Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kooper Angelique JA"'
Autor:
Kooper Angelique JA, Pieters Jacqueline JPM, Faas Brigitte HW, Hoefsloot Lies H, van der Burgt Ineke, Zondervan Hans A, Smits Arie PT
Publikováno v:
Molecular Cytogenetics, Vol 5, Iss 1, p 7 (2012)
Abstract As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedu
Externí odkaz:
https://doaj.org/article/29a5118450074e2390c91fed2a591cb9
Autor:
Bhola Shama L, Creemers Johan, Go Attie, Hoffer Mariëtte VJ, Huijsdens Karin, Kooper Angelique JA, Macville Merryn VE, Nijhuis Jan G, van Oppen Carla AC, Oepkes Dick, Schuring-Blom Heleen G, Wildschut Hajo I, Birnie Erwin, Boormans Elisabeth MA, Bilardo Katia M, Suijkerbuijk Ron, Bouman Katelijne, Galjaard Robert-Jan H, Bonsel Gouke J, van Lith Jan MM
Publikováno v:
BMC Pregnancy and Childbirth, Vol 8, Iss 1, p 18 (2008)
Abstract Background In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT) has a high accuracy and reliability. However, it is labor intensive, the results
Externí odkaz:
https://doaj.org/article/80c9712e3c424858b9c6b80a54bc59f0
Autor:
Faas, Brigitte Hw, Feenstra, Ilse, Eggink, Alex J., Kooper, Angelique Ja, Pfundt, Rolph, Van Vugt, John Mg, De Leeuw, Nicole
Publikováno v:
Prenatal diagnosis, 32(4), 362-370. John Wiley and Sons Ltd
Objective: We evaluated both clinical and laboratory aspects of our new strategy offering quantitative fluorescence (QF)-PCR followed by non-targeted whole genome 250K single-nucleotide polymorphism array analysis instead of routine karyotyping for p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::3cb8c081a43f298ec98bf01e909bbbdd
https://pure.amc.nl/en/publications/nontargeted-whole-genome-250k-snp-array-analysis-as-replacement-for-karyotyping-in-fetuses-with-structural-ultrasound-anomalies(1c4b0b08-e5fc-4edd-87b6-b129b65ba3fb).html
https://pure.amc.nl/en/publications/nontargeted-whole-genome-250k-snp-array-analysis-as-replacement-for-karyotyping-in-fetuses-with-structural-ultrasound-anomalies(1c4b0b08-e5fc-4edd-87b6-b129b65ba3fb).html
Autor:
Kooper AJ; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands. Angelique.Kooper@radboudumc.nl., Faas BH, Feenstra I, de Leeuw N, Smeets DF
Publikováno v:
Molecular cytogenetics [Mol Cytogenet] 2014 Jan 16; Vol. 7 (1), pp. 6. Date of Electronic Publication: 2014 Jan 16.