نتائج البحث - "Jeppesen, Line Dahl"

1

Academic Journal

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

المؤلفون: 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

المصدر: Jeppesen , L D , Hatt , L , Singh , R , Schelde , P , Ravn , K , Toft , C L , Laursen , M B , Hedegaard , J , Christensen , I B , Nicolaisen , B H , Andreasen , L , Pedersen , L H , Vogel , I & Lildballe , D L 2023 , ' Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls ' , Frontiers in Genetics , bind 14 , 1188472 . https://doi.org/10.3389/fgene.2023.1188472

Relation: https://pure.au.dk/portal/en/publications/1cb36b0f-21f8-406d-a18c-963bb2c5cc41

الاتاحة: https://pure.au.dk/portal/en/publications/1cb36b0f-21f8-406d-a18c-963bb2c5cc41
https://doi.org/10.3389/fgene.2023.1188472

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2

Academic Journal

Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts:Detection of the 50 most common disease-causing variants

المؤلفون: 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

المصدر: Jeppesen , L D , Lildballe , D L , Hatt , L , Hedegaard , J , Singh , R , Toft , C L F , Schelde , P , Pedersen , A S , Knudsen , M & Vogel , I 2023 , ' Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts : Detection of the 50 most common disease-causing variants ' , Prenatal Diagnosis , vol. 43 , no. 1 , pp. 3-13 . https://doi.org/10.1002/pd.6276

مصطلحات موضوعية: Cystic Fibrosis/diagnosis, Female, Fetus, Genetic Testing/methods, Humans, Noninvasive Prenatal Testing, Pregnancy, Prenatal Diagnosis/methods, Trophoblasts

Relation: https://pure.au.dk/portal/en/publications/8e5a4b2d-edb9-45ba-ab7b-b0ef9bc5e424

الاتاحة: https://pure.au.dk/portal/en/publications/8e5a4b2d-edb9-45ba-ab7b-b0ef9bc5e424
https://doi.org/10.1002/pd.6276
http://www.scopus.com/inward/record.url?scp=85144027127&partnerID=8YFLogxK

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3

Academic Journal

Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy

المؤلفون: Jeppesen, Line Dahl, Hjortshøj, Tina Duelund, Hindkjær, Johnny, Hatt, Lotte, Petersen, Olav Bjørn, Singh, Ripudaman, Schelde, Palle, Andreasen, Lotte, Christensen, Rikke, Lildballe, Dorte L., Vogel, Ida

المصدر: Jeppesen , L D , Hjortshøj , T D , Hindkjær , J , Hatt , L , Petersen , O B , Singh , R , Schelde , P , Andreasen , L , Christensen , R , Lildballe , D L & Vogel , I 2022 , ' Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy ' , Frontiers in Genetics , vol. 13 , 842092 . https://doi.org/10.3389/fgene.2022.842092

مصطلحات موضوعية: cell-based NIPT, cell-free NIPT, circulating fetal cells, extravillous trophoblasts, klinefelter syndrome, sex chromosome anomaly, twin pregnancy

Relation: https://pure.au.dk/portal/en/publications/089ae02e-4d94-4197-aa0e-3d1bbaa6a5f6

الاتاحة: https://pure.au.dk/portal/en/publications/089ae02e-4d94-4197-aa0e-3d1bbaa6a5f6
https://doi.org/10.3389/fgene.2022.842092
http://www.scopus.com/inward/record.url?scp=85127681996&partnerID=8YFLogxK

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4

Academic Journal

Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT

المؤلفون: Jeppesen, Line Dahl, Hatt, Lotte, Singh, Ripudaman, Schelde, Palle, Andreasen, Lotte, Markholt, Sara, Lildballe, Dorte L., Vogel, Ida

المصدر: Jeppesen , L D , Hatt , L , Singh , R , Schelde , P , Andreasen , L , Markholt , S , Lildballe , D L & Vogel , I 2021 , ' Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT ' , Frontiers in Genetics , vol. 12 , 741752 . https://doi.org/10.3389/fgene.2021.741752

مصطلحات موضوعية: cell-based noninvasive prenatal testing, extravillous trophoblast, non-invasive prenatal testing, sex chromosomal aneuploidies, turner mosaic

Relation: https://pure.au.dk/portal/en/publications/5a7f6ff7-d488-4049-9926-e40be6546924

الاتاحة: https://pure.au.dk/portal/en/publications/5a7f6ff7-d488-4049-9926-e40be6546924
https://doi.org/10.3389/fgene.2021.741752
http://www.scopus.com/inward/record.url?scp=85116023794&partnerID=8YFLogxK

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5

Academic Journal

Cell-based non-invasive prenatal testing for monogenic disorders:confirmation of unaffected fetuses following preimplantation genetic testing

المصدر: Toft , C L F , Ingerslev , H J , Kesmodel , U S , Hatt , L , Singh , R , Ravn , K , Nicolaisen , B H , Christensen , I B , Kølvraa , M , Jeppesen , L D , Schelde , P , Vogel , I , Uldbjerg , N , Farlie , R , Sommer , S , Østergård , M L V , Jensen , A N , Mogensen , H , Kjartansdóttir , K R , Degn , B , Okkels , H , Ernst , A & ....

مصطلحات موضوعية: cbNIPT, PGT-M, Prenatal testing, STR markers

وصف الملف: application/pdf

الاتاحة: https://pure.au.dk/portal/en/publications/810f60ca-eb85-45fd-9fd0-dab247a59f79
https://doi.org/10.1007/s10815-021-02104-5
https://pure.au.dk/ws/files/273932365/Toft2021_Article_Cell_basedNon_invasivePrenatal.pdf
http://www.scopus.com/inward/record.url?scp=85102315918&partnerID=8YFLogxK

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6

Academic Journal

Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis

المؤلفون: Jeppesen, Line Dahl, Hatt, Lotte, Singh, Ripudaman, Ravn, Katarina, Kølvraa, Mathias, Schelde, Palle, Uldbjerg, Niels, Vogel, Ida, Lildballe, Dorte L.

المصدر: Jeppesen , L D , Hatt , L , Singh , R , Ravn , K , Kølvraa , M , Schelde , P , Uldbjerg , N , Vogel , I & Lildballe , D L 2021 , ' Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis ' , Prenatal Diagnosis , vol. 41 , no. 2 , pp. 234-240 . https://doi.org/10.1002/pd.5861

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/6b42f760-d996-4509-8390-e1c038327ab1

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/6b42f760-d996-4509-8390-e1c038327ab1
https://doi.org/10.1002/pd.5861
https://findresearcher.sdu.dk/ws/files/175310145/pd.5861.pdf

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7

Academic Journal

Do fetal extravillous trophoblasts circulate in maternal blood postpartum?

المؤلفون: Van De Looij, Anne, Singh, Ripudaman, Hatt, Lotte, Ravn, Katarina, Jeppesen, Line Dahl, Nicolaisen, Bolette Hestbek, Kølvraa, Mathias, Vogel, Ida, Schelde, Palle, Uldbjerg, Niels

المصدر: Van De Looij , A , Singh , R , Hatt , L , Ravn , K , Jeppesen , L D , Nicolaisen , B H , Kølvraa , M , Vogel , I , Schelde , P & Uldbjerg , N 2020 , ' Do fetal extravillous trophoblasts circulate in maternal blood postpartum? ' , Acta Obstetricia et Gynecologica Scandinavica , vol. 99 , no. 6 , pp. 751-756 . https://doi.org/10.1111/aogs.13880

مصطلحات موضوعية: chorionic villi sampling, fetal cells, fetal extravillous trophoblasts, noninvasive prenatal testing, prenatal diagnosis, CELLS, MICROCHIMERISM, PLASMA, NONINVASIVE PRENATAL-DIAGNOSIS, DNA, ANEUPLOIDIES

وصف الملف: application/pdf

Relation: https://pure.au.dk/portal/en/publications/2bd0b790-366b-4206-8ecd-dd79ca1a0733

الاتاحة: https://pure.au.dk/portal/en/publications/2bd0b790-366b-4206-8ecd-dd79ca1a0733
https://doi.org/10.1111/aogs.13880
https://pure.au.dk/ws/files/220257515/aogs.13880.pdf

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8

Academic Journal

Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

المؤلفون: Hatt, Lotte, Singh, Ripudaman, Christensen, Rikke, Ravn, Katarina, Christensen, Inga B., Jeppesen, Line Dahl, Nicolaisen, Bolette Hestbek, Kolvraa, Mathias, Schelde, Palle, Andreassen, Lotte, Farlie, Richard, Uldbjerg, Niels, Vogel, Ida

المصدر: Hatt , L , Singh , R , Christensen , R , Ravn , K , Christensen , I B , Jeppesen , L D , Nicolaisen , B H , Kolvraa , M , Schelde , P , Andreassen , L , Farlie , R , Uldbjerg , N & Vogel , I 2020 , ' Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations ' , Clinical Case Reports , vol. 8 , no. 12 , pp. 2561-2567 . https://doi.org/10.1002/ccr3.3211

مصطلحات موضوعية: 3p deletion, 3p26 deletion, cell-based noninvasive prenatal testing, copy number variation, Noninvasive prenatal testing, Prader-Willi syndrome, PRADER-WILLI-SYNDROME, DIAGNOSIS, DNA