About: Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report     Goto   Sponge   NotDistinct   Permalink

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Description
  • Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disorder with an incidence of approximately 1 in 3500 males, caused by mutation in the DMD gene, located on Xp21.2. About 2/3 of DMD cases are caused by gross DMD gene deletion mutations.Mutations in the DMD gene result in a progressive muscle degeneration and early death. We reported a case of a family with a occurence of DMD. By means of PCR deletion of exon 45-50 was founded at one year son with clinical proved DMD. His healthy mother was detected as carrier for this mutation. The preimplantation genetic diagnosis (PGD) was used for detection of deletion in dystrophine gene at next pregnancy. 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. PGD can be applied for monogenic disorders or chromozomal abnormalities using diagnostic protocols based on the PCR or fluorescence in situ hybridization. Seven embryos were biops
  • Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disorder with an incidence of approximately 1 in 3500 males, caused by mutation in the DMD gene, located on Xp21.2. About 2/3 of DMD cases are caused by gross DMD gene deletion mutations.Mutations in the DMD gene result in a progressive muscle degeneration and early death. We reported a case of a family with a occurence of DMD. By means of PCR deletion of exon 45-50 was founded at one year son with clinical proved DMD. His healthy mother was detected as carrier for this mutation. The preimplantation genetic diagnosis (PGD) was used for detection of deletion in dystrophine gene at next pregnancy. 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. PGD can be applied for monogenic disorders or chromozomal abnormalities using diagnostic protocols based on the PCR or fluorescence in situ hybridization. Seven embryos were biops (en)
  • Práce popisuje kazuistiku pacientky s delecí exonu 45-50, u níž byla provedena preimplantační genetická diagnostika Duchennovy muskulární dystrofie pomocí techniky FISH. (cs)
Title
  • Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report
  • Preimplantační genetická diagnostika Duchennovy muskulární dystrofie - kazuistika (cs)
  • Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report (en)
skos:prefLabel
  • Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report
  • Preimplantační genetická diagnostika Duchennovy muskulární dystrofie - kazuistika (cs)
  • Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report (en)
skos:notation
  • RIV/00216224:14310/06:00017854!RIV07-MSM-14310___
http://linked.open.../vavai/riv/strany
  • 175
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • Z(MSM0021622415)
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
  • 494148
http://linked.open...ai/riv/idVysledku
  • RIV/00216224:14310/06:00017854
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Duchenne muscular dystrophy; FISH; preimplantation genetic diagnosis (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...ontrolniKodProRIV
  • [E83846109FED]
http://linked.open...v/mistoKonaniAkce
  • Amsterdam
http://linked.open...i/riv/mistoVydani
  • Amsterdam
http://linked.open...i/riv/nazevZdroje
  • European Journal of Human Genetics
http://linked.open...in/vavai/riv/obor
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http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...iv/tvurceVysledku
  • Gaillyová, Renata
  • Kuglík, Petr
  • Ravčuková, Barbora
  • Slámová, Iva
  • Filková, Hana
http://linked.open...vavai/riv/typAkce
http://linked.open.../riv/zahajeniAkce
http://linked.open...n/vavai/riv/zamer
issn
  • 1018-4813
number of pages
http://purl.org/ne...btex#hasPublisher
  • ESHG
http://localhost/t...ganizacniJednotka
  • 14310
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