Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Anja E. Pen"'
Autor:
Akira Asai, I. Jolanda M. de Vries, Dagmar Verweij, Gerrit K. J. Hooijer, Hanneke W. M. van Laarhoven, Johan H. J. M. van Krieken, Anja E. Pen, Stanleyson V. Hato, Susumu Takahashi, W. Joost Lesterhuis, Kalijn F. Bol, Nienke de Haas, Yukie Inoue, Angela Vasaturo, Altuna Halilovic, Johannes H.A.M. Kaanders, Carla M.L. van Herpen, Cornelis J. A. Punt, Carl G. Figdor
Publikováno v:
Oncotarget, 8, 33, pp. 54434-54443
Oncotarget
Oncotarget, 8(33), 54434-54443. Impact Journals
Oncotarget, 8, 54434-54443
Oncotarget
Oncotarget, 8(33), 54434-54443. Impact Journals
Oncotarget, 8, 54434-54443
// Stanleyson V. Hato 1 , Carl G. Figdor 1 , Susumu Takahashi 5 , Anja E. Pen 1 , Altuna Halilovic 2 , Kalijn F. Bol 1, 3 , Angela Vasaturo 1 , Yukie Inoue 5 , Nienke de Haas 1 , Dagmar Verweij 2 , Carla M.L. Van Herpen 3 , Johannes H. Kaanders 4 , J
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0ce4bf577dba4aba5bbd43a9108bae6
https://doi.org/10.18632/oncotarget.17661
https://doi.org/10.18632/oncotarget.17661
Autor:
Niamh L. O'Brien, Andrew McQuillin, Mette Nyegaard, Ole Mors, N H Staunstrup, Ditte Demontis, Jakob Grove, Alex Jarram, Thomas Damm Als, Anna Starnawska, Anne Hedemand, Anja E. Pen, Anders Lade Nielsen, Anders D. Børglum
Publikováno v:
Translational Psychiatry
Starnawska, A, Demontis, D, Pen, A, Hedemand, A, Nielsen, A L, Staunstrup, N H, Grove, J, Als, T D, Jarram, A, O'Brien, N L, Mors, O, McQuillin, A, Børglum, A D & Nyegaard, M 2016, ' CACNA1C hypermethylation is associated with bipolar disorder ', Translational Psychiatry, vol. 6, no. 6, pp. e831 . https://doi.org/10.1038/tp.2016.99
Starnawska, A, Demontis, D, Pen, A, Hedemand, A, Nielsen, A L, Staunstrup, N H, Grove, J, Als, T D, Jarram, A, O'Brien, N L, Mors, O, McQuillin, A, Børglum, A D & Nyegaard, M 2016, ' CACNA1C hypermethylation is associated with bipolar disorder ', Translational Psychiatry, vol. 6, no. 6, pp. e831 . https://doi.org/10.1038/tp.2016.99
The CACNA1C gene, encoding a subunit of the L-type voltage-gated calcium channel is one of the best-supported susceptibility genes for bipolar disorder (BD). Genome-wide association studies have identified a cluster of non-coding single-nucleotide po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58e23a2713f7b4c1a2bbd2151f36d99f
https://pubmed.ncbi.nlm.nih.gov/27271857
https://pubmed.ncbi.nlm.nih.gov/27271857
Autor:
Anja E. Pen, Benedicte Parm Ulhøi, Rikke Christensen, Mingyan Fang, John R. Østergaard, Henning Andersen, Xiuqing Zhang, Signe Vaeth, Arjan P.M. de Brouwer, Uffe Birk Jensen, Hui Jiang, Mette Sommerlund, Mette Nyegaard, Henning Mølgaard
Publikováno v:
Pen, A E, Nyegaard, M, Fang, M, Jiang, H, Christensen, R, Mølgaard, H, Andersen, H, Ulhøi, B P, Østergaard, J R, Væth, S, Sommerlund, M, de Brouwer, A P M, Zhang, X & Jensen, U B 2015, ' A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology ', European Journal of Medical Genetics, vol. 58, no. 4, pp. 222-229 . https://doi.org/10.1016/j.ejmg.2015.02.003
Pen, A, Nyegaard, M, Fang, M, Jiang, H, Christensen, R, Mølgaard, H, Andersen, H, Ulhøi, B P, Østergaard, J R, Væth, S, Sommerlund, M, de Brouwer, A P M, Zhang, X & Jensen, U B 2015, ' A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology ', ESHG 2015, Glasgow, United Kingdom, 06/06/2015-09/07/2015 .
European Journal of Medical Genetics, 58, 222-9
European Journal of Medical Genetics, 58, 4, pp. 222-9
Pen, A, Nyegaard, M, Fang, M, Jiang, H, Christensen, R, Mølgaard, H, Andersen, H, Ulhøi, B P, Østergaard, J R, Væth, S, Sommerlund, M, de Brouwer, A P M, Zhang, X & Jensen, U B 2015, ' A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology ', ESHG 2015, Glasgow, United Kingdom, 06/06/2015-09/07/2015 .
European Journal of Medical Genetics, 58, 222-9
European Journal of Medical Genetics, 58, 4, pp. 222-9
Item does not contain fulltext We describe a Danish family with an, until recently, unknown X-linked disease with muscular dystrophy (MD), facial dysmorphology and pulmonary artery hypoplasia. One patient died suddenly before age 20 and another was r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da2f5a78204d2d4256a83ded4872ca16
https://pure.au.dk/portal/da/publications/a-novel-single-nucleotide-splice-site-mutation-in-fhl1-confirms-an-emerydreifuss-plus-phenotype-with-pulmonary-artery-hypoplasia-and-facial-dysmorphology(317d78f3-7118-447a-ac9a-d6c58891d495).html
https://pure.au.dk/portal/da/publications/a-novel-single-nucleotide-splice-site-mutation-in-fhl1-confirms-an-emerydreifuss-plus-phenotype-with-pulmonary-artery-hypoplasia-and-facial-dysmorphology(317d78f3-7118-447a-ac9a-d6c58891d495).html