Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Inger Jonasson"'
Autor:
Ayşe Demirkan, Cornelia M van Duijn, Peter Ugocsai, Aaron Isaacs, Peter P Pramstaller, Gerhard Liebisch, James F Wilson, Åsa Johansson, Igor Rudan, Yurii S Aulchenko, Anatoly V Kirichenko, A Cecile J W Janssens, Ritsert C Jansen, Carsten Gnewuch, Francisco S Domingues, Cristian Pattaro, Sarah H Wild, Inger Jonasson, Ozren Polasek, Irina V Zorkoltseva, Albert Hofman, Lennart C Karssen, Maksim Struchalin, James Floyd, Wilmar Igl, Zrinka Biloglav, Linda Broer, Arne Pfeufer, Irene Pichler, Susan Campbell, Ghazal Zaboli, Ivana Kolcic, Fernando Rivadeneira, Jennifer Huffman, Nicholas D Hastie, Andre Uitterlinden, Lude Franke, Christopher S Franklin, Veronique Vitart, DIAGRAM Consortium, Christopher P Nelson, Michael Preuss, CARDIoGRAM Consortium, Joshua C Bis, Christopher J O'Donnell, Nora Franceschini, CHARGE Consortium, Jacqueline C M Witteman, Tatiana Axenovich, Ben A Oostra, Thomas Meitinger, Andrew A Hicks, Caroline Hayward, Alan F Wright, Ulf Gyllensten, Harry Campbell, Gerd Schmitz, EUROSPAN consortium
Publikováno v:
PLoS Genetics, Vol 8, Iss 2, p e1002490 (2012)
Phospho- and sphingolipids are crucial cellular and intracellular compounds. These lipids are required for active transport, a number of enzymatic processes, membrane formation, and cell signalling. Disruption of their metabolism leads to several dis
Externí odkaz:
https://doaj.org/article/1056cf3c6b034729babb9ff6cf53a034
Autor:
Andrew A Hicks, Peter P Pramstaller, Asa Johansson, Veronique Vitart, Igor Rudan, Peter Ugocsai, Yurii Aulchenko, Christopher S Franklin, Gerhard Liebisch, Jeanette Erdmann, Inger Jonasson, Irina V Zorkoltseva, Cristian Pattaro, Caroline Hayward, Aaron Isaacs, Christian Hengstenberg, Susan Campbell, Carsten Gnewuch, A Cecilej W Janssens, Anatoly V Kirichenko, Inke R König, Fabio Marroni, Ozren Polasek, Ayse Demirkan, Ivana Kolcic, Christine Schwienbacher, Wilmar Igl, Zrinka Biloglav, Jacqueline C M Witteman, Irene Pichler, Ghazal Zaboli, Tatiana I Axenovich, Annette Peters, Stefan Schreiber, H-Erich Wichmann, Heribert Schunkert, Nick Hastie, Ben A Oostra, Sarah H Wild, Thomas Meitinger, Ulf Gyllensten, Cornelia M van Duijn, James F Wilson, Alan Wright, Gerd Schmitz, Harry Campbell
Publikováno v:
PLoS Genetics, Vol 5, Iss 10, p e1000672 (2009)
Sphingolipids have essential roles as structural components of cell membranes and in cell signalling, and disruption of their metabolism causes several diseases, with diverse neurological, psychiatric, and metabolic consequences. Increasingly, varian
Externí odkaz:
https://doaj.org/article/630ba93c59ca4f4f8f8c46c77baec03e
Publikováno v:
PLoS ONE, Vol 4, Iss 2, p e4464 (2009)
Mutations in the gene for growth hormone releasing hormone receptor (GHRHR) cause isolated growth hormone deficiency (IGHD) but this gene has not been found to affect normal variation in height. We performed a whole genome linkage analysis for height
Externí odkaz:
https://doaj.org/article/c57568ea5d3d4b138d0635f6c9010b12
Autor:
Melissa Smith, Adam Ameur, Yu-Chih Tsai, Tyson A. Clark, Vanessa C. Wheeler, Jonas Korlach, Ida Höijer, David Greenberg, Robert Sebra, Ethan Ellis, Inger Jonasson, Maya Strahl, James R. Powell, Ricardo Mouro Pinto, Ulf Gyllensten
Targeted sequencing has proven to be an economical means of obtaining sequence information for one or more defined regions of a larger genome. However, most target enrichment methods require amplification. Some genomic regions, such as those with ext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0378374fb575d09eea18e5b74957a687
https://doi.org/10.1101/203919
https://doi.org/10.1101/203919
Autor:
Adam, Ameur, Johan, Dahlberg, Pall, Olason, Francesco, Vezzi, Robert, Karlsson, Marcel, Martin, Johan, Viklund, Andreas Kusalananda, Kähäri, Pär, Lundin, Huiwen, Che, Jessada, Thutkawkorapin, Jesper, Eisfeldt, Samuel, Lampa, Mats, Dahlberg, Jonas, Hagberg, Niclas, Jareborg, Ulrika, Liljedahl, Inger, Jonasson, Åsa, Johansson, Lars, Feuk, Joakim, Lundeberg, Ann-Christine, Syvänen, Sverker, Lundin, Daniel, Nilsson, Björn, Nystedt, Patrik Ke, Magnusson, Ulf, Gyllensten
Publikováno v:
European Journal of Human Genetics
Here we describe the SweGen data set, a comprehensive map of genetic variation in the Swedish population. These data represent a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing inform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2ee8ecbefd3131d09e458c12a1857c9c
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-337314
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-337314
Autor:
Daniel Nilsson, Adam Ameur, Pall I. Olason, Pär Lundin, Jonas Hagberg, Rose-Marie Karlsson, Åsa Johansson, Sverker Lundin, Björn Nystedt, Patrik K. E. Magnusson, Johan Dahlberg, Niclas Jareborg, Andreas Kähäri, Jessada Thutkawkorapin, Johan Viklund, Inger Jonasson, Francesco Vezzi, Huiwen Che, Ulf Gyllensten, Mats Dahlberg
Here we describe the SweGen dataset, a high-quality map of genetic variation in the Swedish population. This data represents a basic resource for clinical genetics laboratories as well as for sequencing-based association studies, by providing informa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3565baf910c2e5488d181e543ad650
Autor:
Isabel Fineza Cruz, Sofia Esteves, Ann-Christine Syvänen, Patrícia Maciel, Joaquim Sá, Dalila Pinto, Teresa Temudo, Ana I. Dias, José Pedro Vieira, Adam Ameur, Fátima Lopes, Sascha Sauer, Mafalda Barbosa, Inger Jonasson, Ulf Gyllensten, Gabriela Soares, Guiomar Oliveira, Pedro Cabral, Renata Nunes Oliveira, Eulália Calado
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Background The aim of this work was to identify new genetic causes of Rett-like phenotypes using array comparative genomic hybridisation and a whole exome sequencing approach. Methods and results We studied a cohort of 19 Portuguese patients (16 girl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7141d8bc691f2adae9e4a4c35fac88
https://hdl.handle.net/1822/45131
https://hdl.handle.net/1822/45131
Autor:
Andrew A. Hicks, Irina V. Zorkoltseva, Christopher S. Franklin, Thomas Meitinger, Michael Preuss, Cristian Pattaro, Lennart C. Karssen, Veronique Vitart, Sarah H. Wild, Fernando Rivadeneira, Åsa Johansson, James F. Wilson, Anatoly V. Kirichenko, Ghazal Zaboli, Ozren Polasek, Wilmar Igl, Tatiana I. Axenovich, Christopher J. O'Donnell, Jacqueline C. M. Witteman, James A B Floyd, Linda Broer, Arne Pfeufer, Lude Franke, Igor Rudan, Zrinka Biloglav, Christopher P. Nelson, Nora Franceschini, Ivana Kolcic, Aaron Isaacs, Yurii S. Aulchenko, Harry Campbell, Nicholas D. Hastie, Cornelia M. van Duijn, Ritsert C. Jansen, Irene Pichler, Alan F. Wright, Caroline Hayward, Albert Hofman, Ben A. Oostra, Jennifer E. Huffman, Ulf Gyllensten, Gerd Schmitz, Carsten Gnewuch, Inger Jonasson, Francisco S. Domingues, Ayse Demirkan, André G. Uitterlinden, Gerhard Liebisch, A. Cecile J.W. Janssens, Peter Ugocsai, Peter P. Pramstaller, Joshua C. Bis, Susan Campbell, Maksim Struchalin
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 8, Iss 2, p e1002490 (2012)
PLoS Genetics (print), 8(2). Public Library of Science
Plos Genetics, 8(2). Public Library of Science
PLoS genetics, 8(2):e1002490. PUBLIC LIBRARY SCIENCE
Demirkan, A, van Duijn, C M, Ugocsai, P, Isaacs, A, Pramstaller, P P, Liebisch, G, Wilson, J F, Johansson, Å, Rudan, I, Aulchenko, Y S, Kirichenko, A V, Janssens, A C J W, Jansen, R C, Gnewuch, C, Domingues, F S, Pattaro, C, Wild, S H, Jonasson, I, Polasek, O, Zorkoltseva, I V, Hofman, A, Karssen, L C, Struchalin, M, Floyd, J, Igl, W, Biloglav, Z, Broer, L, Pfeufer, A, Pichler, I, Campbell, S, Zaboli, G, Kolcic, I, Rivadeneira, F, Huffman, J, Hastie, N D, Uitterlinden, A, Franke, L, Franklin, C S, Vitart, V, Nelson, C P, Preuss, M, Bis, J C, O'Donnell, C J, Franceschini, N, Witteman, J C M, Axenovich, T, Oostra, B A, Hayward, C & Wright, A F & Campbell, H 2012, ' Genome-wide association study identifies novel loci associated with circulating phospho-and sphingolipid concentrations ', PLoS Genetics, vol. 8, no. 2, pp. e1002490 . https://doi.org/10.1371/journal.pgen.1002490
PLoS Genetics; Vol 8
PLoS Genetics, Vol 8, Iss 2, p e1002490 (2012)
PLoS Genetics (print), 8(2). Public Library of Science
Plos Genetics, 8(2). Public Library of Science
PLoS genetics, 8(2):e1002490. PUBLIC LIBRARY SCIENCE
Demirkan, A, van Duijn, C M, Ugocsai, P, Isaacs, A, Pramstaller, P P, Liebisch, G, Wilson, J F, Johansson, Å, Rudan, I, Aulchenko, Y S, Kirichenko, A V, Janssens, A C J W, Jansen, R C, Gnewuch, C, Domingues, F S, Pattaro, C, Wild, S H, Jonasson, I, Polasek, O, Zorkoltseva, I V, Hofman, A, Karssen, L C, Struchalin, M, Floyd, J, Igl, W, Biloglav, Z, Broer, L, Pfeufer, A, Pichler, I, Campbell, S, Zaboli, G, Kolcic, I, Rivadeneira, F, Huffman, J, Hastie, N D, Uitterlinden, A, Franke, L, Franklin, C S, Vitart, V, Nelson, C P, Preuss, M, Bis, J C, O'Donnell, C J, Franceschini, N, Witteman, J C M, Axenovich, T, Oostra, B A, Hayward, C & Wright, A F & Campbell, H 2012, ' Genome-wide association study identifies novel loci associated with circulating phospho-and sphingolipid concentrations ', PLoS Genetics, vol. 8, no. 2, pp. e1002490 . https://doi.org/10.1371/journal.pgen.1002490
PLoS Genetics; Vol 8
Phospho- and sphingolipids are crucial cellular and intracellular compounds. These lipids are required for active transport, a number of enzymatic processes, membrane formation, and cell signalling. Disruption of their metabolism leads to several dis
Autor:
Inger Jonasson, Maria Margarida Venâncio, Fátima Lopes, Ana I. Dias, Dalila Pinto, Guiomar Oliveira, Teresa Temudo, Patrícia Maciel, Mafalda Barbosa, Ulf Gyllensten, José Pedro Vieira, Adam Ameur, Pedro Cabral, Joaquim Sá, Isabel Fineza Cruz, Eulália Calado, Renata Nunes Oliveira, Gabriela Soares
Publikováno v:
International Journal of Developmental Neuroscience. 47:99-99
Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing
Publikováno v:
PLoS ONE
PLoS ONE, Vol 4, Iss 2, p e4464 (2009)
PLoS ONE, Vol 4, Iss 2, p e4464 (2009)
Mutations in the gene for growth hormone releasing hormone receptor (GHRHR) cause isolated growth hormone deficiency (IGHD) but this gene has not been found to affect normal variation in height. We performed a whole genome linkage analysis for height