1 to 10 of 34 literature results

• Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

  Several large-scale studies of human genetic variation have provided insights into processes such as recombination that have shaped human diversity. H…

  Authors: Thomas De Raedt, Matthew Stephens, Ine Heyns, Hilde Brems, Daisy Thijs, Ludwine Messiaen, Karen Stephens, Conxi Lazaro, Katharina Wimmer, Hildegard Kehrer-Sawatzki,…

  Source: Nature genetics. 2006 Dec

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• Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

  Large deletions in the NF1 gene region at 17q11.2 are caused by nonallelic homologous recombination (NAHR). The recurrent type-2 NF1 deletions span 1.…

  Authors: Angelika C Roehl, David N Cooper, Lan Kluwe, Andreas Helbrich, Katharina Wimmer, Josef Högel, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki

  Source: Human mutation. 2010 Mar

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• Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.

  Approximately 5% of patients with neurofibromatosis type 1 (NF1) exhibit gross deletions that encompass the NF1 gene and its flanking regions. The bre…

  Authors: Katharina Steinmann, David N Cooper, Lan Kluwe, Nadia A Chuzhanova, Cornelia Senger, Eduard Serra, Conxi Lazaro, Montserrat Gilaberte, Katharina Wimmer, Viktor-Felix Mautner,…

  Source: American journal of human genetics. 2007 Dec

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• Ral overactivation in malignant peripheral nerve sheath tumors.

  Ras leads an important signaling pathway that is deregulated in neurofibromatosis type 1 and malignant peripheral nerve sheath tumor (MPNST). In this …

  Authors: Vidya Bodempudi, Farnaz Yamoutpoor, Weihong Pan, Arkadiusz Z Dudek, Tuba Esfandyari, Mark Piedra, Dusica Babovick-Vuksanovic, Richard A Woo, Victor F Mautner, Lan Kluwe,…

  Source: Molecular and cellular biology. 2009 Jul

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• Correlation of nonsense and frameshift mutations with severity of retinal abnormalities in neurofibromatosis 2.

  BACKGROUND: Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is characterized by nervous system tumors and ocular abnormalities. OBJECT…

  Authors: Matthias Feucht, Lan Kluwe, Victor-Felix Mautner, Gisbert Richard

  Source: Archives of ophthalmology. 2008 Oct

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• Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

  About 10% of neurofibromatosis type 1 (NF1) patients develop malignant peripheral nerve sheath tumors (MPNSTs) and represent considerable patient morb…

  Authors: M Upadhyaya, Lan Kluwe, G Spurlock, Bisma Monem, E Majounie, K Mantripragada, Martino Ruggieri, N Chuzhanova, D G Evans, R Ferner,…

  Source: Human mutation. 2008 Jan

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• The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

  Neurofibromatosis type 1 (NF1) is a common inherited complex multi-system disorder associated with the growth of various benign and malignant tumors. …

  Authors: Meena Upadhyaya, Gill Spurlock, Lan Kluwe, Nadia Chuzhanova, Emma Bennett, Nick Thomas, Abhijit Guha, Victor Mautner

  Source: Neurogenetics. 2009 Jul

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• Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1.

  People with neurofibromatosis 1 (NF1) have multiple benign neurofibromas and a 10% lifetime risk of developing malignant peripheral nerve sheath tumor…

  Authors: Victor-F Mautner, Florence A Asuagbor, Eva Dombi, Carsten Fünsterer, Lan Kluwe, Ralf Wenzel, Brigitte C Widemann, Jan M Friedman

  Source: Neuro-oncology. 2008 Aug

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• Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues.

  Malignant peripheral nerve sheath tumors (MPNST) are highly invasive soft tissue sarcomas that arise within the peripheral nerve and frequently metast…

  Authors: Shyra J Miller, Fatima Rangwala, Jon Williams, Peter Ackerman, Sue Kong, Anil G Jegga, Sergio Kaiser, Bruce J Aronow, Silke Frahm, Lan Kluwe,…

  Source: Cancer research. 2006 Mar 1

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• Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.

  Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1…

  Authors: Hildegard Kehrer-Sawatzki, Lan Kluwe, Carsten Fünsterer, Victor-Felix Mautner

  Source: Human genetics. 2005 May

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