Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Kristina Pilekær Sørensen"'
Autor:
Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, DDD study, Sally Ann Lynch, Thomas Arnesen
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for ac
Externí odkaz:
https://doaj.org/article/93e5462b61b849f39b3bbe9118429fd6
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Autor:
Marjolaine Willems, Benjamin Durand, Boris Keren, Kristina Pilekær Sørensen, Rosanna Weksberg, Magalie Barth, Christina Fagerberg, Cyril Mignot, Laurence Perrin, Lucas Bronicki, Nathalie Drouot, Imene Boujelbene, Marc Abramowicz, Maria Kibaek, Bertrand Isidor, Thierry Bienvenu, Mathilde Nizon, Perrine Charles, Laurent Pasquier, Yann Herault, Marie Christine Birling, Bruno Delobel, Michel Guipponi, Lydie Burglen, Mélanie Fradin, Anne Sophie Denommé, Florence Demurger, Benjamin Cogné, Sébastien Moutton, Allan Bayat, Frederic Tran Mau Them, Christèle Dubourg, Alice Goldenberg, Christine Francannet, Jean-Louis Mandel, Laurence Faivre, Jérémie Courraud, Anne Marie Guerrot, Julia Metreau, Loréline Genschik, Bénédicte Demeer, Marie Vincent, Mathilde Renaud, Julien Thevenon, Sandrine Passemard, Christine Coubes, Amélie Piton, David Geneviève, Maria del Mar Muniz Moreno, Bénédicte Gérard, Estelle Colin, Valérie Layet, Michèle Mathieu-Dramard, Salima El Chehadeh, Katrine M Johannesen, Julie D. Thompson, Cathrine Elisabeth Tronhjem, Pascale Saugier, Elise Schaefer, Eric Chater-Diehl, Séverine Drunat, Rikke S. Møller, Paul Kuentz, Claire Feger, Albert David, Antonio Vitobello, Marlène Rio, Khaoula Khachnaoui, Joane Svane, Stéphane Auvin
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Courraud, J, Chater-Diehl, E, Durand, B, Vincent, M, del Mar Muniz Moreno, M, Boujelbene, I, Drouot, N, Genschik, L, Schaefer, E, Nizon, M, Gerard, B, Abramowicz, M, Cogné, B, Bronicki, L, Burglen, L, Barth, M, Charles, P, Colin, E, Coubes, C, David, A, Delobel, B, Demurger, F, Passemard, S, Denommé, A S, Faivre, L, Feger, C, Fradin, M, Francannet, C, Genevieve, D, Goldenberg, A, Guerrot, A M, Isidor, B, Johannesen, K M, Keren, B, Kibæk, M, Kuentz, P, Mathieu-Dramard, M, Demeer, B, Metreau, J, Steensbjerre Møller, R, Moutton, S, Pasquier, L, Pilekær Sørensen, K, Perrin, L, Renaud, M, Saugier, P, Rio, M, Svane, J, Thevenon, J, Tran Mau Them, F, Tronhjem, C E, Vitobello, A, Layet, V, Auvin, S, Khachnaoui, K, Birling, M C, Drunat, S, Bayat, A, Dubourg, C, El Chehadeh, S, Fagerberg, C, Mignot, C, Guipponi, M, Bienvenu, T, Herault, Y, Thompson, J, Willems, M, Mandel, J L, Weksberg, R & Piton, A 2021, ' Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder ', Genetics in Medicine, vol. 23, no. 11, pp. 2150-2159 . https://doi.org/10.1038/s41436-021-01263-1
Genetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Genetics in Medicine, Nature Publishing Group, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Courraud, J, Chater-Diehl, E, Durand, B, Vincent, M, del Mar Muniz Moreno, M, Boujelbene, I, Drouot, N, Genschik, L, Schaefer, E, Nizon, M, Gerard, B, Abramowicz, M, Cogné, B, Bronicki, L, Burglen, L, Barth, M, Charles, P, Colin, E, Coubes, C, David, A, Delobel, B, Demurger, F, Passemard, S, Denommé, A S, Faivre, L, Feger, C, Fradin, M, Francannet, C, Genevieve, D, Goldenberg, A, Guerrot, A M, Isidor, B, Johannesen, K M, Keren, B, Kibæk, M, Kuentz, P, Mathieu-Dramard, M, Demeer, B, Metreau, J, Steensbjerre Møller, R, Moutton, S, Pasquier, L, Pilekær Sørensen, K, Perrin, L, Renaud, M, Saugier, P, Rio, M, Svane, J, Thevenon, J, Tran Mau Them, F, Tronhjem, C E, Vitobello, A, Layet, V, Auvin, S, Khachnaoui, K, Birling, M C, Drunat, S, Bayat, A, Dubourg, C, El Chehadeh, S, Fagerberg, C, Mignot, C, Guipponi, M, Bienvenu, T, Herault, Y, Thompson, J, Willems, M, Mandel, J L, Weksberg, R & Piton, A 2021, ' Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder ', Genetics in Medicine, vol. 23, no. 11, pp. 2150-2159 . https://doi.org/10.1038/s41436-021-01263-1
Genetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Purpose: DYRK1A syndrome is among the most frequent monogenic forms of intellectual disability (ID). We refined the molecular and clinical description of this disorder and developed tools to improve interpretation of missense variants, which remains
Autor:
Thi T. N. Do, Kristina Pilekær Sørensen, Qihua Tan, Ines Block, Martin Jakob Larsen, Mark Burton, Mads Thomassen, Martin Bak, Torben A Kruse, Søren Cold
Publikováno v:
Do, T T N, Block, I, Burton, M, Sørensen, K P, Larsen, M J, Bak, M, Cold, S, Thomassen, M, Tan, Q & Kruse, T A 2021, ' Comparison of the Metastasis Predictive Potential of mRNA and Long Non-Coding RNA Profiling in Systemically Untreated Breast Cancer ', Cancers, vol. 13, no. 19, 4907 . https://doi.org/10.3390/cancers13194907
Cancers
Volume 13
Issue 19
Cancers, Vol 13, Iss 4907, p 4907 (2021)
Cancers
Volume 13
Issue 19
Cancers, Vol 13, Iss 4907, p 4907 (2021)
Several gene expression signatures based on mRNAs and a few based on long non-coding RNAs (lncRNAs) have been developed to provide prognostic information beyond clinical evaluation in breast cancer (BC). However, the comparison of such signatures for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dff943a1efa39632b7a3dc34e48e7352
https://findresearcher.sdu.dk:8443/ws/files/192574363/cancers_13_04907_v2.pdf
https://findresearcher.sdu.dk:8443/ws/files/192574363/cancers_13_04907_v2.pdf
Autor:
Morten Duno, Simran Kaur, Meral Topçu, Mette Rokkjaer, Karen Brøndum-Nielsen, Christalena Sofokleous, Lars Kjærsgaard Hansen, Zeynep Tümer, Nicole J Van Bergen, Eirini Tsoutsou, John Christodoulou, Martin Jakob Larsen, Anne-Marie Bisgaard, Bitten Schönewolf-Greulich, Kristina Pilekær Sørensen, Christina Fagerberg, Cathrine Jespersgaard
Publikováno v:
Schönewolf-Greulich, B, Bisgaard, A-M, Dunø, M, Jespersgaard, C, Rokkjaer, M, Hansen, L K, Tsoutsou, E, Sofokleous, C, Topcu, M, Kaur, S, Van Bergen, N J, Brøndum-Nielsen, K, Larsen, M J, Sørensen, K P, Christodoulou, J, Fagerberg, C R & Tümer, Z 2019, ' Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements ', Clinical Genetics, vol. 95, no. 3, pp. 403-408 . https://doi.org/10.1111/cge.13473
Schönewolf-Greulich, B, Bisgaard, A M, Dunø, M, Jespersgaard, C, Rokkjær, M, Hansen, L K, Tsoutsou, E, Sofokleous, C, Topcu, M, Kaur, S, Van Bergen, N J, Brøndum-Nielsen, K, Larsen, M J, Sørensen, K P, Christodoulou, J, Fagerberg, C R & Tümer, Z 2019, ' Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements ', Clinical Genetics, vol. 95, no. 3, pp. 403-408 . https://doi.org/10.1111/cge.13473
Schönewolf-Greulich, B, Bisgaard, A M, Dunø, M, Jespersgaard, C, Rokkjær, M, Hansen, L K, Tsoutsou, E, Sofokleous, C, Topcu, M, Kaur, S, Van Bergen, N J, Brøndum-Nielsen, K, Larsen, M J, Sørensen, K P, Christodoulou, J, Fagerberg, C R & Tümer, Z 2019, ' Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements ', Clinical Genetics, vol. 95, no. 3, pp. 403-408 . https://doi.org/10.1111/cge.13473
Rett syndrome is rarely suspected in males because of the X-linked dominant inheritance. In the literature, only six male patients have been reported with methyl-CpG-binding protein 2 (MECP2) mosaicism. Next-generation sequencing (NGS) methods have e
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Autor:
Anne-Sophie Denommé, Christine Francannet, Loréline Genschik, Claire Feger, Maria Kibaek, Imene Boujelbene, Paul Kuentz, Michel Guipponi, Marie-Christine Birling, Sébastien Moutton, Allan Bayat, Frederic Tran Mau Them, Mathilde Renaud, Joane Svane, Yann Herault, Sandrine Passemard, Christèle Dubourg, Mélanie Fradin, Marjolaine Willems, Julien Thevenon, Rosanna Weksberg, Bertrand Isidor, David Geneviève, Benjamin Cogné, Magalie Barth, Laurence Faivre, Jérémie Courraud, Boris Keren, Albert David, Laurence Perrin, Anne-Marie Guerrot, Christine Coubes, Thierry Bienvenu, Alice Goldenberg, Bénédicte Gérard, Amélie Piton, Lucas Bronicki, Julia Metreau, Mathilde Nizon, Elise Schaefer, Eric Chater-Diehl, Maria del Mar Muniz Moreno, Bruno Delobel, Katrine M Johannesen, Florence Demurger, Nathalie Drouot, Marie Vincent, Antonio Vitobello, Kristina Pilekær Sørensen, Christina Fagerberg, Cyril Mignot, Estelle Colin, Valérie Layet, Michèle Mathieu-Dramard, Jean-Louis Mandel, Cathrine Elisabeth Tronhjem, Benjamin Durand, Pascale Saugier, Séverine Drunat, Rikke S. Møller, Perrine Charles, Lydie Burglen, Bénédicte Demeer, Salima El Chehadeh, Marc Abramowicz, Laurent Pasquier, Julie D. Thompson
Publikováno v:
HAL
ABBSTRACTDYRK1A-related intellectual disability (ID) is among the most frequent monogenic form of ID. We refined the description of this disorder by reporting clinical and molecular data of forty individuals with ID harboringDYRK1Avariants. We develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::014f60eee301874a03e7998673eb7515
https://doi.org/10.1101/2021.01.20.21250155
https://doi.org/10.1101/2021.01.20.21250155
Autor:
Signe Sparre Beck-Nielsen, Hans Gjørup, Stine Westergaard Mathorne, Dorte Gilså Hansen, Kristina Pilekær Sørensen, Christina Fagerberg, Pernille Ravn
Publikováno v:
Mathorne, S W, Ravn, P, Hansen, D, Beck-Nielsen, S S, Gjørup, H, Sørensen, K P & Fagerberg, C R 2020, ' Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect ', Clinical Genetics, vol. 97, no. 5, pp. 779-784 . https://doi.org/10.1111/cge.13725
There is growing evidence that TP63 is associated with isolated as well as syndromic premature ovarian insufficiency (POI). We report two adolescent sisters diagnosed with undetectable ovaries, uterine hypoplasia, and mammary gland hypoplasia. A nove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3dac241d74c3932184045c528b4d317
https://findresearcher.sdu.dk:8443/ws/files/170028070/Novel_phenotype_of_syndromic_premature_ovarian_insufficiency.pdf
https://findresearcher.sdu.dk:8443/ws/files/170028070/Novel_phenotype_of_syndromic_premature_ovarian_insufficiency.pdf
Autor:
Hans Gjørup, Kristina Pilekær Sørensen, Stine Westergaard Mathorne, Christina Fagerberg, Pernille Ravn, Dorte Gilså Hansen, Signe Sparre Beck-Nielsen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e2e8c5c06368500af19b1ef227ab3d6
https://doi.org/10.1111/cge.13725/v3/response1
https://doi.org/10.1111/cge.13725/v3/response1
Autor:
Alonso, Cárdenas-de-la-Parra, Sandra, Martin-Brevet, Clara, Moreau, Borja, Rodriguez-Herreros, Vladimir, S Fonov, Anne, M Maillard, Nicole, R Zürcher, 2 European Consortium, 16p11., Nouchine Hadjikhani 48, Jacques, S Beckmann 49, Alexandre Reymond 50, Bogdan Draganski 51, Sébastien Jacquemont 52, D Louis Collins 1, Marie-Claude Addor, 7, Joris Andrieux, 8, Benoît Arveiler, 9, Geneviève Baujatm 10, Frédérique Sloan-Bénan 11, Marco, Belfiore, Dominique Bonneau 12, Sonia Bouquillon 13, Odile Boute 14, Brusco, Alfredo, Tiffany Busa 16, Jean-Hubert Caberg 17, Dominique Campion 18, Vanessa Colombert 19, Marie-Pierre Cordier 20, Albert David 21, François-Guillaume Debray 22, Marie-Ange Delrue 23, Martine Doco-Fenzy 24, Ulrike Dunkhase-Heinl 25, Patrick Edery 20, Christina Fagerberg 26, Laurence Faivre 27, Francesca, Forzano, David Genevieve 29, Marion Gérard 30, Giachino, Daniela Francesca, Agnès Guichet 32, Olivier Guillin 33, Delphine Héron 34, Bertrand Isidor 21, Aurélia Jacquette 34, Sylvie Jaillard 35, Hubert Journel 19, Boris Keren 36, Didier Lacombe, 9, Sébastien Lebon 37, Cédric Le Caignec 38, Marie-Pierre Lemaître 39, James Lespinasse 40, Michèle Mathieu-Dramart 41, Sandra Mercier 21, Cyril Mignot 34, Chantal Missirian 16, Florence Petit 42, Kristina Pilekær Sørensen 26, Lucile Pinson 29, Ghislaine Plessis 30, Fabienne Prieur 43, Caroline Rooryck-Thambo 44, Rossi, Massimiliano, Damien Sanlaville 45, Britta Schlott Kristiansen 26, Caroline Schluth-Bolard 45, Marianne Till 20, Mieke Van Haelst 46, Lionel Van Maldergem
Publikováno v:
NeuroImage
NeuroImage, Elsevier, 2019, 203, pp.116155. ⟨10.1016/j.neuroimage.2019.116155⟩
Cárdenas-de-la-Parra, A, Martin-Brevet, S, Moreau, C, Rodriguez-Herreros, B, Fonov, V S, Maillard, A M, Zürcher, N R, Marie-Claude, A, Joris, A, Benoît, A, Geneviève, B, Frédérique, S B, Marco, B, Dominique, B, Sonia, B, Odile, B, Alfredo, B, Tiffany, B, Jean-Hubert, C, Dominique, C, Vanessa, C, Marie-Pierre, C, Albert, D, François-Guillaume, D, Marie-Ange, D, Martine, D F, Dunkhase Heinl, U, Patrick, E, Fagerberg, C, Laurence, F, Francesca, F, David, G, Marion, G, Daniela, G, Agnès, G, Olivier, G, Delphine, H, Bertrand, I, Aurélia, J, Sylvie, J, Hubert, J, Boris, K, Didier, L, Sébastien, L, Cédric, L C, Marie-Pierre, L, James, L, Michèle, M D, Sandra, M, Cyril, M, Sørensen, K P, Kristiansen, B S & 16p11.2 European Consortium 2019, ' Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations ', NeuroImage, vol. 203, 116155 . https://doi.org/10.1016/j.neuroimage.2019.116155
NeuroImage, Elsevier, 2019, 203, pp.116155. ⟨10.1016/j.neuroimage.2019.116155⟩
Cárdenas-de-la-Parra, A, Martin-Brevet, S, Moreau, C, Rodriguez-Herreros, B, Fonov, V S, Maillard, A M, Zürcher, N R, Marie-Claude, A, Joris, A, Benoît, A, Geneviève, B, Frédérique, S B, Marco, B, Dominique, B, Sonia, B, Odile, B, Alfredo, B, Tiffany, B, Jean-Hubert, C, Dominique, C, Vanessa, C, Marie-Pierre, C, Albert, D, François-Guillaume, D, Marie-Ange, D, Martine, D F, Dunkhase Heinl, U, Patrick, E, Fagerberg, C, Laurence, F, Francesca, F, David, G, Marion, G, Daniela, G, Agnès, G, Olivier, G, Delphine, H, Bertrand, I, Aurélia, J, Sylvie, J, Hubert, J, Boris, K, Didier, L, Sébastien, L, Cédric, L C, Marie-Pierre, L, James, L, Michèle, M D, Sandra, M, Cyril, M, Sørensen, K P, Kristiansen, B S & 16p11.2 European Consortium 2019, ' Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations ', NeuroImage, vol. 203, 116155 . https://doi.org/10.1016/j.neuroimage.2019.116155
Most of human genome is present in two copies (maternal and paternal). However, segments of the genome can be deleted or duplicated, and many of these genomic variations (known as Copy Number Variants) are associated with psychiatric disorders. 16p11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f87712d699d3cb30d4c21f4253668c8
https://hal.archives-ouvertes.fr/hal-02441775
https://hal.archives-ouvertes.fr/hal-02441775
Autor:
Alaa Afif Mohammed, Yong-hui Jiang, Thalia Antoniadi, Cynthia J. Curry, Celia Zazo Seco, Dorine Bax, Slavé Petrovski, Samuel J.H. Clokie, Vandana Shashi, Stephen W. Wilson, Dianne Gerrelli, Nicola K. Ragge, Marco Tartaglia, Nicolas Chassaing, Andrea Ciolfi, Marleen Simon, Bruce D. Gelb, Helle Andersen, Zöe Powis, Patrick Calvas, Jennifer A. Sullivan, Fabiola Ceroni, Constance Smith-Hicks, Emanuele Bellacchio, Kristina Pilekær Sørensen, Rodrigo M. Young, Christina Fagerberg, Alessandro De Luca, Ellen van Binsbergen, Luigi Memo, William B. Dobyns, Anna Chassevent, Berta Crespo, Richard J. Holt
Publikováno v:
Holt, R J, Young, R M, Crespo, B, Ceroni, F, Curry, C J, Bellacchio, E, Bax, D A, Ciolfi, A, Simon, M, Fagerberg, C R, van Binsbergen, E, De Luca, A, Memo, L, Dobyns, W B, Mohammed, A A, Clokie, S J H, Zazo Seco, C, Jiang, Y H, Sørensen, K P, Andersen, H, Sullivan, J, Powis, Z, Chassevent, A, Smith-Hicks, C, Petrovski, S, Antoniadi, T, Shashi, V, Gelb, B D, Wilson, S W, Gerrelli, D, Tartaglia, M, Chassaing, N, Calvas, P & Ragge, N K 2019, ' De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies ', American Journal of Human Genetics, vol. 105, no. 3, pp. 640-657 . https://doi.org/10.1016/j.ajhg.2019.07.005
American Journal of Human Genetics
American Journal of Human Genetics
The identification of genetic variants implicated in human developmental disorders has been revolutionized by second-generation sequencing combined with international pooling of cases. Here, we describe seven individuals who have diverse yet overlapp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ac6035c7582657339b72496940ad80
https://findresearcher.sdu.dk:8443/ws/files/153983581/De_Novo_Missense_Variants_in_FBXW11_Cause_Diverse_Developmental_Phenotypes_Including_Brain_Eye_and_Digit_Anomalies.pdf
https://findresearcher.sdu.dk:8443/ws/files/153983581/De_Novo_Missense_Variants_in_FBXW11_Cause_Diverse_Developmental_Phenotypes_Including_Brain_Eye_and_Digit_Anomalies.pdf
Autor:
Sally Ann Lynch, Anni Sofie Geithus, Mads Damkjær, Rasmus Ree, Kristina Pilekær Sørensen, Pernille Mathiesen Tørring, Thomas Arnesen
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Ree, R, Geithus, A S, Tørring, P M, Sørensen, K P, Damkjær, M, Lynch, S A & Arnesen, T 2019, ' A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly ', BMC Medical Genetics, vol. 20, 101 . https://doi.org/10.1186/s12881-019-0803-1
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Ree, R, Geithus, A S, Tørring, P M, Sørensen, K P, Damkjær, M, Lynch, S A & Arnesen, T 2019, ' A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly ', BMC Medical Genetics, vol. 20, 101 . https://doi.org/10.1186/s12881-019-0803-1
Background N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3436796fba6081b02618c67e6e8822aa
https://hdl.handle.net/1956/21923
https://hdl.handle.net/1956/21923