Search Results - "Toft, Christian Liebst"

L1cam-mediated developmental processes of the nervous system are differentially regulated by proteolytic processing by Linneberg, Cecilie, Toft, Christian Liebst Frisk, Kjaer-Sorensen, Kasper, Laursen, Lisbeth S.

“…Normal brain development depends on tight temporal and spatial regulation of connections between cells. Mutations in L1cam, a member of the immunoglobulin (Ig)…”
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Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls by Jeppesen, Line Dahl, Hatt, Lotte, Singh, Ripudaman, Schelde, Palle, Ravn, Katarina, Toft, Christian Liebst, Laursen, Maria Bach, Hedegaard, Jakob, Christensen, Inga Baasch, Nicolaisen, Bolette Hestbek, Andreasen, Lotte, Pedersen, Lars Henning, Vogel, Ida, Lildballe, Dorte Launholt

“…Introduction: Circulating fetal cells isolated from maternal blood can be used for prenatal testing, representing a safe alternative to invasive testing. The…”
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Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing by Toft, Christian Liebst Frisk, Ingerslev, Hans Jakob, Kesmodel, Ulrik Schiøler, Hatt, Lotte, Singh, Ripudaman, Ravn, Katarina, Nicolaisen, Bolette Hestbek, Christensen, Inga Baasch, Kølvraa, Mathias, Jeppesen, Line Dahl, Schelde, Palle, Vogel, Ida, Uldbjerg, Niels, Farlie, Richard, Sommer, Steffen, Østergård, Marianne Louise Vang, Jensen, Ann Nygaard, Mogensen, Helle, Kjartansdóttir, Kristín Rós, Degn, Birte, Okkels, Henrik, Ernst, Anja, Pedersen, Inge Søkilde

“…Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following…”
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Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease‐causing variants by Jeppesen, Line Dahl, Lildballe, Dorte Launholt, Hatt, Lotte, Hedegaard, Jakob, Singh, Ripudaman, Toft, Christian Liebst Frisk, Schelde, Palle, Pedersen, Anders Sune, Knudsen, Michael, Vogel, Ida

“…Objectives Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some…”
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Noninvasive Prenatal Screening for Cystic Fibrosis Using Circulating Trophoblasts: Detection of the 50 Most Common Disease-Causing Variants by Jeppesen, Line Dahl, Lildballe, Dorte Launholt, Hatt, Lotte, Hedegaard, Jakob, Singh, Ripudaman, Toft, Christian Liebst Frisk, Schelde, Palle, Pedersen, Anders Sune, Knudsen, Michael, Vogel, Ida

“…(Abstracted from Prenat Diagn 2023;43:3–13) Autosomal recessive disorders can have a significant impact on quality of life for parents and individuals. One of…”
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A Danish national effort of BRCA1/2 variant classification by Pedersen, Inge Søkilde, Schmidt, Ane Y, Bertelsen, Birgitte, Ernst, Anja, Andersen, Christian Liebst Toft, Kruse, Torben, Rossing, Maria, Thomassen, Mads

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Preimplantation genetic testing for aneuploidy by Holmqvist, Viktoria, Roos, Laura Kristine Soenderberg, Kjartansdottir, Kristin Ros, Dunø, Morten, Petersen, Morten Rønn, Hnida, Christina, Pedersen, Inge Søkilde, Ernst, Anja, Toft, Christian Liebst Frisk, Diemer, Tue, Ingerslev, Hans Jakob, Pinborg, Anja, Løssl, Kristine

“…This review summarises the current knowledge on preimplantation genetic testing for aneuploidy (PGT-A). Selection and transfer of euploid embryos aim to…”
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