Search Results - "Oyen, F."

Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami by Obser, T., Ledford‐Kraemer, M., Oyen, F., Brehm, M. A., Denis, C. V., Marschalek, R., Montgomery, R. R., Sadler, J. E., Schneppenheim, S., Budde, U., Schneppenheim, R.

“…Essentials Von Willebrand disease IIC Miami features high von Willebrand factor (VWF) with reduced function. We aimed to identify and characterize the elusive…”
Get full text

Glial papillary tumour of the spinal cord with SMARCB1/INI1‐loss and favourable long‐term outcome by Hasselblatt, M., Kurniawan, A. D., Rozsnoki, S., Johann, P. D., Bens, S., Oyen, F., Schneppenheim, R., Siebert, R., Capper, D., Kool, M., Schul, C., Paulus, W.

Get full text

Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease by Ahmad, F., Oyen, F., Jan, R., Budde, U., Schneppenheim, R., Saxena, R.

“…Summary Linkage analysis in autosomal inherited von Willebrand disease (VWD) is important to diagnose the carriers and reduce the burden of severe type VWD…”
Get full text

Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations by Jokela, V., Lassila, R., Szanto, T., Joutsi-Korhonen, L., Armstrong, E., Oyen, F., Schneppenheim, S., Schneppenheim, R.

“…Summary Severe von Willebrand's disease (VWD) type 3 is a rare autosomal‐recessively inherited bleeding disorder, showing considerable genotypic heterogeneity…”
Get full text

An Alu‐mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary by MOHL, A., MARSCHALEK, R., MASSZI, T., NAGY, E., OBSER, T., OYEN, F., SALLAI, K., BODÓ, I., SCHNEPPENHEIM, R.

“…Background: We studied 24 Hungarian patients from 23 unrelated families to identify the genetic background of the entire type 3 von Willebrand disease (VWD)…”
Get full text

A Modified Technique of Reconstruction for Complete Acromioclavicular Dislocation: A Prospective Study by Tienen, Tony G., Oyen, Jan F. C. H., Eggen, Peter J. G. M.

“…Background Many procedures, both nonoperative and operative, have been described for treatment of complete acromioclavicular dislocations. The best primary…”
Get full text

A common 253‐kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3 by SCHNEPPENHEIM, R., CASTAMAN, G., FEDERICI, A. B., KREUZ, W., MARSCHALEK, R., OLDENBURG, J., OYEN, F., BUDDE, U.

“…Background:  Severe von Willebrand disease (VWD) type 3 is caused by large deletions, insertions, small truncating mutations, splice site mutations and…”
Get full text

Gene conversions are a common cause of von Willebrand disease by Gupta, P. K., Adamtziki, E., Budde, U., Jaiprakash, M., Kumar, H., Harbeck‐Seu, A., Kannan, M., Oyen, F., Obser, T., Wedekind, I., Saxena, R., Schneppenheim, R.

“…Summary von Willebrand disease (VWD), the most common inherited bleeding disorder, is very heterogeneous, both in its phenotype and genotype. One particular…”
Get full text

Genetic defects in von Willebrand disease type 3 in Indian and Greek patients by Gupta, P.K., Saxena, R., Adamtziki, E., Budde, U., Oyen, F., Obser, T., Schneppenheim, R.

“…Von Willebrand disease type 3 VWD is an autosomal-recessively inherited severe bleeding disorder with a homogeneous phenotype on the basis of very…”
Get full text

Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population by MOHL, A., BODA, Z., JAGER, R., LOSONCZY, H., MAROSI, A., MASSZI, T., NAGY, E., NEMES, L., OBSER, T., OYEN, F., RADVÁNYI, G., SCHLAMMADINGER, Á., SZÉLESSY, ZS, VÁRKONYI, A., VEZENDY, K., VILIMI, B., SCHNEPPENHEIM, R., BODÓ, I.

“…Background: Type 3 von Willebrand disease (VWD) is an autosomal recessive bleeding disorder, characterized by virtually undetectable plasma von Willebrand…”
Get full text

The problem of novel FVIII missense mutations for haemophilia A genetic counseling by Schneppenheim, Reinhard, Schröder, J, Obser, T, Oyen, F, Schneppenheim, S, Oldenburg, J

“…Molecular genetic testing for factor VIII (FVIII) mutations is indicated in haemophilia A since determination of FVIII activity cannot reliably identify female…”
Get more information

Response to DDAVP in children with von Willebrand disease type 2 by Schneppenheim, Reinhard, Budde, U, Beutel, Karin, Hassenpflug, W-A, Hauch, H, Obser, T, Oyen, F, Schneppenheim, S, Schrum, J

“…We have prospectively evaluated the biologic response to desmopressin (DDAVP) in 28 children with type 2 von Willebrand disease (VWD) in correlation with the…”
Get more information

Thrombotic microangiopathy in a 17-year-old patient: TTP, HUS or a bit of both? by Gerth, J, Busch, M, Oyen, F, Schneppenheim, R, Keller, T, Budde, U, Groene, H-J, Wolf, G

“…Thrombotic microangiopathies are characterized by the development of hyaline thrombi in small vessels resulting in thrombocytopenia, microangiopathic…”
Get more information

Direct Radiation Effects to the Amino Acid Side Chain: EMR and Periodic DFT of X‑Irradiated l‑Asparagine at 6 K by Øyen, Live F, Aalbergsjø, Siv G, Knudtsen, Ingerid S, Hole, Eli O, Sagstuen, Einar

“…Radical formation in single crystals of l-asparagine monohydrate following X-irradiation at 6 K has been investigated at 6 K and at elevated temperatures using…”
Get full text

P061 Type 3 von Willebrand disease in Hungary: A partial large deletion is the most common genetic defect by Mohl, A, Boda, Z, Jager, R, Losonczy, H, Marosi, A, Masszi, T, Nagy, E, Nemes, L, Obser, T, Oyen, F, Radványi, G, Sallai, K, Schlammadinger, Á, Szélessy, Zs, Vezendy, K, Schneppenheim, R, Bodó, I

Get full text

Cribriform Neuroepithelial Tumor (CRINET): A Nonrhabdoid Ventricular Tumor With INI1 Loss and Relatively Favorable Prognosis by Hasselblatt, Martin, Oyen, Florian, Gesk, Stefan, Kordes, Uwe, Wrede, Brigitte, Bergmann, Markus, Schmid, Hansjörg, Frühwald, Michael C, Schneppenheim, Reinhard, Siebert, Reiner, Paulus, Werner

“…Atypical teratoid/rhabdoid tumors are malignant embryonal tumors characterized by the presence of rhabdoid cells, genetic alterations affecting the SMARCB1…”
Get full text

Glial papillary tumour of the spinal cord with SMARCB 1/ INI 1‐loss and favourable long‐term outcome by Hasselblatt, M., Kurniawan, A. D., Rozsnoki, S., Johann, P. D., Bens, S., Oyen, F., Schneppenheim, R., Siebert, R., Capper, D., Kool, M., Schul, C., Paulus, W.

Get full text

von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor by Brehm, M A, Huck, V, Aponte-Santamaría, C, Obser, T, Grässle, S, Oyen, F, Budde, U, Schneppenheim, S, Baldauf, C, Gräter, F, Schneider, S W, Schneppenheim, R

“…The bleeding disorder von Willebrand disease (VWD) is caused by mutations of von Willebrand factor (VWF), a multimeric glycoprotein essential for…”
Get more information

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP by SCHNEPPENHEIM, Reinhard, BUDDE, Ulrich, KURNIK, Karin, MUELLER-WIEFEL, Dirk, OBSER, Tobias, SANTER, René, SYKORA, Karl-Walter, OYEN, Florian, ANGERHAUS, Dorothea, AUMANN, Volker, DREWKE, Elke, HASSENPFLUG, Wolf, HÄBERLE, Johannes, KENTOUCHE, Karim, KOHNE, Elisabeth

“…Thrombotic thrombocytopenic purpura (TTP) is caused by the persistence of the highly reactive high-molecular-weight multimers of von Willebrand factor (VWF)…”
Get full text

Assessment of climate vulnerability in the Norwegian built environment by Hygen, H. O., Øyen, C. F., Almås, A. J.

“…The main trends expected for the change of Norwegian climate for this century are increasing temperatures, precipitation and wind. This indicates a probable…”
Get full text