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  1. No Access

    Article

    Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene

    In this study, we analyzed a “variant of uncertain significance” (VUS) located in exon 23 of the BRCA2 gene exhibited by six members of five distinct families with hereditary breast cancer (BC). The variant was i...

    Michelle G. Rath, Farnoosh Fathali-Zadeh… in Breast Cancer Research and Treatment (2012)

  2. No Access

    Article

    p53 Germline mutation in a patient with Li-Fraumeni Syndrome and three metachronous malignancies

    Abstract

    Claudia Pötzsch, Theda Voigtländer… in Journal of Cancer Research and Clinical On… (2002)

  3. No Access

    Article

    Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification

    We report a 25-week fetus with lethal Ellis-van Creveld syndrome who was diagnosed prenatally from the US detection of a narrow chest, postaxial polydactyly of the hands, short acro-/mesomelic limbs and a ven...

    C. Sergi, Theda Voigtländer, Saida Zoubaa, Sabine Hentze… in Pediatric Radiology (2001)

  4. No Access

    Article

    Low alpha-fetoprotein and serum albumin levels in Morbus Down may point to a common regulatory mechanism

    Theda Voigtländer, F. Vogel in Human Genetics (1985)

  5. No Access

    Article

    Quantitative and qualitative assay of amniotic-fluid acetylcholinesterase in the prenatal diagnosis of neural tube defects

    In 110 amniotic fluids the specific acetylcholinesterase was determined quantitatively and qualitatively. In the quantitative assay there were a considerable number of false positives and false negatives, alth...

    Theda Voigtländer, Waltraud Friedl, Marion Cremer, W. Schmidt… in Human Genetics (1981)

  6. No Access

    Article

    Demonstration of astrocytes in cultured amniotic fluid cells of three cases with neural-tube defect

    We have investigated the origin of rapidly adhering (RA) cells in three cases of neural tube defects (two anencephali, one encephalocele). We were able to demonstrate the presence of glial fibrillary acidic (G...

    Marion Cremer, Melitta Schachner, Thomas Cremer, Werner Schmidt… in Human Genetics (1981)

  7. No Access

    Article

    Rapidly adhering cells in two cases of anencephaly

    We report the successful use of a new method described by Gosden and Borck (1977) in two cases of anencephaly; according to this method ‘rapidly adhering cells’ are identified as neural cells of a specific mor...

    Theda Voigtländer, Ursula Müller, Traute M. Schroeder in Human Genetics (1978)