M
Monika Grabowski
Researcher at Ludwig Maximilian University of Munich
Publications - 8
Citations - 2278
Monika Grabowski is an academic researcher from Ludwig Maximilian University of Munich. The author has contributed to research in topics: MLH1 & Allele. The author has an hindex of 6, co-authored 8 publications receiving 2167 citations. Previous affiliations of Monika Grabowski include Technische Universität München.
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Journal ArticleDOI
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
Kenneth E. White,Wayne E. Evans,Jeffery L.H. O'Riordan,Marcy C. Speer,Michael J. Econs,Bettina Lorenz-Depiereux,Bettina Lorenz-Depiereux,Monika Grabowski,Monika Grabowski,Thomas Meitinger,Thomas Meitinger,Tim M. Strom +11 more
TL;DR: A positional cloning approach was used to identify the ADHR gene which included the annotation of 37 genes within 4 Mb of genomic sequence, and missense mutations in a gene encoding a new member of the fibroblast growth factor (FGF) family, FGF23 were identified.
Journal ArticleDOI
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Alexander Zimprich,Monika Grabowski,Friedrich Asmus,Markus Naumann,Daniela Berg,M. Bertram,Karl Scheidtmann,Peter Kern,Juliane Winkelmann,Bertram Müller-Myhsok,Leonhard Riedel,Matthias F. Bauer,Tanja Müller,Mirna Castro,Thomas Meitinger,Tim M. Strom,Thomas Gasser +16 more
TL;DR: Using a positional cloning approach, five different heterozygous loss-of-function mutations in the gene for ɛ-sarcoglycan (SGCE) are identified, which is mapped to a refined critical region of about 3.2 Mb and shows a marked difference in penetrance depending on the parental origin of the disease allele.
Journal ArticleDOI
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
Monika Grabowski,Alexander Zimprich,Bettina Lorenz-Depiereux,Vera M. Kalscheuer,Friedrich Asmus,Thomas Gasser,Thomas Meitinger,Tim M. Strom +7 more
TL;DR: Strong evidence is provided for a maternal imprinting of the SGCE gene in maternal and paternal uniparental disomy 7 (UPD7) lymphoblastoid cell lines show a corresponding parent-of-origin specific methylation pattern.
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Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer
Yvonne Mueller-Koch,Holger Vogelsang,Reinhard Kopp,Peter Lohse,Gisela Keller,Daniela E. Aust,Michael H. Muders,Manfred Gross,Jens Daum,Uwe Schiemann,Monika Grabowski,Michael Scholz,Brigitte Kerker,Ingrid Becker,Gabriele Henke,Elke Holinski-Feder +15 more
TL;DR: Data show that HNPCC includes at least two entities with clinical and molecular differences, which will have implications for surveillance programmes and for cancer research.
Journal ArticleDOI
Distinction of Hereditary Nonpolyposis Colorectal Cancer and Sporadic Microsatellite-Unstable Colorectal Cancer through Quantification of MLH1 Methylation by Real-time PCR
Marcus Bettstetter,Stephan Dechant,Petra Ruemmele,Monika Grabowski,Gisela Keller,Elke Holinski-Feder,Arndt Hartmann,Ferdinand Hofstaedter,Wolfgang Dietmaier +8 more
TL;DR: In this article, the authors developed a real-time PCR-based technique to detect and quantify methylation of both proximal and distal hMLH1 promoter regions in a subset of sporadic colorectal cancers.