Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Rüdiger Rauskolb"'
Autor:
Christiane Römke, Klaus Heyne, Helga Rehder, Wolfram Höhn, Ursula Froster-Iskenius, Grzegorz Grzetszczyk, Rüdiger Rauskolb, Eberhard Schwinger, Marita Hof
Publikováno v:
Clinical Genetics. 31:170-177
A family with three siblings showing different manifestations of Roberts syndrome or SC phocomelia is described. With regard to previously published cases of familial Roberts syndrome and SC phocomelia we conclude that these two syndromes are one and
Publikováno v:
Prenatal Diagnosis. 10:219-229
Recently a monoclonal antibody (19-DEJ-1) was produced with binding specificity for the mid-lamina lucida of the skin dermo-epidermal junction, in very close association with overlying hemidesmosomes. Since skin cleavage occurs within the lamina luci
Publikováno v:
52. Kongreß der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d64e6c300fb0bb108f655254b4f49e3
https://doi.org/10.1007/978-3-642-59688-9
https://doi.org/10.1007/978-3-642-59688-9
Publikováno v:
American journal of medical genetics. 25(1)
Chromosomal mosaicism confined to the placenta is a serious problem in first-trimester fetal diagnosis. We report a case of mosaicism of trisomy 7. The aneuploid cell line could not be confirmed in fetal tissue.
Autor:
Rüdiger Rauskolb, Lars Löfberg, Vesna Jovanovic, Eric Cordesius, Björn Gustavii, Ingrun Anton-Lamprecht, Marie-Luise Arnold
Publikováno v:
Fortschritte der praktischen Dermatologie und Venerologie ISBN: 9783540130758
Eine der vielversprechendsten und faszinierendsten Entwicklungen der modernen klinischen Genetik hat sich mit der Moglichkeit der intrauterinen Entnahme fetaler Hautbiopsien mittels Fetoskopie ergeben. Die meisten schweren Genodermatosen sind — bis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f007540798b0ba22e60f2865c086664
https://doi.org/10.1007/978-3-642-82207-0_47
https://doi.org/10.1007/978-3-642-82207-0_47
Publikováno v:
American journal of medical genetics. 34(4)
A case of a false-negative first-trimester diagnosis following chorionic villus sampling is reported that ended with the birth of a child with Down syndrome. Chromosome analysis of 30 metaphases from 24 h-cultured chorionic villi obtained in week 12