Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Karsten R. Held"'
Autor:
Karsten R. Held, Susanne Zahn
Publikováno v:
Medizinische Genetik. 26:398-404
Zusammenfassung Wegen des Fehlens stringenter Indikationskriterien hat sich die Microarray-CGH in der Pränataldiagnostik nur schwer etablieren können. Auf der Basis der Ergebnisse von 4626 pränatalen Chromosomenanalysen wurden Kriterien für die I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::469b36182a9a7e633e0c7715851e3684
https://doi.org/10.1007/s11825-014-0020-4
https://doi.org/10.1007/s11825-014-0020-4
Publikováno v:
Revista Ecuatoriana de Medicina y Ciencias Biológicas. 25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1e7f933e0e0bb4c4f65f65d51355428
https://doi.org/10.26807/remcb.v25i1.96
https://doi.org/10.26807/remcb.v25i1.96
Autor:
Karsten R. Held, Hrycejová I, Göran Annerén, Burjanková J, Hronková J, Milan Macek, Karl-Henrik Gustavson, Tomásová H
Publikováno v:
Clinical Genetics. 32:403-408
The activity of gamma-glutamyl transferase (GGT) was measured in amniotic fluid collected between the 16th and 30th weeks of gestation from 81 pregnancies with fetuses affected by chromosomal aberrations, nine with different types of inborn errors of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::108a553e138dcd7d6b2915e7f4e0fd3c
https://doi.org/10.1111/j.1399-0004.1987.tb03158.x
https://doi.org/10.1111/j.1399-0004.1987.tb03158.x
Autor:
Karsten R. Held, Uta Burck
Publikováno v:
Clinical Genetics. 19:117-121
The case of a female infant with athelia is reported. Her mother, maternal aunt and grandmother show hypodontia, sparse hair and small breasts associated with mammillary hypoplasia. The clinical features and the results of MINOR's sweat test suggest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::497e1ee5896cb77a3221c27be5a8e892
https://doi.org/10.1111/j.1399-0004.1981.tb00680.x
https://doi.org/10.1111/j.1399-0004.1981.tb00680.x
Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families*
Publikováno v:
Clinical Genetics. 11:193-200
Incorporation of hypoxanthine, resistance to 8-azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch-Nyham syndrome, from two families with variant H-PRT mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f37f3aa6af7c15b0571175144c0a9806
https://doi.org/10.1111/j.1399-0004.1977.tb01299.x
https://doi.org/10.1111/j.1399-0004.1977.tb01299.x
Publikováno v:
Fetal Diagnosis and Therapy. 16:211-214
Objectives: Nuchal translucency measurement of 3 mm or more (≧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 aneuploid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f8cccd5665e406c01880568ee805366
https://doi.org/10.1159/000053912
https://doi.org/10.1159/000053912
Autor:
Lothar Kochhan, Winfried Schmidt, Susanne Kerber, B.-Joachim Hackelöer, Karsten R. Held, Jutta Jenderny, Kurt Hecher
Publikováno v:
Molecular Human Reproduction. 6:855-860
A quantitative fluorescent-polymerase chain reaction (QF-PCR) test system with different short tandem repeat (STR) markers of the X chromosome (SBMA, DXS8377 and DXS1283E) together with the amelogenin locus (AMXY) was developed for the rapid detectio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96acfc76d766c247c9db35a2e9c69f75
https://doi.org/10.1093/molehr/6.9.855
https://doi.org/10.1093/molehr/6.9.855
Autor:
Karsten R. Held
Publikováno v:
Ultraschalldiagnostik in Geburtshilfe und Gynäkologie ISBN: 9783642296321
Ultraschalldiagnostik in Geburtshilfe und Gynäkologie ISBN: 9783662536612
Ultraschalldiagnostik in Geburtshilfe und Gynäkologie ISBN: 9783662536612
Die Einfuhrung der Amniozentese Ende der 1960er Jahre war die Voraussetzung fur eine routinemasige Beurteilung des fetalen Chromosomensatzes. Die Hauptindikation fur den Einsatz pranataldiagnostischer Verfahren war uber mehr als 20 Jahre der Ausschlu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02969663d35ab4fb013157aba94b97e
https://doi.org/10.1007/978-3-642-29633-8_27
https://doi.org/10.1007/978-3-642-29633-8_27
Publikováno v:
International Journal of Cancer. 91:742-744
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7cbb415ec081599d0851c6544d1fb97f
https://doi.org/10.1002/1097-0215(200002)9999:9999<::aid-ijc1116>3.0.co
https://doi.org/10.1002/1097-0215(200002)9999:9999<::aid-ijc1116>3.0.co
Autor:
Karsten R. Held, Soenke Arps, Sunday Ocheni, Axel R. Zander, A A Oyekunle, Christine Wolschke, Nicolaus Kröger, Ulrike Bacher, Tatjana Zabelina, Raissa Adjallé, Evgeny Klyuchnikov, Francis Ayuk
Publikováno v:
Acta haematologica. 125(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e61bcf1496a1346ddee6b6073aba98e
https://pubmed.ncbi.nlm.nih.gov/21196720
https://pubmed.ncbi.nlm.nih.gov/21196720