Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Helle Mogensen"'
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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
Autor: Lotte Hatt, Katarina Ravn, Line Dahl Jeppesen, Bolette Hestbek Nicolaisen, Inga Baasch Christensen, Ripudaman Singh, Palle Schelde, Simon Horsholt Thomsen, Rikke Christensen, Marianne Sinding, Laura Vase, Marianne Oestergaard, Marie Bender Ruggard, Hanne S. Jensen, Helle Mogensen, Niels Uldbjerg, Naja Becher, Sara Markholt, Puk Sandager, Lars Henning Pedersen, Ida Vogel
Publikováno v: Hatt, L, Ravn, K, Dahl Jeppesen, L, Hestbek Nicolaisen, B, Baasch Christensen, I, Singh, R, Schelde, P, Horsholt Thomsen, S, Christensen, R, Sinding, M, Vase, L, Oestergaard, M, Bender Ruggard, M, Jensen, H S, Mogensen, H, Uldbjerg, N, Becher, N, Markholt, S, Sandager, P, Henning Pedersen, L & Vogel, I 2023, ' 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 ', Prenatal Diagnosis, vol. 43, no. 7, pp. 854-864 . https://doi.org/10.1002/pd.6387
Hatt, L, Ravn, K, Dahl Jeppesen, L, Hestbek Nicolaisen, B, Baasch Christensen, I, Singh, R, Schelde, P, Horsholt Thomsen, S, Christensen, R, Sinding, M, Vase, L, Oestergaard, M, Bender Ruggard, M, Jensen, H S, Mogensen, H, Uldbjerg, N, Becher, N, Markholt, S, Sandager, P, Henning Pedersen, L & Vogel, I 2023, ' 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 ', Prenatal Diagnosis . https://doi.org/10.1002/pd.6387
ObjectivesWe aimed to compare cell-based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell-free NIPT (cfNIPT).Material and MethodsStudy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::019b06e0e878e82bce141d7fdef2abbf
https://pure.au.dk/portal/da/publications/how-does-cellbased-noninvasive-prenatal-test-nipt-perform-against-chorionic-villus-sampling-and-cellfree-nipt-in-detecting-trisomies-and-copy-number-variations(78d72510-337f-49de-ab1a-b5099380614c).html
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2
Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing
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
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
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3
PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
Autor: Helle Mogensen, Maria Rasmussen, J. Robert Manak, Marlene Louise Nielsen, Dorte Launtoft Lildballe
Publikováno v: Clinical Kidney Journal
Rasmussen, M, Nielsen, M L, Manak, J R, Mogensen, H & Lildballe, D L 2021, ' PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability ', Clinical Kidney Journal, vol. 14, no. 2, pp. 704-706 . https://doi.org/10.1093/ckj/sfaa013
Pathogenic variants in PAX2 have previously been associated with renal coloboma syndrome. Here we present a novel variant c.68T>C associated with bilateral kidney agenesis, minimal change nephropathy, ureteropelvic junction obstruction, duplex kidney
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2b45b328b1f5a9b38b5f8b6223aec79
http://europepmc.org/articles/PMC7886549
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4
Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy
Autor: Rikke Nielsen, Erik Ilsø Christensen, Helle Mogensen, Ulla Feldt-Rasmussen, Christoffer Valdorff Madsen, Åse Krogh Rasmussen
Publikováno v: JIMD Reports ISBN: 9783662586167
Madsen, C V, Christensen, E I, Nielsen, R, Mogensen, H, Rasmussen, Å K & Feldt-Rasmussen, U 2019, Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy . in JIMD Reports . vol. 44, Springer, JIMD Reports, pp. 93-101 . https://doi.org/10.1007/8904_2018_129
Fabry disease (FD) is an X-linked, lysosomal storage disease. Mutations in the gene coding for alpha-galactosidase A lead to globotriaosylceramide (Gb-3) accumulation in lysosomes and in placenta and umbilical cord. Impact of FD and treatment with en
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ffa34830134fbc72cc9e969e3132c07
https://pubmed.ncbi.nlm.nih.gov/30117110
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7
Influence of chorionicity on perinatal outcome in a large cohort of Danish twin pregnancies
Autor: Birgit Bødker, Helle Zingenberg, Helle Mogensen, F. S. Jørgensen, Anna Oldenburg, A. Holmskov, Line Rode, L. Sperling, Steen Rasmussen, Torben Larsen, Olav Bjørn Petersen, Helle Larsen, I. Stornes, Lone Laursen, Ann Tabor, Lillian Skibsted, V. Ersbak
Publikováno v: Oldenburg, A M, Rode, L, Bødker, M L B, Ersbak, V, Holmskov, A, Jørgensen, F S, Larsen, H, Larsen, T, Laursen, L, Mogensen, H, Petersen, O B, Rasmussen, S, Skibsted, L H, Sperling, L, Stornes, I, Zingenberg, H J & Tabor, A 2012, ' Influence of chorionicity on perinatal outcome in a large cohort of Danish twin pregnancies ', Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 39, no. 1, pp. 69-74 . https://doi.org/10.1002/uog.10057
Objective To assess outcome in twin pregnancies according to chorionicity. Methods A cohort was retrieved from local ultrasound databases at 14 obstetric departments in Denmark, comprising all twin pregnancies with two live fetuses scanned between we
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69c15b4b1a94e6f955e55cf45966cbb6
https://portal.findresearcher.sdu.dk/da/publications/76dde2ea-eb24-45b5-9232-50207b0eb1e0
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8
[Hymen imperforatus with atypical symptom presentation]
Autor: Marie Josée Zareh, Lausten-Thomsen, Helle, Mogensen
Publikováno v: Ugeskrift for laeger. 169(6)
One in every 2,000 girls has hymen imperforatus. A few are recognized at birth because of mucocolpos. The rest are not detected before puberty. Typical symptoms are abdominal pain and distension of the lower abdomen, and half of the girls present wit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::21d9004e0bd5311af907f728b02278e9
https://pubmed.ncbi.nlm.nih.gov/17303037
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9
Feasibility and effectiveness of structured hospital based nurse-led atrial fibrillation service
Autor: Ina Qvist, Dorthe Møller, Andi Eie Albertsen, Helle Mogensen, Gitte Dahlmann, Jeroen Ml Hendriks, Annette Odgaard, Lars Frost
Publikováno v: Aarhus University
Qvist, I, Møller, D, Albertsen, A E, Mogensen, H, Dahlmann, G, Hendriks, J M, Odgaard, A & Frost, L 2014, ' Feasibility and effectiveness of structured hospital based nurse-led atrial fibrillation service ', ESC Congress 2014, Barcelona, Spain, 30/08/2014-03/09/2014 . < http://spo.escardio.org/SessionDetails.aspx?eevtid=69&sessId=14105&subSessId=3580&searchQuery=%2Fdefault.aspx%3Feevtid%3D69%26days%3D%26topics%3D%26types%3D%26rooms%3D%26freetext%3Dhendriks%26sort%3D1%26page%3D1%26showResults%3DTrue%26nbPerPage%3D20#.VMqi4tKG_Sk >
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0af714d10f370ace2d6e7644408c7605
https://pure.au.dk/portal/en/publications/feasibility-and-effectiveness-of-structured-hospital-based-nurseled-atrial-fibrillation-service(aaa83c6a-6967-43b9-9d61-287196a6eae3).html
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10
Graviditet kompliceret af pseudoxanthoma elasticum
Autor: Henrik Christian Drue, Helle Mogensen, Annette Wind Olesen
Publikováno v: University of Southern Denmark
Drue, H C, Mogensen, H & Olesen, A W 2014, ' Graviditet kompliceret af pseudoxanthoma elasticum ', Ugeskrift for Laeger, bind 176, nr. 41, s. 2-3 .
Pseudoxanthoma elasticum (PXE) is a rare inherited systemic disorder characterized by progressive calcification in the elastic tissue. Information about pregnancy in women with PXE is sparse. We report of a 36-year-old Caucasian woman, diagnosed with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::755d44616c094330e521a475d6230212
https://portal.findresearcher.sdu.dk/en/publications/b795b39a-a553-4be2-91a9-08527cd7e93b
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Plný text Recenzováno Digitální knihovna AV ČR
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