Search Results - "Lildballe, Dorte Launholt"

Comparison of recombinant human haptocorrin expressed in human embryonic kidney cells and native haptocorrin by Furger, Evelyne, Fedosov, Sergey N, Lildballe, Dorte Launholt, Waibel, Robert, Schibli, Roger, Nexo, Ebba, Fischer, Eliane

“…Haptocorrin (HC) is a circulating corrinoid binding protein with unclear function. In contrast to transcobalamin, the other transport protein in blood, HC is…”
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Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination by Aamann, Luise, Ørntoft, Nikolaj, Vogel, Ida, Grønbaek, Henning, Becher, Naja, Vilstrup, Hendrik, Ott, Peter, Lildballe, Dorte Launholt

“…Objectives: A few adult and adolescent patients with even severe cholestatic liver disease remain unexplained after standard diagnostic work-up. We studied the…”
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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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Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy by Calloe, Kirstine, Magnusson, Helena B. D., Lildballe, Dorte Launholt, Christiansen, Morten Krogh, Jensen, Henrik Kjærulf

“…In the past 20 years, genetic variants in SCN5A encoding the cardiac voltage-gated sodium channel Na v 1.5 have been linked to a range of inherited cardiac…”
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Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform by Vaeth, Signe, Christensen, Rikke, Dunø, Morten, Lildballe, Dorte Launholt, Thorsen, Kasper, Vissing, John, Svenstrup, Kirsten, Hertz, Jens Michael, Andersen, Henning, Jensen, Uffe Birk

“…Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with…”
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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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P0036THE EFFECT OF CKD ASSOCIATED SNPS ON THE PROGRESSION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE by Nielsen, Marlene Louise, Lildballe, Dorte Launholt, Jørgensen, Mads, Rasmussen, Maria, Birn, Henrik

“…Abstract Background and Aims Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent, inherited, cystic kidney disease. It is characterized…”
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Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region by Erbs, Emilie, Fenger-Grøn, Jesper, Jacobsen, Cecilie Mondrup, Lildballe, Dorte Launholt, Rasmussen, Maria

“…Fragile X syndrome (FXS) is caused by CGG-repeat expansion in the 5’ UTR of FMR1 of >200 repeats. Rarely, FXS is caused by deletions; however, it is not clear…”
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On the road to replacing invasive testing with cell‐based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism by Vestergaard, Else Marie, Singh, Ripudaman, Schelde, Palle, Hatt, Lotte, Ravn, Katarina, Christensen, Rikke, Lildballe, Dorte Launholt, Petersen, Olav Bjørn, Uldbjerg, Niels, Vogel, Ida

“…Objective Trophoblastic fetal cells harvested from maternal blood have the capacity to be used for copy number analyses in a cell‐based non‐invasive prenatal…”
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The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years by Granhøj, Jeff, Pedersen, Katja Venborg, Aagaard, Mads Malik, Graakjaer, Jesper Aagaard, Lildballe, Dorte Launholt, Birn, Henrik, Rasmussen, Maria

“…Background Genomic disorders caused by copy number variations (CNVs) are prevalent in patients with kidney disease; however, their contribution to chronic…”
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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 decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018 by Lildballe, Dorte Launholt, Becher, Naja, Vestergaard, Else Marie, Christensen, Rikke, Lou, Stina, Sandager, Puk, Pedersen, Lars Henning, Gadsbøll, Kasper, Petersen, Olav Bjørn, Vogel, Ida

“…Introduction In 2011, it was decided to implement chromosomal microarray in prenatal testing in the Central Denmark Region, mainly due to the expected higher…”
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Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome by Christiansen, Morten Krogh, Kjær-Sørensen, Kasper, Clavsen, Natacha C., Dittmann, Sven, Jensen, Maja Fuhlendorff, Guldbrandsen, Halvor Østerby, Pedersen, Lisbeth Nørum, Sørensen, Rikke Hasle, Lildballe, Dorte Launholt, Müller, Klara, Müller, Patrick, Vogel, Kira, Rudic, Boris, Borggrefe, Martin, Oxvig, Claus, Aalkjær, Christian, Schulze-Bahr, Eric, Matchkov, Vladimir, Bundgaard, Henning, Jensen, Henrik Kjærulf

“…A variant in the SLC4A3 anion exchanger has been identified as a novel cause of short QT syndrome (SQTS), but the clinical importance of SLC4A3 as a cause of…”
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Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report by Kristiansen, Mona Kjaerboel, Niemann, Isa, Lindegaard, Jacob Christian, Christiansen, Mette, Joergensen, Mette Warming, Vogel, Ida, Lildballe, Dorte Launholt, Sunde, Lone

“…This case report describes the use of analysis of cell-free DNA in the blood of a patient with a pregnancy with one live fetus and a choriocarcinoma diagnosed…”
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A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia by Henningsen, Emil, Svendsen, Mathias Tiedemann, Lildballe, Dorte Launholt, Jensen, Peter Kjestrup Axel

“…We report on a 2‐year‐old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia,…”
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Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy: NIPT identifies tetrasomi 18p in a high-risk pregnancy by Lildballe, Dorte Launholt, Vogel, Ida, Lund, Ida Charlotte Bay, Stornes, Inger, Jørgensen, Mette Warming, Vestergaard, Else Marie

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Cover Image, Volume 37, Issue 11 by Vestergaard, Else Marie, Singh, Ripudaman, Schelde, Palle, Hatt, Lotte, Ravn, Katarina, Christensen, Rikke, Lildballe, Dorte Launholt, Petersen, Olav Bjørn, Uldbjerg, Niels, Vogel, Ida

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Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy by Lildballe, Dorte Launholt, Vogel, Ida, Lund, Ida Charlotte Bay, Stornes, Inger, Jørgensen, Mette Warming, Vestergaard, Else Marie

“…What's already known about this topic? Basic NIPT is a sensitive method that may reveal unexpected structural chromosomal abnormalities What does this study…”
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Diagnostic performance of quantitative fluorescence PCR analysis in high-risk pregnancies after combined first-trimester screening by Lildballe, Dorte Launholt, Vogel, Ida, Petersen, Olav Bjørn, Vestergaard, Else Marie

“…We aimed to determine the diagnostic efficiency of quantitative fluorescence polymerase chain reaction (QF-PCR) in a clinical setting where most of the…”
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The Expression Level of the Chromatin-Associated HMGB1 Protein Influences Growth, Stress Tolerance, and Transcriptome in Arabidopsis by Lildballe, Dorte Launholt, Pedersen, Dorthe S., Kalamajka, Rainer, Emmersen, Jeppe, Houben, Andreas, Grasser, Klaus D.

“…High mobility group (HMG) proteins of the HMGB family are small and relatively abundant chromatin-associated proteins. As architectural factors, the HMGB…”
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