Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Marlene Louise Nielsen"'
Autor:
Maria Rasmussen, Lone Sunde, Dorte L Lildballe, Marlene Louise Nielsen, Peter C. Harris, Henrik Birn, Mia C Mundt, Vicente E. Torres
Publikováno v:
Nielsen, M L, Mundt, M C, Lildballe, D L, Rasmussen, M, Sunde, L, Torres, V E, Harris, P C & Birn, H 2021, ' Functional megalin is expressed in renal cysts in a mouse model of adult polycystic kidney disease ', Clinical Kidney Journal, vol. 14, no. 11, pp. 2420-2427 . https://doi.org/10.1093/ckj/sfab088
Clinical Kidney Journal
Clinical Kidney Journal
Background Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the progressive growth of cysts and a decline of renal function. The clinical feasibility of the number of potential disease-modifying drugs is limited by systemic ad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::515730fe66cf6ef06e1b9457a703ea96
https://vbn.aau.dk/ws/files/511107220/Nielsen_et_al._2021_Functional_megalin_is_expressed_in_renal_cysts_in_a_mouse_model_of_adult_polycystic_kidney_disease.pdf
https://vbn.aau.dk/ws/files/511107220/Nielsen_et_al._2021_Functional_megalin_is_expressed_in_renal_cysts_in_a_mouse_model_of_adult_polycystic_kidney_disease.pdf
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
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
http://europepmc.org/articles/PMC7886549
Publikováno v:
Nephrology Dialysis Transplantation. 35
Background and Aims Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent, inherited, cystic kidney disease. It is characterized by formation and growth of renal cysts obstructing normal tubules leading to a decline in renal funct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e15c9f9fe473d5d6b983786b25a1c86e
https://doi.org/10.1093/ndt/gfaa142.p0036
https://doi.org/10.1093/ndt/gfaa142.p0036
Autor:
Henrik Birn, Anders Bojesen, Dorte L Lildballe, Marlene Louise Nielsen, Maria Rasmussen, Lone Sunde
Publikováno v:
Nielsen, M L, Lildballe, D L, Rasmussen, M, Bojesen, A, Birn, H & Sunde, L 2021, ' Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants ', European Journal of Medical Genetics, vol. 64, no. 4, 104183 . https://doi.org/10.1016/j.ejmg.2021.104183
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common heritable kidney disease. ADPKD leads to cysts, kidney enlargement and end-stage renal disease. ADPKD is mainly caused by variants in PKD1 and PKD2, with truncating PK
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::788196d2ca95d5768bfd94f60d90aa16
https://doi.org/10.1016/j.ejmg.2021.104183
https://doi.org/10.1016/j.ejmg.2021.104183
Autor:
Maria Rasmussen, Lone Sunde, Marlene Louise Nielsen, Mette Ramsing, Astrid Petersen, Tina Duelund Hjortshøj, Tina Elisabeth Olsen, Ann Tabor, Jens Michael Hertz, Iben Johnsen, Lene Søndergaard Sperling, Olav Petersen, Uffe Birk Jensen, Michael Bjørn Petersen, Dorte Lildballe
Publikováno v:
Aarhus University
Rasmussen, M, Sunde, L, Nielsen, M L, Ramsing, M, Petersen, A, Hjortshøj, T D, Olsen, T E, Tabor, A, Hertz, J MI, Johnsen, I, Sperling, L, Petersen, O B, Jensen, U B, Petersen, M B & Lidballe, D L 2016, ' Fetal Kidney Anomalies: Next Generation Sequencing ' .
Rasmussen, M, Sunde, L, Nielsen, M L, Ramsing, M, Petersen, A, Hjortshøj, T D, Olsen, T E, Tabor, A, Hertz, J M, Johnsen, I, Sperling, L S, Petersen, O B, Jensen, U B, Petersen, M B & Lildballe, D L 2016, ' Fetal Kidney Anomalies: Next Generation Sequencing ', European Society of Human Genetics Conference 2016, Barcelona, Spain, 21/05/2016-24/05/2016 .
Rasmussen, M, Sunde, L, Nielsen, M L, Ramsing, M, Petersen, A, Hjortshøj, T D, Olsen, T E, Tabor, A, Hertz, J MI, Johnsen, I, Sperling, L, Petersen, O B, Jensen, U B, Petersen, M B & Lidballe, D L 2016, ' Fetal Kidney Anomalies: Next Generation Sequencing ' .
Rasmussen, M, Sunde, L, Nielsen, M L, Ramsing, M, Petersen, A, Hjortshøj, T D, Olsen, T E, Tabor, A, Hertz, J M, Johnsen, I, Sperling, L S, Petersen, O B, Jensen, U B, Petersen, M B & Lildballe, D L 2016, ' Fetal Kidney Anomalies: Next Generation Sequencing ', European Society of Human Genetics Conference 2016, Barcelona, Spain, 21/05/2016-24/05/2016 .
Aim and IntroductionIdentification of abnormal kidneys in the fetus may lead to termination of the pregnancy and raises questions about the underlying cause and recurrence risk in future pregnancies.In this study, we investigate the effectiveness of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::13f396cbf1ded811a90fb327734df228
https://pure.au.dk/portal/en/publications/fetal-kidney-anomalies-next-generation-sequencing(e6a809d4-2e20-46c8-a5b4-b57a25ba2707).html
https://pure.au.dk/portal/en/publications/fetal-kidney-anomalies-next-generation-sequencing(e6a809d4-2e20-46c8-a5b4-b57a25ba2707).html