Výsledky vyhledávání - "Werner Emberger"

Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions

Autor: Sophie Hinreiner, Amir Jahic, Ute Hehr, Stephan Züchner, Christian Beetz, Werner Emberger

Publikováno v: Human Mutation. 38:275-278

Deletions and duplications of genomic DNA contribute to evolution, phenotypic diversity, and human disease. The underlying mechanisms are incompletely understood. We identified deletions of exon 10 of the SPAST gene in two unrelated families with her

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f439c51a51a9980075912ce69a8d77a
https://doi.org/10.1002/humu.23162

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Design, development and evaluation of online interactive simulation software for learning human genetics

Autor: Siegfried Wassertheurer, L. Neal, Andreas Holzinger, Werner Emberger

Publikováno v: e & i Elektrotechnik und Informationstechnik. 125:190-196

OBJECTIVE: In this paper, the authors describe the design, development and evaluation of specific simulation software for Cytogenetics training in order to demonstrate the usefulness of computer simulations for both teaching and learning of complex e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::56ce3ddbcfd88b0137e59a34d2dcf4ac
https://doi.org/10.1007/s00502-008-0537-9

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Two Transforming C-RAF Germ-Line Mutations Identified in Patients with Therapy-Related Acute Myeloid Leukemia

Autor: Werner Emberger, Claudia Bodner, Armin Zebisch, Ali Delavar, Michael G. Schimek, Karin Hiden, Heinz Sill, Manickam Janakiraman, Philipp B. Staber, Christian Windpassinger, Jakob Troppmair, Holger W. Auner, Katja Fischereder, Werner Linkesch, Gerald Hoefler

Publikováno v: Cancer Research. 66:3401-3408

Mutations leading to activation of the RAF-mitogen-activated protein kinase/extracellular signal-regulated (ERK) kinase (MEK)-ERK pathway are key events in the pathogenesis of human malignancies. In a screen of 82 acute myeloid leukemia (AML) samples

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f15c26ec4c55eab4320a62b1ffa3a37
https://doi.org/10.1158/0008-5472.can-05-0115

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Chronic myeloid leukemia with a rare variant Philadelphia translocation

Autor: Klaus Wagner, Erwin Petek, Werner Emberger, H.L Seewann, M Tschernigg, A. Behmel, Peter M. Kroisel

Publikováno v: Cancer Genetics and Cytogenetics. 129:76-79

We report a 59-year-old, male, chronic myeloid leukemia patient with a rare variant Philadelphia (Ph) translocation t(9;10;22)(q34;q22;q11). Fluorescence in situ hybridization with whole chromosome paints was used to confirm the cytogenetic findings.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::82d009d4f322a3db065242f8cc380621
https://doi.org/10.1016/s0165-4608(01)00417-4

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A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity

Autor: Klaus Wagner, H. Zierler, Erwin Petek, Werner Emberger, Barbara Plecko-Startinig, Peter M. Kroisel

Publikováno v: Journal of Medical Genetics. 37:892-896

Editor—Hereditary spastic paraplegia, spastic paraplegia, or familial spastic paraplegia (HSP, SPG, or FSP) are a heterogeneous group of syndromes characterised by degeneration of corticospinal tracts. Currently, two loci for the X linked recessive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060acf7e13cf42397670bd15dda1c753
https://doi.org/10.1136/jmg.37.11.892

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MALT lymphoma and extranodal diffuse large B-cell lymphoma are targeted by aberrant somatic hypermutation

Autor: Alexander Deutsch, Maike Buettner, Ariane Aigelsreiter, Werner Emberger, Christine Beham-Schmid, Christian Guelly, Werner Linkesch, Philipp B. Staber, Ruth I. Brezinschek, Margareta Fruhwirth, Alfred Beham, Peter Neumeister

Publikováno v: Blood. 109(8)

Recently, a novel mechanism introducing genetic instability, termed aberrant somatic hypermutation (ASHM), has been described in diffuse large B-cell lymphoma. To further investigate whether ASHM also occurs in mucosa-associated lymphoid tissue type

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b7b3bdae85bc1732bfb898efc982d8
https://pubmed.ncbi.nlm.nih.gov/17197434

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A functional single-nucleotide polymorphism of the G-CSF receptor gene predisposes individuals to high-risk myelodysplastic syndrome

Autor: Werner Emberger, Werner Olipitz, Michael Pfeilstöcker, Christoph Tinchon, Claudia Bodner, Werner Linkesch, Christina Leitner, Wilfried Renner, Marijke Valkhof, Stefan J. Erkeland, Heinz Sill, Albert Wölfler, Ivo P. Touw

Publikováno v: Blood, 105(9), 3731-3736. American Society of Hematology

The granulocyte colony-stimulating factor receptor (G-CSF-R) transmits signals for proliferation and differentiation of myeloid progenitor cells. Here we report on the identification of a rare single nucleotide polymorphism within its intracellular d

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https://pure.eur.nl/en/publications/56c5bef3-7c53-48b8-8307-04d8af5abe3a

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