Search Results - "Mautner, Victor Felix"

Assessment of small fiber neuropathy in patients carrying the non‐classical Fabry variant p.D313Y by Cossel, Katharina, Muschol, Nicole, Friedrich, Reinhard E., Glatzel, Markus, Ammer, Luise, Lohmöller, Benjamin, Bendszus, Martin, Mautner, Victor‐Felix, Godel, Tim

“…Introduction The pathophysiological significance of the Fabry‐related, non‐classical variant p.D313Y still remains to be solved. This study assesses the…”
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Response to trametinib treatment in progressive pediatric low-grade glioma patients by Selt, Florian, van Tilburg, Cornelis M., Bison, Brigitte, Sievers, Philipp, Harting, Inga, Ecker, Jonas, Pajtler, Kristian W., Sahm, Felix, Bahr, Annabelle, Simon, Michèle, Jones, David T. W., Well, Lennart, Mautner, Victor-Felix, Capper, David, Hernáiz Driever, Pablo, Gnekow, Astrid, Pfister, Stefan M., Witt, Olaf, Milde, Till

“…Introduction A hallmark of pediatric low-grade glioma (pLGG) is aberrant signaling of the mitogen activated protein kinase (MAPK) pathway. Hence, inhibition of…”
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Asymmetry of thalamic hypometabolism on FDG‐PET/CT in neurofibromatosis type 1: Association with peripheral tumor burden by Özden, Cansu, Mautner, Victor‐Felix, Farschtschi, Said, Molwitz, Isabel, Ristow, Inka, Bannas, Peter, Well, Lennart, Klutmann, Susanne, Adam, Gerhard, Apostolova, Ivayla, Buchert, Ralph

“…Background and Purpose Thalamic hypometabolism is a consistent finding in brain PET with F‐18 fluorodeoxyglucose (FDG) in patients with neurofibromatosis type…”
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Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2 by Godel, Tim, Mautner, Victor‐Felix, Farschtschi, Said, Pham, Mirko, Schwarz, Daniel, Kronlage, Moritz, Gugel, Isabel, Heiland, Sabine, Bendszus, Martin, Bäumer, Philipp

“…Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in…”
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Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism by Kluwe, Lan, Friedrich, Reinhard E., Farschtschi, Said C., Hagel, Christian, Kehrer‐Sawatzki, Hildegard, Mautner, Victor‐Felix

“…We coincidently detected an atypical deletion of at least 1.3‐Mb, encompassing the NF1 tumor suppressor gene and several adjacent genes at an apparent…”
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Methylation-based classification of benign and malignant peripheral nerve sheath tumors by Röhrich, Manuel, Koelsche, Christian, Schrimpf, Daniel, Capper, David, Sahm, Felix, Kratz, Annekathrin, Reuss, Jana, Hovestadt, Volker, Jones, David T. W., Bewerunge-Hudler, Melanie, Becker, Albert, Weis, Joachim, Mawrin, Christian, Mittelbronn, Michel, Perry, Arie, Mautner, Victor-Felix, Mechtersheimer, Gunhild, Hartmann, Christian, Okuducu, Ali Fuat, Arp, Mirko, Seiz-Rosenhagen, Marcel, Hänggi, Daniel, Heim, Stefanie, Paulus, Werner, Schittenhelm, Jens, Ahmadi, Rezvan, Herold-Mende, Christel, Unterberg, Andreas, Pfister, Stefan M., von Deimling, Andreas, Reuss, David E.

“…The vast majority of peripheral nerve sheath tumors derive from the Schwann cell lineage and comprise diverse histological entities ranging from benign…”
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Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth by Well, Lennart, Döbel, Kimberly, Kluwe, Lan, Bannas, Peter, Farschtschi, Said, Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes

“…Neurofibromatosis type-1 (NF1) patients suffer from cutaneous and subcutaneous neurofibromas (CNF) and large plexiform neurofibromas (PNF). Whole gene…”
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Distinctive low epidermal nerve fiber density in schwannomatosis patients provides a major parameter for diagnosis and differential diagnosis by Farschtschi, Said C., Kluwe, Lan, Schön, Gerhard, Friedrich, Reinhard E., Matschke, Jakob, Glatzel, Markus, Weis, Joachim, Hagel, Christian, Mautner, Victor‐Felix

“…Schwannomatosis and neurofibromatosis type 2 (NF2) are two distinct neuro‐genetic tumor predisposition disorders, which, however, share some clinical and…”
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Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study by Depping, Miram K, Uhlenbusch, Natalie, von Kodolitsch, Yskert, Klose, Hans F E, Mautner, Victor-Felix, Löwe, Bernd

“…In the absence of a cure for the majority of rare diseases, the disease management aims to provide optimal supportive care. The goal of this study was to…”
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Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions by Summerer, Anna, Schäfer, Eleonora, Mautner, Victor-Felix, Messiaen, Ludwine, Cooper, David N., Kehrer-Sawatzki, Hildegard

“…Different types of large NF1 deletion are distinguishable by breakpoint location and potentially also by the frequency of mosaicism with normal cells lacking…”
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White matter is increased in the brains of adults with neurofibromatosis 1 by Wang, Su, Friedman, Jan M, Suppa, Per, Buchert, Ralph, Mautner, Victor-Felix

“…Neurofibromatosis 1 (NF1) is a rare autosomal dominant disease characterized by increased Schwann cell proliferation in peripheral nerves. Several small…”
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Upregulated immuno-modulator PD-L1 in malignant peripheral nerve sheath tumors provides a potential biomarker and a therapeutic target by Farschtschi, Said, Kluwe, Lan, Park, Su-Jin, Oh, Su-Jun, Mah, Nancy, Mautner, Victor-Felix, Kurtz, Andreas

“…Background Malignant peripheral nerve sheath tumors (MPNSTs) are rare aggressive sarcomas with poor prognosis. More than half of MPNSTs develop from benign…”
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Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI by Well, Lennart, Careddu, Anna, Stark, Maria, Farschtschi, Said, Bannas, Peter, Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes

“…Neurofibromatosis Type 1 (NF1) has been reported to be associated with a variety of spinal abnormalities. The purpose of this study was to quantify the…”
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Evidence for a low‐penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6 by Kordes, Uwe, Mautner, Victor‐Felix, Oyen, Florian, Hagel, Christian, Hartmann, Christian, Heuser, Michael, Frühwald, Michael, Hasselblatt, Martin, Oehl‐Huber, Kathrin, Siebert, Reiner, Schneppenheim, Reinhard, Schüller, Ulrich

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MRI based volumetric measurements of vestibular schwannomas in patients with neurofibromatosis type 2: comparison of three different software tools by Kollmann, Philipp, Mautner, Victor-Felix, Koeppen, Johannes, Wenzel, Ralph, Friedman, Jan M., Salamon, Johannes, Farschtschi, Said

“…Neurofibromatosis type 2 is a neurogenetic disorder with an incidence of about 1:33.000. Hallmarks are bilateral benign vestibular schwannomas, which can lead…”
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The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1 by LIDZBA, KAREN, GRANSTRÖM, SOFIA, LINDENAU, JORGE, MAUTNER, VICTOR-FELIX

“…Aim  A substantial proportion of patients with neurofibromatosis type 1 (NF1) have attention‐deficit disorder with or without hyperactivity (AD[H]D). This…”
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Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions by Kehrer-Sawatzki, Hildegard, Wahlländer, Ute, Cooper, David N, Mautner, Victor-Felix

“…Patients with neurofibromatosis type 1 (NF1) and type 1 deletions often exhibit more severe clinical manifestations than patients with intragenic gene…”
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Author Correction: Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI by Well, Lennart, Careddu, Anna, Stark, Maria, Farschtschi, Said, Bannas, Peter, Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes

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Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas by Kehrer-Sawatzki, Hildegard, Kluwe, Lan, Friedrich, Reinhard E., Summerer, Anna, Schäfer, Eleonora, Wahlländer, Ute, Matthies, Cordula, Gugel, Isabel, Farschtschi, Said, Hagel, Christian, Cooper, David N., Mautner, Victor-Felix

“…Schwannomatosis and neurofibromatosis type 2 (NF2) are both characterized by the development of multiple schwannomas but represent different genetic entities…”
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Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation by Frayling, Ian M, Mautner, Victor-Felix, van Minkelen, Rick, Kallionpaa, Roope A, Aktaş, Safiye, Baralle, Diana, Ben-Shachar, Shay, Callaway, Alison, Cox, Harriet, Eccles, Diana M, Ferkal, Salah, LaDuca, Holly, Lázaro, Conxi, Rogers, Mark T, Stuenkel, Aaron J, Summerour, Pia, Varan, Ali, Yap, Yoon Sim, Zehou, Ouidad, Peltonen, Juha, Evans, D Gareth, Wolkenstein, Pierre, Upadhyaya, Meena

“…Neurofibromatosis type 1 (NF1) predisposes to breast cancer (BC), but no genotype-phenotype correlations have been described. Constitutional mutations in 78…”
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