About: Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.     Goto   Sponge   Distinct   Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
Description
  • Pregnant women are offered a biochemical screening test for Down syndrome in the second trimester, where the suspicion for SLOS could be registered, when the unconjugated estriol (uE3) level appears low. A group of 456 fetuses with a high risk for SLOS were examined by DNA analysis. We confirmed SLOS in 5 fetuses and 11 fetuses were carriers.Both of them had nonsense mutation on one allele. It stands to reason that some modifying factors may play a role in the reduction of the uE3 level in the mother's serum.
  • Pregnant women are offered a biochemical screening test for Down syndrome in the second trimester, where the suspicion for SLOS could be registered, when the unconjugated estriol (uE3) level appears low. A group of 456 fetuses with a high risk for SLOS were examined by DNA analysis. We confirmed SLOS in 5 fetuses and 11 fetuses were carriers.Both of them had nonsense mutation on one allele. It stands to reason that some modifying factors may play a role in the reduction of the uE3 level in the mother's serum. (en)
Title
  • Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.
  • Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. (en)
skos:prefLabel
  • Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.
  • Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. (en)
skos:notation
  • RIV/00216224:14310/07:00019196!RIV10-MZ0-14310___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(LC06023), P(NR8451)
http://linked.open...iv/cisloPeriodika
  • 6
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 434870
http://linked.open...ai/riv/idVysledku
  • RIV/00216224:14310/07:00019196
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • DHCR7; molecular analysis; prenatal screening; Smith-Lemli-Opitz syndrome; unconjugated estriol (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • NL - Nizozemsko
http://linked.open...ontrolniKodProRIV
  • [AA2FF9A0342E]
http://linked.open...i/riv/nazevZdroje
  • Journal of Inherited Metabolic Disease
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 30
http://linked.open...iv/tvurceVysledku
  • Lastuvkova, J.
  • Kozák, Libor
  • Blahakova, I.
  • Kotrbova, L.
  • Makaturova, E.
  • Soukupova, M.
issn
  • 0141-8955
number of pages
http://localhost/t...ganizacniJednotka
  • 14310
is http://linked.open...avai/riv/vysledek of
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 110 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software