Zobrazeno 61 - 70
of 77
pro vyhledávání: '"Rosa Nguyen"'
Autor:
Victor-Felix Mautner, David Neil Cooper, Josef Högel, Lan Kluwe, Tanja Mußotter, Rosa Nguyen, Hildegard Kehrer-Sawatzki
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 13, Iss 1, p 98 (2012)
BMC Medical Genetics, Vol 13, Iss 1, p 98 (2012)
Background Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeleti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e56efb7db0f3a9476e038c9786cd291
https://orca.cardiff.ac.uk/id/eprint/84054/1/1471-2350-13-98.pdf
https://orca.cardiff.ac.uk/id/eprint/84054/1/1471-2350-13-98.pdf
Autor:
Lan Kluwe, Angelika C. Roehl, David Neil Cooper, Victor-Felix Mautner, Tanja Mußotter, Julia Vogt, Martin U. Schuhmann, Rosa Nguyen, Hildegard Kehrer-Sawatzki
Publikováno v:
Journal of Medical Case Reports
Journal of Medical Case Reports, Vol 5, Iss 1, p 577 (2011)
Journal of Medical Case Reports, Vol 5, Iss 1, p 577 (2011)
Introduction Large deletions of the NF1 gene and its flanking regions are frequently associated with a severe clinical manifestation. Different types of gross NF1 deletion have been identified that are distinguishable both by their size and the numbe
Autor:
Mateusz, Kolanczyk, Victor, Mautner, Nadine, Kossler, Rosa, Nguyen, Jirko, Kühnisch, Tomasz, Zemojtel, Aleksander, Jamsheer, Eike, Wegener, Boris, Thurisch, Sigrid, Tinschert, Nikola, Holtkamp, Su-Jin, Park, Patricia, Birch, David, Kendler, Anja, Harder, Stefan, Mundlos, Lan, Kluwe
Publikováno v:
BMC Medicine
Background Neurofibromatosis type 1 (NF1) is a frequent genetic disease characterized by multiple benign tumours with increased risk for malignancy. There is currently no biomarker for tumour load in NF1 patients. Methods In situ hybridization and qu
Autor:
Michael Kentsch, Lan Kluwe, Victor-Felix Mautner, Rosa Nguyen, Carsten Fuensterer, Reinhard E Friedrich
Publikováno v:
The Journal of pediatrics. 159(4)
Objectives To define the frequency and clinical features of plexiform neurofibromas (PN) in children with neurofibromatosis type 1. Study design Sixty-five children received whole-body magnetic resonance imaging (MRI) and clinical-neurologic examinat
Autor:
Carsten Fuensterer, Jens Panse, Carsten Bokemeyer, Christian Hagel, Reinhard E Friedrich, Victor-Felix Mautner, Rosa Nguyen, Hannes Kutta
Publikováno v:
Neuro-oncology. 12(1)
Bilateral vestibular schwannomas are the hallmark of neurofibromatosis type 2 (NF2), and these tumors impair hearing and frequently lead to deafness. Neurosurgical intervention, the only established treatment, often damages the vestibular nerve. We r
Akademický článek
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Autor:
Lan Kluwe, Carsten Fuensterer, Jeffrey Solomon, Victor F. Mautner, Rosa Nguyen, Eva Dombi, Jan M. Friedman, Brigitte C. Widemann
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 75 (2012)
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 75 (2012)
Background To examine the natural growth dynamics of internal plexiform neurofibromas (PNs) in patients with neurofibromatosis 1 (NF1). Methods Two hundred and one NF1 patients underwent whole body MRI (WBMRI). Tumour burden was estimated volumetrica
Autor:
Alona Muzikansky, Victor-Felix Mautner, Rosa Nguyen, Miriam A. Bredella, Manor Askenazi, Gordon J. Harris, Ara Kassarjian, Wenli Cai, Ralph Wenzel, Vanessa L. Merker, Scott R. Plotkin
Publikováno v:
Journal of Clinical Oncology. 30:6136-6136
6136 Background: NF1, NF2, and schwannomatosis are a group of related genetic disorders in which affected individuals share the predisposition to develop multiple nerve sheath tumors. While previous studies have investigated the relationship between
Autor:
Vanessa L. Merker, Lance L. Munn, Gordon J. Harris, Sonia Esparza, Rosa Nguyen, Wenli Cai, Ralph Wenzel, Ara Kassarjian, Miriam A. Bredella, Victor F. Mautner, Alona Muzikansky, Scott R. Plotkin, Manor Askenazi
Publikováno v:
PLoS ONE
PLoS ONE, Vol 7, Iss 4, p e35711 (2012)
PLoS ONE, Vol 7, Iss 4, p e35711 (2012)
Purpose Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis are at risk for multiple nerve sheath tumors and premature mortality. Traditional magnetic resonance imaging (MRI) has limited ability to assess disease burden accurately. The
Akademický článek
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