About: Our first experience in preimplantation genetic diagnosis.     Goto   Sponge   NotDistinct   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
  • Prevention of the birth of affected children in couples at risk for transmitting a genetic disorder is currently based on population screening and prenatal diagnosis, followed by termination of affected pregnancies. However, this is the most sensitive problem in the control of genetic disease, which is incompatible with life or not tolerated in populations and ethnic groups. Preimplantation genetic diagnosis (PGD) is a principally new approach for the prevention of genetic disorders, which allows the selection of unaffected IVF embryos for establishing pregnancies in couples at risk. PGD may be achieved by testing female gametes (polar body analysis), blastomeres from cleavage stage embryos, or blastocysts. PGD can be applied for monogenic disorders or chromosomal abnormalities, using diagnostic protocols based on the polymerase chain reaction (PCR) or fluorescence in situ hybridisation (FISH), respectively. Our genetic centre at present concentrates on chromosomal abnormalities, while also on genot
  • Prevention of the birth of affected children in couples at risk for transmitting a genetic disorder is currently based on population screening and prenatal diagnosis, followed by termination of affected pregnancies. However, this is the most sensitive problem in the control of genetic disease, which is incompatible with life or not tolerated in populations and ethnic groups. Preimplantation genetic diagnosis (PGD) is a principally new approach for the prevention of genetic disorders, which allows the selection of unaffected IVF embryos for establishing pregnancies in couples at risk. PGD may be achieved by testing female gametes (polar body analysis), blastomeres from cleavage stage embryos, or blastocysts. PGD can be applied for monogenic disorders or chromosomal abnormalities, using diagnostic protocols based on the polymerase chain reaction (PCR) or fluorescence in situ hybridisation (FISH), respectively. Our genetic centre at present concentrates on chromosomal abnormalities, while also on genot (en)
  • Práce se zabývá prvními zkušenostmi pracoviště OLG FN Brno a Laboratoře molekulární cytogenetiky PřF MU s preimplantační genetickou diagnostikou při vyšetřování početních i strukturních chromozomových abnormalit a některých monogenních onemocnění (cystická fibróza). (cs)
Title
  • Our first experience in preimplantation genetic diagnosis.
  • Our first experience in preimplantation genetic diagnosis. (en)
  • Naše první zkušenosti s preimplantační genetickou diagnostikou (cs)
skos:prefLabel
  • Our first experience in preimplantation genetic diagnosis.
  • Our first experience in preimplantation genetic diagnosis. (en)
  • Naše první zkušenosti s preimplantační genetickou diagnostikou (cs)
skos:notation
  • RIV/00216224:14310/05:00014636!RIV06-MSM-14310___
http://linked.open.../vavai/riv/strany
  • 268
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • Z(MSM0021622415)
http://linked.open...iv/cisloPeriodika
  • Suppl. 1
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
  • 535162
http://linked.open...ai/riv/idVysledku
  • RIV/00216224:14310/05:00014636
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • PGD; chromosomal aberrations; FISH; PCR; cystic fibrosis (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • CZ - Česká republika
http://linked.open...ontrolniKodProRIV
  • [5EC8080A94A4]
http://linked.open...i/riv/nazevZdroje
  • European Journal of Human Genetics
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 13
http://linked.open...iv/tvurceVysledku
  • Gaillyová, Renata
  • Kuglík, Petr
  • Slámová, Iva
  • Kadlecová, Jitka
  • Valášková, Iveta
http://linked.open...n/vavai/riv/zamer
issn
  • 1018-4813
number of pages
http://localhost/t...ganizacniJednotka
  • 14310
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, 9 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software