Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Elin Tønne"'
Autor:
Elin Tønne, Bernt Johan Due‐Tønnessen, Magnus Dehli Vigeland, Silja Svanstrøm Amundsen, Teodora Ribarska, Pamela Marika Åsten, Ying Sheng, Eirik Helseth, Gregor Duncan Gilfillan, Inger‐Lise Mero, Ketil Riddervold Heimdal
Craniosynostosis (CS) is a common congenital anomaly defined by premature fusion of one or more cranial sutures. Syndromic CS involves additional organ anomalies or neurocognitive deficits and accounts for 25%-30% of the cases. In a recent population
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4771a7f65c1358b3fff924d7a0469013
http://hdl.handle.net/10852/98515
http://hdl.handle.net/10852/98515
Autor:
Ian R. Berry, Martin R. Larsen, Ann M. Neumeyer, Lilian Bomme Ousager, Leah J. Rowe, Richard E. Person, Chanika Phornphutkul, David A. Koolen, Constance T. R. M. Stumpel, Konrad Platzer, Elizabeth J. Bhoj, Eric Chater-Diehl, Jason Bunn, Erika Leenders, Koen L.I. van Gassen, Joshua Charkow, Rosanna Weksberg, Ny Hoang, Roos Cuperus, Davor Lessel, Rolph Pfundt, Oana Caluseriu, Sarah J. Goodman, Leandra Folk, Fanggeng Zou, Michelle T. Siu, David Chitayat, Dmitrijs Rots, Jeroen R. Vermeulen, Shuxi Liu, Cheryl Cytrynbaum, Elin Tønne, Hein Brackel, Mareike Mertens, Jennifer Campbell, Jonathan B. Strober, Maja Hempel, Tjitske Kleefstra, Małgorzata J.M. Nowaczyk, Amy Crunk, Marta Pacio-Míguez, Fernando Santos-Simarro, Nicola Brunetti-Pierri, Christa de Geus, María Palomares-Bralo, Lisenka E.L.M. Vissers, Sander Pajusalu, Peter Kannu, Sanaa Choufani, Kristin Lindstrom, Margarita Saenz, Berkley Schmidt, Daniëlle G.M. Bosch, Han G. Brunner, Arie van Haeringen, Ellen van Binsbergen, Brianna Pruniski, Claudia A. L. Ruivenkamp, William G. Wilson, Servi J. C. Stevens, Susan Walker, Kristian Tveten, Zain Awamleh, Gerarda Cappuccio, Alexander J. M. Dingemans, Michael Kwint, Ebba Alkhunaizi, Jonas Denecke, Alyssa Ritter, Eric W. Klee, Bert B.A. de Vries, Jeske V.T. van Harssel, Stephen Meyn, A. Chantal Deden, Francisca Millan, Eva Morava, Ingrid M. Wentzensen, Anne Slavotinek, Stephen W. Scherer, Katrin Õunap, Tuula Rinne, Jessica A. Radley, Yili Xie, Thatjana Gardeitchik, Laura Schultz-Rogers, Karit Reinson, Ronald D. Cohn, Hui Yang
Publikováno v:
American journal of human genetics, vol 108, iss 6
American Journal of Human Genetics
American Journal of Human Genetics, 108, 1053-1068
American Journal of Human Genetics, 108, 6, pp. 1053-1068
American Journal of Human Genetics, 108(6), 1053-1068. CELL PRESS
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou, F, Millan, F, Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos-Simarro, F, Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D, Kannu, P, Alkhunaizi, E, Chitayat, D, Scherer, S W, Brunner, H G, Vissers, L E L M, Kleefstra, T, Koolen, D A & Weksberg, R 2021, ' Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1053-1068 . https://doi.org/10.1016/j.ajhg.2021.04.008
American Journal of Human Genetics, 108(6), 1053-1068. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 108, 1053-1068
American Journal of Human Genetics, 108, 6, pp. 1053-1068
American Journal of Human Genetics, 108(6), 1053-1068. CELL PRESS
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou, F, Millan, F, Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos-Simarro, F, Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D, Kannu, P, Alkhunaizi, E, Chitayat, D, Scherer, S W, Brunner, H G, Vissers, L E L M, Kleefstra, T, Koolen, D A & Weksberg, R 2021, ' Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1053-1068 . https://doi.org/10.1016/j.ajhg.2021.04.008
American Journal of Human Genetics, 108(6), 1053-1068. Cell Press
Contains fulltext : 234078.pdf (Publisher’s version ) (Open Access) Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627d030c3d4e791377a8f96b90170fc8
https://escholarship.org/uc/item/16q9g96p
https://escholarship.org/uc/item/16q9g96p
Autor:
Rhonda E. Schnur, Fabio Sirchia, Olga Levchenko, Caroline Nava, Jane Juusola, Sarah Verheyen, Marketa Vlckova, Lindsay Rhodes, Gregory M. Cooper, Darina Prchalova, Thomas Courtin, Øystein L. Holla, David Kronn, Akemi J. Tanaka, E. Martina Bebin, Tara Funari, Miroslava Hancarova, Ennio Del Giudice, Nicolas Guex, Astrid Eisenkölbl, Dawn L. Earl, Toshiki Takenouchi, Ursula Gruber-Sedlmayr, Sedlácek Z, Sofia Douzgou, Heidelis A. Seebacher, Gerarda Cappuccio, Jasmin Blatterer, Anna Mikhaleva, Dian Donnai, Wendy K. Chung, Else Merckoll, Natasha J Brown, Elizabeth A. Sellars, Stefan Mundlos, Susan M. Hiatt, Giuliana Giannuzzi, Sinje Geuer, Giuseppina Vitiello, Séverine Lorrain, Alexandre Reymond, David J. Amor, Nicolas Chatron, Julien Delafontaine, Martine Doco, Kristian Tveten, Cecilie F. Rustad, Sylvain Pradervand, Delphine Héron, Alfredo Brusco, Elena L. Dadali, Nicola Brunetti-Pierri, Boris Keren, Yuri A. Zarate, Crystle Lee, Joel Charrow, Binnaz Yalcin, Heidi Taska-Tench, Elin Tønne, Tomoko Uehara, Alexander Lavrov, Jennifer Norman, Norine Voisin, Anna C.E. Hurst, Victoria R. Sanders, Ganka Douglas, Diana Johnson, Kenjiro Kosaki
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108, pp.857-873. ⟨10.1016/j.ajhg.2021.04.001⟩
Am J Hum Genet
American Journal of Human Genetics, 2021, 108, pp.857-873. ⟨10.1016/j.ajhg.2021.04.001⟩
Am J Hum Genet
International audience; The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an auto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bdc2a9f1f9c07fc6b814c2617df3bcc
http://hdl.handle.net/2318/1789646
http://hdl.handle.net/2318/1789646
Autor:
Torstein R. Meling, Bernt J. Due-Tønnessen, Ketil Heimdal, Barbro Stadheim, Elin Tønne, Ulrikke Straume Wiig, Eirik Helseth
Publikováno v:
Journal of Neurosurgery: Pediatrics (2020) pp. 1-8
OBJECTIVEThe authors present population-based epidemiological data for craniosynostosis regarding incidence, age at diagnosis, sex differences, and frequency of syndromic and familial cases.METHODSThe prospective registry of the Norwegian National Un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0384e5949d4b425f0a4986c40d614f0
http://hdl.handle.net/10852/83042
http://hdl.handle.net/10852/83042
Autor:
David Kronn, Akemi J. Tanaka, Stefan Mundlos, Jennifer Norman, Crystle Lee, Delphine Héron, Elena L. Dadali, Anna Mikhaleva, Tomoko Uehara, Alexander Lavrov, Kenjiro Kosaki, Cecilie F. Rustad, Victoria R. Sanders, Heidi Taska-Tench, Ganka Douglas, Boris Keren, Nicolas Chatron, Ennio Del Giudice, E. Martina Bebin, Julien Delafontaine, Wendy K. Chung, Susan M. Hiatt, Olga Levchenko, Nicolas Guex, Jane Juusola, Tara Funari, Rhonda E. Schnur, Caroline Nava, Giuliana Giannuzzi, Binnaz Yalcin, Gregory M. Cooper, Dawn L. Earl, Sofia Douzgou, Kristian Tveten, Anna C.E. Hurst, Gerarda Cappuccio, Joel Charrow, Sinje Geuer, Alexandre Reymond, David J. Amor, Elin Tønne, Norine Voisin, Natasha J Brown, Alfredo Brusco, Dian Donnai, Giuseppina Vitiello, Sylvain Pradervand, Nicola Brunetti-Pierri, Else Merckoll, Fabio Sirchia, Toshiki Takenouchi, Øystein L. Holla
The ALF transcription factor paralogs,AFF1, AFF2, AFF3andAFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe a new autosomal dominant disorder a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdce7ca05307e1b5513c5cab9995b2e4
https://doi.org/10.1101/693937
https://doi.org/10.1101/693937
Autor:
Elin Tønne
Publikováno v:
Tidsskrift for Den norske legeforening.
Autor:
Kjersti Flatmark, Krystyna Kotanska Grøholt, Mariusz Adam Goscinski, Elin Tønne, Knut Håkon Hole, Truls Ryder
Publikováno v:
World Journal of Surgical Oncology
Background Abdominoperineal excision is performed in patients with locally advanced, low rectal carcinoma. Reconstruction of the dorsal vagina and perineum using the vertical rectus abdominis myocutaneous flap following extensive surgery results in f
Autor:
Torunn Fiskerstrand, Rita Holdhus, Han G. Brunner, Elin Tønne, Asbjørg Stray-Pedersen, Kjell Petersen, Alexander Hoischen, Christian Gilissen, Christine Stansberg, Vidar M. Steen, Trine Prescott
Publikováno v:
European Journal of Human Genetics, 23, 12, pp. 1652-6
European Journal of Human Genetics, 23, 1652-6
European Journal of Human Genetics, 23, 1652-6
Contains fulltext : 152770.pdf (Publisher’s version ) (Open Access) We describe a three-generation Norwegian family with a novel X-linked intellectual disability (XLID) syndrome characterized by subtle facial dysmorphism, autism and severe feeding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5294d0752f08371780618e1ab9d0027f
https://hdl.handle.net/2066/152770
https://hdl.handle.net/2066/152770