Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Helle Lybæk"'
Autor:
Bjarte Håvik, Franziska A Degenhardt, Stefan Johansson, Carla P D Fernandes, Anke Hinney, André Scherag, Helle Lybæk, Srdjan Djurovic, Andrea Christoforou, Kari M Ersland, Sudheer Giddaluru, Michael C O'Donovan, Michael J Owen, Nick Craddock, Thomas W Mühleisen, Manuel Mattheisen, Benno G Schimmelmann, Tobias Renner, Andreas Warnke, Beate Herpertz-Dahlmann, Judith Sinzig, Özgür Albayrak, Marcella Rietschel, Markus M Nöthen, Clive R Bramham, Thomas Werge, Johannes Hebebrand, Jan Haavik, Ole A Andreassen, Sven Cichon, Vidar M Steen, Stéphanie Le Hellard
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e35424 (2012)
Doublecortin and calmodulin like kinase 1 (DCLK1) is implicated in synaptic plasticity and neurodevelopment. Genetic variants in DCLK1 are associated with cognitive traits, specifically verbal memory and general cognition. We investigated the role of
Externí odkaz:
https://doaj.org/article/1e9c72c4001d4992b35c0bcc3e363b3c
Autor:
Helle Lybæk, Michael Robson, Nicole Leeuw, Jayne Y. Hehir‐Kwa, Aaron Jeffries, Bjørn Ivar Haukanes, Siren Berland, Diederik Bruijn, Stefan Mundlos, Malte Spielmann, Gunnar Houge
Publikováno v:
Autism Research
Autism Research, 15, 421-433
Autism Research, 15, 3, pp. 421-433
Autism Research, 15, 421-433
Autism Research, 15, 3, pp. 421-433
Contains fulltext : 248379.pdf (Publisher’s version ) (Open Access) LRFN5 is a regulator of synaptic development and the only gene in a 5.4 Mb mammalian-specific conserved topologically associating domain (TAD); the LRFN5 locus. An association betw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79bd69eded6ad47ff2357a8de87088ab
https://doi.org/10.1002/aur.2677
https://doi.org/10.1002/aur.2677
Autor:
Malte Spielmann, Michael I. Robson, Diederik R.H. de Bruijn, Bjørn Ivar Haukanes, Gunnar Houge, Siren Berland, Aaron Jeffries, Stefan Mundlos, Nicole de Leeuw, Jayne Y. Hehir-Kwa, Helle Lybæk
BackgroundLRFN5 is a brain-specific gene needed for synaptic development and plasticity. It is the only gene in a large 5.4 Mb topologically associating domain (TAD) on chromosome 14, which we term the LRFN5 locus. This locus is highly conserved, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50730dbd07e8b8145e6d4f6cb2156df5
https://doi.org/10.21203/rs.3.rs-895724/v1
https://doi.org/10.21203/rs.3.rs-895724/v1
Autor:
Atle Brendehaug, Darya P. Vanichkina, Chirag Nepal, Helle Lybæk, Anke H A den Engelsman-van Dijk, Gunnar Houge, Diederik R.H. de Bruijn
Publikováno v:
Epigenetics
It was recently shown that duplications of the RevSex element, located 0.5 Mb upstream of SOX9, cause XX-disorder of sex development (DSD), and that deletions cause XY-DSD. To explore how a 148 kb RevSex duplication could have turned on gonadal SOX9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c195e79914e9e5d09a2f3e33bbf170ab
https://doi.org/10.4161/epi.27474
https://doi.org/10.4161/epi.27474
Autor:
Ingrid Melle, Vidar M. Steen, Thomas G. Schulze, Markus M. Nöthen, Srdjan Djurovic, Lutz Priebe, Thomas Hansen, Helle Lybæk, Marcella Rietschel, Ole A. Andreassen, Sven Cichon, Thomas Werge, René Breuer, Bjarte Håvik, Beth Stevens, Clive R. Bramham, Thomas W. Mühleisen, Franziska Degenhardt, Wolfgang Maier, Stephanie Le Hellard, Manuel Mattheisen, Ingrid Agartz
Publikováno v:
Biological Psychiatry. 70:35-42
Background Patients with schizophrenia often suffer from cognitive dysfunction, including impaired learning and memory. We recently demonstrated that long-term potentiation in rat hippocampus, a mechanistic model of learning and memory, is linked to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d4e7452f5b3cc102384d6093f941b94
https://doi.org/10.1016/j.biopsych.2011.01.030
https://doi.org/10.1016/j.biopsych.2011.01.030
Autor:
Helle Lybæk, Doriana Misceo, Karen Helene Ørstavik, Gunnar Houge, Eirik Frengen, Inger Sandvig, Eli Ormerod
Publikováno v:
American Journal of Medical Genetics Part A. :2877-2881
Inheritance of a Terminal 7.1 Mb 18p Deletion Flanked by a 2.3 Mb Duplication From a Physically Normal Mother Doriana Misceo, Karen Helene Orstavik, Helle Lybaek, Inger Sandvig, Eli Ormerod, Gunnar Houge, and Eirik Frengen* Faculty of Medicine, Insti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d994c73d7834b1eb59801be54792c9cb
https://doi.org/10.1002/ajmg.a.33106
https://doi.org/10.1002/ajmg.a.33106
Autor:
Gunnar Houge, Harald Breilid, Christine Stansberg, Vidar M. Steen, Karen Helene Ørstavik, Trine Prescott, Helle Lybæk, Randi Hovland
Publikováno v:
European Journal of Human Genetics. 17:904-910
In a 2 and a half-year-old girl with onset of puberty before the age of 5 months, short stature, hand anomalies and severe mental retardation, an 8.9 Mb interstitial 19p13 duplication containing 215 predicted genes was detected. It was initially assu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ededbe1432544ce43d88d829ab173e
https://doi.org/10.1038/ejhg.2008.261
https://doi.org/10.1038/ejhg.2008.261
Publikováno v:
American Journal of Medical Genetics Part A. :1092-1097
A woman with apparent 45,X Ullrich-Turner syndrome was ascertained after the birth of three girls, the last being growth retarded due to a del(X)(p22.11) of grand-paternal origin. In this woman no del(X)-chromosome was detectable in blood by FISH or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d83b15a68e66ec71a7b9954cdd7bf6d9
https://doi.org/10.1002/ajmg.a.31204
https://doi.org/10.1002/ajmg.a.31204
Publikováno v:
Cancer Genetics and Cytogenetics. 162:38-44
Using comparative genomic hybridization (CGH), array CGH, fluorescence in situ hybridization, and loss of heterozygosity analysis, we examined a recurrent solitary fibrous tumor of the orbit for chromosomal imbalances. In the primary tumor, loss of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f6f693fae5722fcf7344700a8b8830
https://doi.org/10.1016/j.cancergencyto.2005.01.014
https://doi.org/10.1016/j.cancergencyto.2005.01.014
Publikováno v:
Acta Ophthalmologica Scandinavica. 83:385-391
Purpose: To examine benign orbital tumours for chromosomal imbalances. Methods: Specimens obtained from orbital tumours were screened for chromosomal imbalances using high resolution comparative genomic hybridization (CGH). The imbalances detected by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a31c4d409601737ca70d1e917f0c01c
https://doi.org/10.1111/j.1600-0420.2005.00460.x
https://doi.org/10.1111/j.1600-0420.2005.00460.x