M. Grabowski

发表

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

T. Meitinger, T. Strom, F. Asmus, 2003, European Journal of Human Genetics.

Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer

D. Aust, M. Muders, G. Keller, 2005, Gut.

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

T. Meitinger, T. Strom, K. White, 2000, Nature Genetics.

Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t (4;14)(q21;p12).

C. Fauth, M. Speicher, A. Wirtz, 2000, American journal of medical genetics.

Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome

T. Meitinger, T. Strom, D. Berg, 2001, Nature Genetics.

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.

T. Meitinger, T. Strom, D. Berg, 2001, Nature genetics.

Distinction of Hereditary Nonpolyposis Colorectal Cancer and Sporadic Microsatellite-Unstable Colorectal Cancer through Quantification of MLH1 Methylation by Real-time PCR

Arndt Hartmann, Wolfgang Dietmaier, A. Hartmann, 2007, Clinical Cancer Research.

A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients.

U. Koehler, U. Bacher, E. Holinski-Feder, 2007, Cancer genetics and cytogenetics.

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.

E. Grasbon-Frodl, W. Dietmaier, G. Keller, 2005, Genetic testing.

HNPCC – clinical and molecular evidence for a new entity of hereditary colorectal cancer

D. Aust, M., M. Scholz, 2005 .