Search Results - "Zewald, R A"

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients by LETTEBOER, T. G. W, ZEWALD, R. A, KAMPING, E. J, DE HAAS, G, MAGER, J. J, SNIJDER, R. J, LINDHOUT, D, HENNEKAM, F. A. M, WESTERMANN, C. J. J, PLOOS VAN AMSTEL, J. K

“…Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is an autosomal dominant disorder characterized by an aberrant vascular development…”
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Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification by Hes, FJ, van der Luijt, RB, Janssen, ALW, Zewald, RA, de Jong, GJ, Lenders, JW, Links, TP, Luyten, GPM, Sijmons, RH, Eussen, HJ, Halley, DJJ, Lips, CJM, Pearson, PL, van den Ouweland, AMW, Majoor-Krakauer, DF

“…The current clinical diagnosis of Von Hippel‐Lindau (VHL) disease demands at least one specific a sporadic VHL manifestation in a patient with familial VHL…”
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Clinical Screening as Compared with DNA Analysis in Families with Multiple Endocrine Neoplasia Type 2A by Lips, Cornelis, Landsvater, Rudy M, Hoppener, Jo, Geerdink, Rolf A, Blijham, Geert, van Veen, Joke M. Jansen-Schillhorn, van Gils, Adriaan, de Wit, Mireille J, Zewald, Richard A, Berends, Marianne, Beemer, Frits A, Brouwers-Smalbraak, Joanneke, Jansen, Rumo, van Amstel, Hans Kristian Ploos, van Vroonhoven, Theo, Vroom, Thea M

“…Multiple endocrine neoplasia type 2A (MEN-2A) is an inherited disease characterized by medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenoma 1…”
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Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only by Hes, F J, McKee, S, Taphoorn, M J B, Rehal, P, van der Luijt, R B, McMahon, R, van der Smagt, J J, Dow, D, Zewald, R A, Whittaker, J, Lips, C J M, MacDonald, F, Pearson, P L, Maher, E R

“…OBJECTIVES Central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB…”
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Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients by GOUW, S. C., VAN DER BOM, J. G., VAN DEN BERG, H. M., ZEWALD, R. A., PLOOS VAN AMSTEL, J. K., MAUSER-BUNSCHOTEN, E. P.

“…The development of neutralizing antibodies against factor VIII (FVIII) is a major complication of treatment with FVIII in patients with severe haemophilia A…”
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Management of renal cell carcinoma in von Hippel-Lindau disease by HES, F. J, SLOOTWEG, P. J, VAN VROONHOVEN, T. J. M. V, HENE, R. J, FELDBERG, M. A. M, ZEWALD, R. A, VAN AMSTEL, J. K. P, HÖPPENER, J. W. M, PEARSON, P. L, LIPS, C. J. M

“…Background An evaluation of nephron‐sparing surgery (NSS) or radical nephrectomy (RN) for treating renal cell carcinoma (RCC) in patients with von…”
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Somatic mutations of the RET proto-oncogene are not required for tumor development in multiple endocrine neoplasia type 2 (MEN 2) gene carriers by LANDSVATER, R. M, DE WIT, M. J, ZEWALD, R. A, HOFSTRA, R. M. W, BUYS, C. H. C. M, PLOOS VAN AMSTEL, H.-K, HÖPPENER, J. W. M, LIPS, C. J. M

“…Germ line mutations in one allele of the RET proto-oncogene predispose to the multiple endocrine neoplasia type 2 (MEN 2) syndromes. To investigate whether…”
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Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study by GILTAY, Jacques C, AUSEMS, Margreet G. E. M, VAN SEUMEREN, Ineke, ZEWALD, Richard A, SINKE, Richard J, FAAS, Brigit, DE VROEDE, Monique

“…A 13-year-old phenotypically female patient presented with short stature (height SDS -2.6), but without any Turner stigmata or other dysmorphic features…”
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Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients: F8 GENOTYPE AND INHIBITOR DEVELOPMENT by GOUW, S. C., VAN DER BOM, J. G., VAN DEN BERG, H. M., ZEWALD, R. A., PLOOS VAN AMSTEL, J. K., MAUSER-BUNSCHOTEN, E. P.

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Short Report: Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification by Hes, F J, RB van der Luijt, Janssen, ALW, Zewald, R A, GJ de Jong, Lenders, J W, Links, T P, Luyten, GPM, Sijmons, R H, Eussen, HJ, Halley, DJJ, Lips, CJM, Pearson, P L, AMW van den Ouweland, Majoor-Krakauer, D F

“…The current clinical diagnosis of Von Hippel-Lindau (VHL) disease demands at least one specific a sporadic VHL manifestation in a patient with familial VHL…”
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