Zobrazeno 1 - 10
of 34
pro vyhledávání: '"K. R. Held"'
Publikováno v:
Clinical Genetics. 54:341-344
In a child with some features of Turner's syndrome, gonosomal mosaicism with an isodicentric nonfluorescent (idic)Y chromosome was detected (mos 45,X/47,X,idic(Y)(q11),idic(Y)(11)/46,X,idic(Y)(q11)). Histopathological examination showed streak gonads
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d83654fbe9289f36f6ea7971e1d65d9
https://doi.org/10.1034/j.1399-0004.1998.5440413.x
https://doi.org/10.1034/j.1399-0004.1998.5440413.x
Autor:
N. Freerksen, A. Feige, B. Misselwitz, I. Mylonas, K. Technau, T. Schwenzer, F. Lassner, Werner Rath, P. Van de Vondel, T. W. Goecke, M. Schmidt, U. Germer, E. Beinder, B. Kemp, Stephan Schmidt, Holger Stepan, W. E. Paulus, M. Hohmann, K. Jundt, R. Fuchs, H. Kleinwechter, V. Geissbühler, Annegret Geipel, Gerhard Martius, J. Wertenbruch, K. Friese, A. Dorn, M. Becker, R. Gärtner, P. Bung, T. Dimpfl, C. P. Speer, B. Dreuw, K. van der Ven, F. Kainer, U. Gembruch, U. Friebe-Hoffmann, C. Bartz, C. Lersch, K. Schoner, C. Brezinka, J. Wirbelauer, D. Surbek, J. Baltzer, W. Henrich, T. Fischer, T. Reimer, Waltraut M. Merz, H. Maul, W. Rath, B. U. Zimmermann, K. R. Held, B. Huppertz, F. Peters, U. Stamer, B. Leeners, A. Rohde, B. Seelbach-Göbel, R. L. Schild, U. Schäfer-Graf, K. Vonderhagen, K. Scheibner, Ulrich Gembruch, Christoph Berg, A. Strauss, B. Tutschek, F. Lammert, S. Schmidt, M. A. Lersch, H. Rehder
Publikováno v:
Geburtshilfe und Perinatalmedizin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cbb2f595d45cd8b5c0966b90b66d0066
https://doi.org/10.1055/b-002-10339
https://doi.org/10.1055/b-002-10339
Autor:
K. R. Held
Publikováno v:
Sexuality and Disability. 10:237-243
Current trends towards “normalization” of the disabled provide opportunities especially for mentally retarded adolescents to enjoy satisfying sexual experiences. However, the right of mentally disabled persons to their own sexuality has become an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::944b7474cb4a1c02df722d89421170f3
https://doi.org/10.1007/bf01102038
https://doi.org/10.1007/bf01102038
Publikováno v:
Geburtshilfe und Frauenheilkunde. 68
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9b2f14e55098e66a25bd87e22a9ccba
https://doi.org/10.1055/s-0028-1088958
https://doi.org/10.1055/s-0028-1088958
Publikováno v:
Geburtshilfe und Frauenheilkunde. 50:954-958
This study was designed to assess the feasibility of amniocentesis and amnion cell culture for prenatal diagnosis in early weeks of gestation (less than 15 weeks). Within a period of 18 months (1/88-6/89) 135 diagnostic amniocenteses were performed b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9801d7eb75dff7c105f04bb9742493ea
https://doi.org/10.1055/s-2008-1026398
https://doi.org/10.1055/s-2008-1026398
Publikováno v:
Molekulare Medizin in der Frauenheilkunde ISBN: 9783642632891
Die pranatale Chromosomendiagnostik stellt heute einen wesentlichen Bestandteil der pranatalen Medizin dar. Etwa jedes zweihundertste Kind kommt mit einer Chromosomenstorung zur Welt. Diese Storungen konnen mit hoher Sicherheit durch eine pranatale C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b2757e19aeafaaefb36869f1e364aa4
https://doi.org/10.1007/978-3-642-57533-4_5
https://doi.org/10.1007/978-3-642-57533-4_5
Publikováno v:
Fetal diagnosis and therapy. 16(4)
Nuchal translucency measurement of 3 mm or more (or = 95th centile for gestation age), hydrops fetalis or hygroma colli between the 11th and 14th weeks of gestation is associated with a higher risk of fetal Down syndrome and other aneuploidies. So fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2e3c536d65853fe3a5eb7dde0083a9da
https://pubmed.ncbi.nlm.nih.gov/11399881
https://pubmed.ncbi.nlm.nih.gov/11399881
Autor:
Ebener U, Enczmann J, R Seelig, Ahmet H. Elmaagacli, Michael Schleuning, Christian Thiede, J. Maurer, J. H. Clement, Philippe Schafhausen, Eckhard Thiel, Andreas Hochhaus, K U Lentes, R Leo, K R Held, Georg Hess, Höppner W, K L Schäfer, M Aivado, R Schoch, Michael Lübbert, F Grünebach, S Viehmann, S Wilhelm, C Weber, F Schüler, K Seeger, Christian Schmidt, A Christmann, Thomas Burmeister
Publikováno v:
Scopus-Elsevier
Here we describe the results of an interlaboratory test for RT-PCR-based BCR/ABL analysis. The test was organized in two parts. The number of participating laboratories in the first and second part was 27 and 20, respectively. In the first part sampl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f68a9a22190e7b3d60c1099fe701ec9
https://pubmed.ncbi.nlm.nih.gov/11021760
https://pubmed.ncbi.nlm.nih.gov/11021760
Autor:
S, Arps, T, Koske-Westphal, P, Meinecke, D, Meschede, E, Nieschlag, W, Harprecht, E, Steuber, E, Back, G, Wolff, S, Kerber, K R, Held
Publikováno v:
American journal of medical genetics. 64(4)
In this collaborative study we report on 2 prenatally and 5 postnatally diagnosed cases with a 47,X,i(Xq),Y chromosomal constitution. Excepting tall stature, the 5 adult patients showed all typical manifestations of Klinefelter syndrome. Taken togeth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e4ac025ff8ab7b4311718b8cbc4d0d40
https://pubmed.ncbi.nlm.nih.gov/8870925
https://pubmed.ncbi.nlm.nih.gov/8870925
Publikováno v:
Acta Universitatis Carolinae. Medica. 38(1-4)
The problems in differentiating chromosomal mosaicism from pseudomosaicism after amniocentesis and CVS are demonstrated in 6 cases. Two cases of true mosaicism (45, X/46, XX and 46, XY/47, XXY) were of clinical relevance. In both cases the aberrant c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4d48fbbc68255d78780afa687c3421e3
https://pubmed.ncbi.nlm.nih.gov/8904914
https://pubmed.ncbi.nlm.nih.gov/8904914