Hartmut P H Neumann
Affiliation: University Hospital
Neumann H, Cybulla M, Glasker S, Coulin C, van Velthoven V, Berlis A, et al
. [Von Hippel-Lindau disease. Interdisciplinary patient care]. Ophthalmologe. 2007;104:119-26 pubmed
..A well structured screening program should be performed at yearly intervals. ..
Neumann H, Vortmeyer A, Schmidt D, Werner M, Erlic Z, Cascon A, et al
. Evidence of MEN-2 in the original description of classic pheochromocytoma. N Engl J Med. 2007;357:1311-5 pubmed
..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. ..
Neumann H, Eng C. The approach to the patient with paraganglioma. J Clin Endocrinol Metab. 2009;94:2677-83 pubmed publisher
..Adrenal and extraadrenal retroperitoneal tumors should be operated by surgeons highly experienced in minimal invasive, endoscopic techniques. ..
Neumann H, Sullivan M, Winter A, Malinoc A, Hoffmann M, Boedeker C, et al
. Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. J Clin Endocrinol Metab. 2011;96:E1279-82 pubmed publisher
..Patients with TMEM127 mutations have been thus far exclusively identified with adrenal tumors...
Neumann H, Bacher J, Nabulsi Z, Ortiz Brüchle N, Hoffmann M, Schaeffner E, et al
. Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes. Int Urol Nephrol. 2012;44:1753-62 pubmed publisher
..Molecular genetic screening for germline mutations in both PKD1 and PKD2 genes is essential for the definitive diagnosis of ADPKD. ..
Neumann H, Jilg C, Bacher J, Nabulsi Z, Malinoc A, Hummel B, et al
. Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. Nephrol Dial Transplant. 2013;28:1472-87 pubmed publisher
..7/100,000 reaching a maximum of 57.3/100,000 in the 6th decade of life. Prevalence of ADPKD is overestimated by 2- to 5-fold and close to the limit of RDs which may be of broad clinical, logistic and policy implications. ..