Beatrice Schmucker

Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation

Beatrice Schmucker, Wolfgang G. Ballhausen, Rudolf A. Pfeiffer · Human Genetics · 1996 · 47 citations

Life Sciences, Genetics, Molecular Genetics +13

Novel Alternatively Spliced Isoforms of the Neurofibromatosis Type 2 Tumor Suppressor Are Targeted to the Nucleus and Cytoplasmic Granules

Beatrice Schmucker, Yong Tang, Michael Kressel · Human Molecular Genetics · 1999 · 41 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +13

Mosaicism for a full mutation and a normal size allele in two fragile X males

Beatrice Schmucker, J�rg Seidel · American Journal of Medical Genetics · 1999 · 36 citations

Life Sciences, Genetics, Molecular Genetics +16

Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2

Hildegard Kehrer‐Sawatzki, Martin Udart, W. Krone et al. · Human Genetics · 1997 · 22 citations

Life Sciences, Genetics, Molecular Genetics +10

Subcellular localization and expression pattern of the neurofibromatosis type 2 protein merlin/schwannomin.

Beatrice Schmucker, Ballhausen Wg, Michael Kressel · PubMed · 1997 · 22 citations

Medicine, Neuroscience, Pathology +12