Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Tina Duelund Hjortshøj"'
Autor:
Line Dahl Jeppesen, Tina Duelund Hjortshøj, Johnny Hindkjær, Lotte Hatt, Olav Bjørn Petersen, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Rikke Christensen, Dorte L. Lildballe, Ida Vogel
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: The existing risk of procedure-related miscarriage following invasive sampling for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test these typically difficultly obtained pregnancies invasively. Therefo
Externí odkaz:
https://doaj.org/article/6d8ecfc0f11141ca99712dbd0659adde
Autor:
Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 46-50 (2018)
Bardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded b
Externí odkaz:
https://doaj.org/article/abd4f7f3df094583b820fdf661d242c2
Autor:
Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Publikováno v:
Stem Cell Research, Vol 41, Iss , Pp - (2019)
Bardet-Biedl syndrome (BBS), an autosomal recessive disease, is associated with non-functional primary cilia. BBS5 is part of the protein complex termed the BBSome. The BBSome associates with intra flagellar transport (IFT) particles and mediates tra
Externí odkaz:
https://doaj.org/article/226d3f57ae254eb5a2934bb72beca7d3
Autor:
Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Publikováno v:
Stem Cell Research, Vol 31, Iss , Pp 235-239 (2018)
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with a wide range of symptoms including obesity, retinal dystrophy, polycystic kidney disease, polydactyly, hypogonadism and learning difficulties. Here we describe the successful gener
Externí odkaz:
https://doaj.org/article/5f0502619a3b460c9cd667a6b9ed278c
Autor:
Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outi Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand
Publikováno v:
PLoS Genetics, Vol 14, Iss 11, p e1007780 (2018)
Clustered copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) are often reported as germline chromothripsis. However, such cases might need further investigations by massive parallel whole genome sequencing (WGS) in order
Externí odkaz:
https://doaj.org/article/69ea9822f491409e90114bf9c70d2228
Autor:
Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 3, p 1345 (2021)
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal dystrophy, renal cysts, obesity and polydactyly. BBS genes have been implicated in ciliogenesis, hedgehog signaling and retinal pigment epithelium maturation. BBS1 and BBS5 are memb
Externí odkaz:
https://doaj.org/article/28c7f634e94b4e43b94b23038daa5544
Autor:
Mathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj, Morten Dunø, Lotte Risom, Mads Bak, Jakob Ek, Rikke S. Møller, Andrea Ciolfi, Marco Tartaglia, Zeynep Tümer
Publikováno v:
Clinical Genetics. 103:688-692
Autor:
Steffen Ernesto Kristensen, Charlotte Kvist Ekelund, Puk Sandager, Finn Stener Jørgensen, Eva Hoseth, Lene Sperling, Sedrah Butt Balaganeshan, Tina Duelund Hjortshøj, Kasper Gadsbøll, Alan Wright, David Wright, Andrew McLennan, Karin Sundberg, Olav Bjørn Petersen
Publikováno v:
Kristensen, S E, Ekelund, C K, Sandager, P, Jørgensen, F S, Hoseth, E, Sperling, L, Balaganeshan, S B, Hjortshøj, T D, Gadsbøll, K, Wright, A, Wright, D, McLennan, A, Sundberg, K & Petersen, O B 2023, ' Risks and pregnancy outcome after fetal reduction in dichorionic twin pregnancies : a Danish national retrospective cohort study ', American Journal of Obstetrics and Gynecology, vol. 228, no. 5, pp. 590.e1-590.e12 . https://doi.org/10.1016/j.ajog.2022.10.028
BackgroundTwin pregnancies carry a higher risk of congenital and structural malformations, and pregnancy complications including miscarriage, stillbirth, and intrauterine fetal death, compared with singleton pregnancies. Carrying a fetus with severe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::719dcd37bebe76e744539c1f5ea11f2a
https://vbn.aau.dk/ws/files/532547041/Kristensen_et_al._2023_._Risks_and_pregnancy_outcome_after_fetal_reduction_in_dichorionic_twin_pregnancies_a_Danish_national_retrospective_cohort_study.pdf
https://vbn.aau.dk/ws/files/532547041/Kristensen_et_al._2023_._Risks_and_pregnancy_outcome_after_fetal_reduction_in_dichorionic_twin_pregnancies_a_Danish_national_retrospective_cohort_study.pdf
Autor:
Steffen Ernesto Kristensen, Charlotte Kvist Ekelund, Puk Sandager, Finn Stener Jørgensen, Eva Hoseth, Lene Sperling, Helle Jeanette Zingenberg, Tina Duelund Hjortshøj, Kasper Gadsbøll, Alan Wright, David Wright, Andrew McLennan, Karin Sundberg, Olav Bjørn Petersen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8178e1c7d38c23179ca33376082c0386
https://doi.org/10.2139/ssrn.4329996
https://doi.org/10.2139/ssrn.4329996
Autor:
Cheryl Cytrynbaum, Francesca Mattioli, Maria J. Guillen Sacoto, Federico Santoni, Rosanna Weksberg, Amina Nasar, Annemarie Fock, Henry Houlden, Shaikh Riazuddin, Tobias B. Haack, Roisin Sullivan, Mona Grimmel, Helen Griffin, Stylianos E. Antonarakis, Nuzhat Rana, Andreea Manole, Marisa I. Mendes, Ayca Dilruba Aslanger, Justyna Iwaszkiewicz, Julia Mohr, Rolph Pfundt, Muhammed Ilyas, Tina Duelund Hjortshøj, Kshitij Mankad, Muhammad Ansar, Katherine M. Christensen, Sonal Desai, Aida Telegrafi, Faisal Zafar, Helena Gásdal Karstensen, Dagan Jenkins, Yue Si, John F. Mantovani, Alice Goldenberg, Sylvain Debard, Muhammad T. Sarwar, Jagdeep S. Walia, Stephanie Efthymiou, Rita Horvath, Vincenzo Salpietro, Reza Maroofian, Jawad Ahmed, Joost Raaphorst, Lindsay B. Henderson, Benyekhlef Kara, Lauren Badalato, Adnan Y. Manzur, Desirée E.C. Smith, Ruben Portier, Marwan Shinawi, Marisa V. Andrews, Gajja S. Salomons, John B. Vincent, Amélie Piton, Felix Distelmaier, Emmanuelle Ranza, Jean-Louis Mandel, Sohail A. Paracha, Marybeth Hummel, Jürg Bähler, Dustin Baldridge, Muhammad A. Usmani, Lu Wang, Maria Rodriguez Lopez, Frédéric Fischer, Annette Seibt, Servi J. C. Stevens, Matthew J. Jennings, Majdi Kara, Amelia Kirby, Hubert Dominique Becker, Kristin W. Barañano, Christopher S. Francklyn, Saima Riazuddin, Rasim Ozgur Rosti, Emer O'Connor, Yalda Jamshidi, Barbara Oehl-Jaschkowitz, Ricardo Harripaul, Anne Marie Jelsig, Anna Sarkozy, Indran Davagnanam, Zubair M. Ahmed, David A. Koolen, Joseph G. Gleeson, Heinz Gabriel, Alkyoni Athanasiou-Fragkouli, Muhammad Ayub, Alejandro Horga, Conny van Ravenwaaij, Bruno Senger, Ingrid M. Wentzensen
Publikováno v:
American Journal of Human Genetics, 107, 2, pp. 311-324
American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
American journal of human genetics, 107(2), 311-324. Cell Press
American Journal of Human Genetics, 107, 311-324
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
American Journal of Human Genetics, 107(2), 311-324. Cell Press
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016
Am J Hum Genet
American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
American journal of human genetics, 107(2), 311-324. Cell Press
American Journal of Human Genetics, 107, 311-324
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
American Journal of Human Genetics, 107(2), 311-324. Cell Press
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016
Am J Hum Genet
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neu