Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT
Jeppesen, Line Dahl, Hatt, Lotte, Singh, Ripudaman, Schelde, Palle, Andreasen, Lotte, Markholt, Sara, Lildballe, Dorte L., Vogel, Ida
Published in Frontiers in genetics (14.09.2021)
Published in Frontiers in genetics (14.09.2021)
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Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency
Lautrup, Charlotte K., Teik, Keng W., Unzaki, Ai, Mizumoto, Shuji, Syx, Delfien, Sin, Heng H., Nielsen, Irene K., Markholt, Sara, Yamada, Shuhei, Malfait, Fransiska, Matsumoto, Naomichi, Miyake, Noriko, Kosho, Tomoki
Published in Molecular genetics & genomic medicine (01.05.2020)
Published in Molecular genetics & genomic medicine (01.05.2020)
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Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2
Markholt, Sara, Andreasen, Lotte, Bjerre, Jesper, Gregersen, Pernille Axél, Andersen, Brian Nauheimer
Published in European journal of medical genetics (01.02.2023)
Published in European journal of medical genetics (01.02.2023)
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Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease
Lildballe, Dorte L., Markholt, Sara, Lyngholm, Christina Daugaard, Hao, Qin, Fagerberg, Christina, Nielsen, Dorte Guldbrand, Svensmark, Julius Hannibal, Diness, Birgitte Rode, Gregersen, Pernille A.
Published in American journal of medical genetics. Part A (01.11.2024)
Published in American journal of medical genetics. Part A (01.11.2024)
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Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer
Djursby, Malene, Hansen, Thomas van Overeem, Wadt, Karin A. W., Madsen, Majbritt Busk, Berchtold, Lukas Adrian, Lautrup, Charlotte Kvist, Markholt, Sara, Jensen, Uffe Birk, Krogh, Lotte Nylandsted, Lundsgaard, Malene, Gerdes, Anne Marie, Nilbert, Mef, Therkildsen, Christina
Published in Human genetics (01.12.2022)
Published in Human genetics (01.12.2022)
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A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome
Markholt, Sara, Skaerbaek, Jens, Munk, Kim, Andersen, Brian N., Lilballe, Dorte L., Blechingberg, Jenny, Petersen, Jesper P., Bjerre, Jesper V., Gregersen, Pernille A., Kyng, Kasper J.
Published in Progress in pediatric cardiology (01.12.2024)
Published in Progress in pediatric cardiology (01.12.2024)
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How does cell‐based non‐invasive prenatal test (NIPT) perform against chorionic villus sampling and cell‐free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark
Hatt, Lotte, Ravn, Katarina, Dahl Jeppesen, Line, Hestbek Nicolaisen, Bolette, Baasch Christensen, Inga, Singh, Ripudaman, Schelde, Palle, Horsholt Thomsen, Simon, Christensen, Rikke, Sinding, Marianne, Vase, Laura, Oestergaard, Marianne, Bender Ruggard, Marie, Jensen, Hanne S., Mogensen, Helle, Uldbjerg, Niels, Becher, Naja, Markholt, Sara, Sandager, Puk, Henning Pedersen, Lars, Vogel, Ida
Published in Prenatal diagnosis (01.06.2023)
Published in Prenatal diagnosis (01.06.2023)
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A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2
Markholt, Sara, Graakjaer, Jesper, Thim, Signe Bødker, Høst, Bente, Skytte, Anne‐Bine
Published in Clinical case reports (01.07.2017)
Published in Clinical case reports (01.07.2017)
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Metallic Silver Fragments Cause Massive Tissue Loss in the Mouse Brain
Locht, Linda Jansons, Pedersen, Mie Ø., Markholt, Sara, Bibby, Bo Martin, Larsen, Agnete, Penkowa, Milena, Stoltenberg, Meredin, Rungby, Jørgen
Published in Basic & clinical pharmacology & toxicology (01.07.2011)
Published in Basic & clinical pharmacology & toxicology (01.07.2011)
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Journal Article
Metallic Silver Fragments Cause Massive Tissue Loss in the Mouse Brain: SILVER-INDUCED TISSUE LOSS IN MOUSE BRAIN
Locht, Linda Jansons, Pedersen, Mie Ø., Markholt, Sara, Bibby, Bo Martin, Larsen, Agnete, Penkowa, Milena, Stoltenberg, Meredin, Rungby, Jørgen
Published in Basic & clinical pharmacology & toxicology (01.07.2011)
Published in Basic & clinical pharmacology & toxicology (01.07.2011)
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