Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Mathias Kølvraa"'
Autor:
Lotte Hatt, Ripudaman Singh, Rikke Christensen, Katarina Ravn, Inga B Christensen, Line Dahl Jeppesen, Bolette Hestbek Nicolaisen, Mathias Kølvraa, Palle Schelde, Lotte Andreassen, Richard Farlie, Niels Uldbjerg, Ida Vogel
Publikováno v:
Clinical Case Reports, Vol 8, Iss 12, Pp 2561-2567 (2020)
Abstract In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.
Externí odkaz:
https://doaj.org/article/49ba351be5324a298550ce58e81a9ef7
Autor:
Lotte Hatt, Bolette Hestbek Nicolaisen, Helle Mogensen, Steffen Sommer, Palle Schelde, Ida Vogel, Inge Søkilde Pedersen, Mathias Kølvraa, Henrik Okkels, Christian Liebst Frisk Toft, Ulrik Schiøler Kesmodel, Richard Farlie, Line Dahl Jeppesen, Anja Ernst, Inga Baasch Christensen, Birte Degn, Katarina Ravn, Hans Jakob Ingerslev, Kristín Rós Kjartansdóttir, Marianne Louise Vang Østergård, Niels Uldbjerg, Ripudaman Singh, Ann Nygaard Jensen
Publikováno v:
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 & Pedersen, I S 2021, ' Cell-based non-invasive prenatal testing for monogenic disorders : confirmation of unaffected fetuses following preimplantation genetic testing ', Journal of Assisted Reproduction and Genetics, vol. 38, no. 8, pp. 1959-1970 . https://doi.org/10.1007/s10815-021-02104-5
Journal of Assisted Reproduction and Genetics
Journal of Assisted Reproduction and Genetics
Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was performed by com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2edcf80da04180683417130d568d9cb
https://doi.org/10.1007/s10815-021-02104-5
https://doi.org/10.1007/s10815-021-02104-5
Autor:
Palle Schelde, Inga Baasch Christensen, Niels Uldbjerg, Katarina Ravn, Lotte Hatt, Bolette Hestbek Nicolaisen, Ripudaman Singh, Richard Farlie, Line Dahl Jeppesen, Rikke Christensen, Lotte Andreassen, Ida Vogel, Mathias Kølvraa
Publikováno v:
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
Clinical Case Reports
Clinical Case Reports, Vol 8, Iss 12, Pp 2561-2567 (2020)
Clinical Case Reports
Clinical Case Reports, Vol 8, Iss 12, Pp 2561-2567 (2020)
In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.
In two cases
In two cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f1c1f49b31c8f59109e175345502269
https://pure.au.dk/portal/da/publications/cellbased-noninvasive-prenatal-testing-cbnipt-detects-pathogenic-copy-number-variations(892f5933-b659-41bc-9aa8-ba39e22f8a82).html
https://pure.au.dk/portal/da/publications/cellbased-noninvasive-prenatal-testing-cbnipt-detects-pathogenic-copy-number-variations(892f5933-b659-41bc-9aa8-ba39e22f8a82).html
Autor:
Niels Uldbjerg, Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Katarina Ravn, Dorte L Lildballe, Ida Vogel, Mathias Kølvraa, Palle Schelde
Publikováno v:
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
OBJECTIVE: We aimed to develop cell-based NIPT for cystic fibrosis (CF) and test a pregnancy at risk of two common pathogenic variants.METHOD: A pregnant woman carrying monozygotic twins opted for prenatal testing as she and her partner were heterozy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb8116db7e8c65dfa211a3729504c952
https://pubmed.ncbi.nlm.nih.gov/33150588
https://pubmed.ncbi.nlm.nih.gov/33150588
Autor:
Johnny Hindkjær, Ida Vogel, Palle Schelde, Niels Uldbjerg, Katarina Ravn, Mathias Kølvraa, Ripudaman Singh, Lotte Hatt
Publikováno v:
Reproductive Sciences
Ravn, K, Singh, R, Hatt, L, Kølvraa, M, Schelde, P, Vogel, I, Uldbjerg, N & Hindkaer, J 2020, ' The Number of Circulating Fetal Extravillous Trophoblasts Varies from Gestational Week 6 to 20 ', Reproductive Sciences, vol. 27, no. 12, pp. 2170-2174 . https://doi.org/10.1007/s43032-020-00243-1
Ravn, K, Singh, R, Hatt, L, Kølvraa, M, Schelde, P, Vogel, I, Uldbjerg, N & Hindkaer, J 2020, ' The Number of Circulating Fetal Extravillous Trophoblasts Varies from Gestational Week 6 to 20 ', Reproductive Sciences, vol. 27, no. 12, pp. 2170-2174 . https://doi.org/10.1007/s43032-020-00243-1
Cell-based non-invasive prenatal testing (cbNIPT) based on circulating fetal extravillous trophoblasts (fEVTs) has shown to be possible in gestational week (GW) 10–13. Prenatal testing is relevant for a wider time period than GW 10–13, but it is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f886a79b069af36993d4f55112f0360e
https://pubmed.ncbi.nlm.nih.gov/32602048
https://pubmed.ncbi.nlm.nih.gov/32602048
Autor:
Niels Uldbjerg, Anne Van De Looij, Ripudaman Singh, Line Dahl Jeppesen, Lotte Hatt, Palle Schelde, Katarina Ravn, Bolette Hestbek Nicolaisen, Ida Vogel, Mathias Kølvraa
Publikováno v:
Acta Obstetricia et Gynecologica Scandinavica
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
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
Introduction Circulating fetal extravillous trophoblasts may offer a superior alternative to cell-free fetal DNA for noninvasive prenatal testing. Cells of fetal origin are a pure source of fetal genome; hence, unlike the cell-free noninvasive prenat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04150193c535939943426a30c7562040
https://pubmed.ncbi.nlm.nih.gov/32323316
https://pubmed.ncbi.nlm.nih.gov/32323316
Publikováno v:
The Journal of Physiology. 592:33-47
Key points • One of the two main inputs to the cerebellum consists of climbing fibres from neurons in the inferior olivary nucleus (IO). • The IO spontaneously forms clusters of co-active neurons in transverse brainstem slices from 1- to 2-week-o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::477a16aeda9759fbc29a2bc7575ac01e
https://doi.org/10.1113/jphysiol.2013.260067
https://doi.org/10.1113/jphysiol.2013.260067
Autor:
Hatt, Lotte1 (AUTHOR) lh@arcedi.com, Singh, Ripudaman1 (AUTHOR), Christensen, Rikke2 (AUTHOR), Ravn, Katarina1 (AUTHOR), Christensen, Inga B1 (AUTHOR), Jeppesen, Line Dahl1 (AUTHOR), Nicolaisen, Bolette Hestbek1 (AUTHOR), Kølvraa, Mathias1 (AUTHOR), Schelde, Palle1 (AUTHOR), Andreassen, Lotte2 (AUTHOR), Farlie, Richard3 (AUTHOR), Uldbjerg, Niels4,5 (AUTHOR), Vogel, Ida2,5 (AUTHOR)
Publikováno v:
Clinical Case Reports. Dec2020, Vol. 8 Issue 12, p2561-2567. 7p.
Autor:
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
Publikováno v:
Journal of Assisted Reproduction & Genetics; Aug2021, Vol. 38 Issue 8, p1959-1970, 12p
Autor:
Jeppesen, Line Dahl, Hatt, Lotte, Singh, Ripudaman, Ravn, Katarina, Kølvraa, Mathias, Schelde, Palle, Uldbjerg, Niels, Vogel, Ida, Lildballe, Dorte L.
Publikováno v:
Prenatal Diagnosis; Jan2021, Vol. 41 Issue 2, p234-240, 7p