of RCC in ADPKD are limited, especially on a large population scale. The aim of this study was to analyze the prevalence of RCC in ADPKD kidneys and characterize the clinical features of this coincidence...
  30. doi request reprint Hemangioblastomas and neurogenic polyglobulia
    Sven Glasker
    Department of Neurosurgery, Freiburg University Medical Center, Freiburg, Germany
    Neurosurgery 72:930-5; discussion 935. 2013
    ..Neurogenic polyglobulia occurs with central nervous system hemangioblastomas. Among the suggested mechanisms are extramedullary hematopoiesis in the tumor tissue and germline mutations of the von Hippel-Lindau (VHL) tumor suppressor gene...
  31. 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...
  32. 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...
  33. 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
    ....
  34. 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...
  35. pmc Clinical features of paraganglioma syndromes
    Carsten Christof Boedeker
    Department of Otorhinolaryngology Head and Neck Surgery, University of Freiburg, Freiburg, Germany
    Skull Base 19:17-25. 2009
    ..Mutation carriers must be screened for paraganglial tumors in the head, neck, thorax, and abdomen. Appropriately timed surgical intervention will minimize disease-specific morbidity and mortality. Lifelong follow-up is mandatory...
  36. doi request reprint Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysms
    Jan Helge Klingler
    Department of Neurosurgery, Freiburg University Medical Center, Freiburg, Germany
    J Stroke Cerebrovasc Dis 22:437-43. 2013
    ..292T > C (p.Tyr98His) in the VHL tumor suppressor gene. This study investigates whether the VHL gene is a possible candidate gene for aneurysm formation...
  37. ncbi request reprint Correlation of the genotype of paragangliomas and pheochromocytomas with their metabolic phenotype on 3,4-dihydroxy-6-18F-fluoro-L-phenylalanin PET
    H Christian Rischke
    Department of Nuclear Medicine, University of Freiburg, Freiburg, Germany
    J Nucl Med 53:1352-8. 2012
    ..Furthermore, we assessed whether the genotypes of pheochromocytomas and paragangliomas correlate with the uptake of (18)F-DOPA...
  38. doi request reprint Is there an optimal scan time for 6-[F-18]fluoro-L-DOPA PET in pheochromocytomas and paragangliomas?
    Michael Hentschel
    Departments of Radiation Oncology, University Hospital Freiburg, Freiburg, Germany
    Clin Nucl Med 37:e24-9. 2012
    ..To define the appropriate scan time for fluorine-18-labeled dihydroxyphenylalanine (F-18 DOPA) PET in oncological imaging of pheochromocytomas and paragangliomas...
  39. doi request reprint Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation
    Ioana N Milos
    Section of Preventive Medicine, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
    Endocr Relat Cancer 15:1035-41. 2008
    ..These data provide, for the first time, RET C634W-specific neoplastic risk and age-related penetrance profiles. The data may facilitate risk assessment and genetic counseling...
  40. 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...
  41. ncbi request reprint Doppler-sonographically guided resection of central nervous system hemangioblastomas
    Sven Glasker
    Department of Neurosurgery, Freiburg University Medical Center, Breisacherstrasse 64, Freiburg, Germany
    Neurosurgery 68:267-75; discussion 274-5. 2011
    ..Power Doppler flow sonography has been proven useful during surgical removal of other vascular lesions...
  42. 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...
  43. 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...
  44. ncbi request reprint Genetics of hereditary head and neck paragangliomas
    Carsten C Boedeker
    Department of Otorhinolaryngology Head and Neck Surgery, Albert Ludwigs University, Freiburg, Germany
    Head Neck 36:907-16. 2014
    ..The purpose of this study was to give an overview on hereditary syndromes associated with head and neck paragangliomas (HNPGs)...
  45. doi request reprint Long-term prognosis of patients with pediatric pheochromocytoma
    Birke Bausch
    2nd Department of Medicine, University of Freiburg, Freiburg, Germany Department of Surgery, University Hospital Schleswig Holstein, Campus Luebeck, Luebeck, Germany Department of Medicine, Familial Cancer Clinic and Oncoendocrinology, University of Padova, Padova, Italy Center for Endocrinological Investigations CEDIE, Hospital de Niños R Gutiérrez, Buenos Aires, Argentina Department of Surgery, Center of Minimally Invasive Surgery, Kliniken Essen Mitte, Essen, Germany Department of Hypertension, Institute of Cardiology, Warsaw, Poland Department of Endocrinology, University of Lorraine, Nancy, France Division of Pediatric Surgery, Department of Pediatrics, University Hospital of Padova, Padova, Italy Pediatric Oncology, Division of Hematology and Oncology, Department of Pediatrics, University Hospital of Padova, Padova, Italy Department of Endocrinology, University Medical Center, University of Duisburg and Essen, Essen, Germany Department of Pediatrics, Hospital Great Ormond Street, London, Sixth Hospital of Shanghai Jiaotong University
    Endocr Relat Cancer 21:17-25. 2014
    ..Based on these data, gene-adjusted, specific surveillance guidelines can help effective preventive medicine. ..
  46. 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
    ....
  47. doi request reprint Nephron sparing surgery in von Hippel-Lindau associated renal cell carcinoma; clinicopathological long-term follow-up
    C A Jilg
    Department of Urology, University of Freiburg, Hugstetter Straße 55, 79106, Freiburg, Germany
    Fam Cancer 11:387-94. 2012
    ..By following a strict surveillance protocol it is possible to support a 4.0 cm-threshold strategy for NSS, based on the assumption that delaying time to second NSS prevents patients from premature renal failure...
  48. 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...
  49. doi request reprint Laparoscopic organ-sparing resection of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors
    Laura von Dücker
    Department of Nephrology and General Medicine, University Medical Center, Albert Ludwigs University, Hugstetter Strasse 55, 79106 Freiburg, Germany
    World J Surg 35:563-7. 2011
    ..With VHL, about 10% of the patients exhibit PNETs by age 40 years. Metastatic potential is high if the tumors have grown to >3 cm in diameter. Optimal surgical treatment is still a challenge...
  50. 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...
  51. 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...
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  56. 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...
  57. 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...
  58. 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
  59. 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...
  60. 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)...
  61. 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
  62. 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...
  63. 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
  64. 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...
  65. 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
  66. 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
  67. ncbi request reprint Imaging vs biochemical testing for pheochromocytoma
    Hartmut P H Neumann
    JAMA 288:314-5; author reply 315. 2002
  68. 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...
  69. 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...
  70. 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...
  71. 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...
  72. 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...
  73. 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...
  74. 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...
  75. 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
    ....
  76. 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...
  77. 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...
  78. 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...
  79. 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)...
  80. 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...