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CORDIS - Forschungsergebnisse der EU
CORDIS

Interdisciplinary Training in High-Throughput Sequencing, Bioinformatics and Model Systems: Moving towards Clinical applications of Genomics

CORDIS bietet Links zu öffentlichen Ergebnissen und Veröffentlichungen von HORIZONT-Projekten.

Links zu Ergebnissen und Veröffentlichungen von RP7-Projekten sowie Links zu einigen Typen spezifischer Ergebnisse wie Datensätzen und Software werden dynamisch von OpenAIRE abgerufen.

Leistungen

Report on bioinformatis curriculum and training activities (öffnet in neuem Fenster)

A bioinformatics training curriculum will be set-up for UoM researchers. A report will be generated on the setting up on this curriculum and related training activities

Minutes of Project meeting 3 (öffnet in neuem Fenster)

Minutes of 3rd project meeting

Report attesting that Task 1.6 has been completed (öffnet in neuem Fenster)

Introduce in the reporting tool on the Participant Portal all relevant publications of the Coordinator during the 3 years preceding the start date of the project

Interim report on monthly online mentoring on HTS analysis pipelines (öffnet in neuem Fenster)

An interim report will be submitted detailing the online mentoring activities held on HTS analysis pipelines.

A record of the dissemination activities undertaken: 1 (öffnet in neuem Fenster)

A record of the dissemination activities undertaken during the first half of the project will be submitted

Minutes of Project meeting 2 (öffnet in neuem Fenster)

Minutes of the 2nd project meeting

Minutes of Project meeting 1 (öffnet in neuem Fenster)

minutes of the 1st project meeting

A report on planned and completed communication activities (öffnet in neuem Fenster)

A report will be compiled and submitted detailing the planned and completed communication activities.

A record of the dissemination activities undertaken: 2 (öffnet in neuem Fenster)

A record of the dissemination activities undertaken during the second half of the project will be submitted

Minutes of Project meeting 5 (öffnet in neuem Fenster)

Minutes of the 5th project meeting

A report on dissemination activities undertaken (öffnet in neuem Fenster)

A report highlighting all the dissemination activities undertaken as part of this project will be compiled and submitted

Reports from all scientists attended courses or conferences through this grant (öffnet in neuem Fenster)

Every scientist who attends a course or conference through this funding will submit a report. These reports will be compiled into a report for this deliverable.

Minutes of Project meeting 4 (öffnet in neuem Fenster)

Minutes of 4th Project meeting

Final report on training visit by a postdoc or researcher from UoM to a UCAM group (öffnet in neuem Fenster)

A final report detailing the activities of a training visit by a UoM scientist (graduate student post-doc or researcher) to a UCAM group.

Report on training visit to KULeuven (öffnet in neuem Fenster)

A report on training visit by a UoM scientist (graduate student, post-doc or researcher) to KULeuven for zebrafish training.

Final report on monthly online mentoring on HTS analysis pipelines (öffnet in neuem Fenster)

A final report will be submitted detailing the online mentoring activities held on HTS analysis pipelines.

Dissemination of survey results to consortium members (öffnet in neuem Fenster)

Task 2.1 consists of determining the bioinformatics and statistical needs of scientists and students at UoM. The results of this survey will be distributed to the consortium members

Interim report on training visit by a post-doc or researcher from UoM to a UCAM group (öffnet in neuem Fenster)

An interim report detailing the activities of a training visit by a UoM scientist (graduate student post-doc or researcher) to a UCAM group.

Report on training visit to UCAM (öffnet in neuem Fenster)

A report on training visit by a UoM scientist (graduate student, post-doc or researcher) to UCAM for iPSC training.

Minutes of Project meeting 6 (öffnet in neuem Fenster)

Minutes of 6th project meeting

Publication of research and review papers (öffnet in neuem Fenster)

Scientific publications enabled or facilitated through the training activities of the project

Copies of articles in local magazines and/or newspapers (öffnet in neuem Fenster)

Copies of all articles published in local magazines or newspapers, as part of the dissemination activities of the project, will be compiled and submitted to the commission.

Attendance at international conferences Year3 (öffnet in neuem Fenster)

A list of the conferences (and courses) attended during months 25 to 36 of the project.

Summer school in HTS bioinformatics core skills (öffnet in neuem Fenster)

A summer school focusing on core skills in HTS bioinformatics will be organised and delivered during the first 12 months of the project.

Attendance at international conferences Year2 (öffnet in neuem Fenster)

A list of the conferences (and courses) attended during months 13 to 24 of the project.

Attendance at international conferences Year1 (öffnet in neuem Fenster)

A list of the conferences (and courses) attended during the first 12 months of the project.

"""Train the Trainer"" event in Malta" (öffnet in neuem Fenster)

"A ""Train the Trainer"" event will be held in Malta, targeting UoM scientists interested in becoming training instructors in HTS data analysis and delivering future training courses at UoM."

Summer school in Model Systems (öffnet in neuem Fenster)

A summer school will be organised and held. The focus will be on imparting the basics in the utilisation of model systems for the elucidation of the function of mutations within candidate genes

Summer school on epigenomic data generation and analysis (öffnet in neuem Fenster)

A summer school focussing on the generation and analysis of epigenomic data will be organised and delivered by the end of the project

Depositing of training information on webpage: 3 (öffnet in neuem Fenster)

Training information will be deposited on the project webpage. This will occur periodically throughout the final year of the project

Set-up of a project website (öffnet in neuem Fenster)

The setting-up of a project website where training material can be deposited (as part of WP5 - dissemination activities)

Depositing of training information on webpage: 1 (öffnet in neuem Fenster)

Training information will be deposited on the project webpage. This will occur periodically throughout the first year of the project

Depositing of training information on webpage: 2 (öffnet in neuem Fenster)

Training information will be deposited on the project webpage. This will occur periodically throughout the second year of the project

Veröffentlichungen

Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson’s disease – a multicenter study (öffnet in neuem Fenster)

Autoren: Malin von Otter, Petra Bergström, Aldo Quattrone, Elvira Valeria De Marco, Grazia Annesi, Peter Söderkvist, Stephanie Bezzina Wettinger, Marek Drozdzik, Monika Bialecka, Hans Nissbrandt, Christine Klein, Michael Nilsson, Ola Hammarsten, Staffan Nilsson, Henrik Zetterberg
Veröffentlicht in: BMC Medical Genetics, Ausgabe 15/1, 2014, ISSN 1471-2350
Herausgeber: BioMed Central
DOI: 10.1186/s12881-014-0131-4

Transfusion-independent β0-thalassemia after bone marrow transplantation failure: proposed involvement of high parental HbF and an epigenetic mechanism

Autoren: Katia Paciaroni, Guido Lucarelli, Fabrizio Martelli, Anna Rita Migliaccio, Marieke von Lindern, Joseph Borg, Nynke Gillemans, Thamar B van Dijk, Sjaak Philipsen
Veröffentlicht in: Am J Blood Res, Ausgabe 4(1), 2014, Seite(n) 27-32, ISSN 2160-1992
Herausgeber: e-Century Publishing Corporation

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach (öffnet in neuem Fenster)

Autoren: Ioannis Karageorgos, Clint Mizzi, Efstathia Giannopoulou, Cristiana Pavlidis, Brock A. Peters, Zoi Zagoriti, Peter D. Stenson, Konstantinos Mitropoulos, Joseph Borg, Haralabos P. Kalofonos, Radoje Drmanac, Andrew Stubbs, Peter van der Spek, David N. Cooper, Theodora Katsila, George P. Patrinos
Veröffentlicht in: Human Genomics, Ausgabe 9/1, 2015, ISSN 1479-7364
Herausgeber: BioMed Central
DOI: 10.1186/s40246-015-0034-2

Aip regulates cAMP signalling and GH secretion in GH3 cells (öffnet in neuem Fenster)

Autoren: R. Formosa, A. Xuereb-Anastasi, J. Vassallo
Veröffentlicht in: Endocrine Related Cancer, Ausgabe 20/4, 2013, Seite(n) 495-505, ISSN 1351-0088
Herausgeber: Society for Endocrinology
DOI: 10.1530/ERC-13-0043

Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture (öffnet in neuem Fenster)

Autoren: Hou‐Feng Zheng, Vincenzo Forgetta, Yi‐Hsiang Hsu, Karol Estrada, Alberto Rosello‐Diez, Paul J. Leo, Chitra L. Dahia, Kyung Hyun Park‐Min, Jonathan H. Tobias, Charles Kooperberg, Aaron Kleinman, Unnur Styrkarsdottir, Ching‐Ti Liu, Charlotta Uggla, Daniel S. Evans, Carrie M. Nielson, Klaudia Walter, Ulrika Pettersson‐Kymmer, Shane McCarthy, Joel Eriksson, Tony Kwan, Mila Jhamai, Katerina Trajanoska, Yasin Memari, Josine Min, Jie Huang, Petr Danecek, Beth Wilmot, Rui Li, Wen‐Chi Chou, Lauren E. Mokry, Alireza Moayyeri, Melina Claussnitzer, Chia‐Ho Cheng, Warren Cheung, Carolina Medina‐Gómez, Bing Ge, Shu‐Huang Chen, Kwangbom Choi, Ling Oei, James Fraser, Robert Kraaij, Matthew A. Hibbs, Celia L. Gregson, Denis Paquette, Albert Hofman, Carl Wibom, Gregory J. Tranah, Mhairi Marshall, Brooke B. Gardiner, Katie Cremin, Paul Auer, Li Hsu, Sue Ring, Joyce Y. Tung, Gudmar Thorleifsson, Anke W. Enneman, Natasja M. van Schoor, Lisette C. P. G. M. de Groot, Nathalie van der Velde, Beatrice Melin, John P. Kemp, Claus Christiansen, Adrian Sayers, Yanhua Zhou, Sophie Calderari, Jeroen van Rooij, Chris Carlson, Ulrike Peters, Soizik Berlivet, Josée Dostie, Andre G. Uitterlinden, Stephen R. Williams, Charles Farber, Daniel Grinberg, Andrea Z. LaCroix, Jeff Haessler, Daniel I. Chasman, Franco Giulianini, Lynda M. Rose, Paul M. Ridker, John A. Eisman, Tuan V. Nguyen, Jacqueline R. Center, Xavier Nogues, Natalia Garcia‐Giralt, Lenore L. Launer, Vilmunder Gudnason, Dan Mellström, Liesbeth Vandenput, Najaf Amin, Cornelia M. van Duijn, Magnus K. Karlsson, Östen Ljunggren, Olle Svensson, Göran Hallmans, François Rousseau, Sylvie Giroux, Johanne Bussière, Pascal P. Arp, Fjorda Koromani, Richard L. Prince, Joshua R. Lewis, Bente L. Langdahl, A. Pernille Hermann, Jens‐Erik B. Jensen, Stephen Kaptoge, Kay‐Tee Khaw, Jonathan Reeve, Melissa M. Formosa, Angela Xuereb‐Anastasi, Kristina Åkesson, Fiona E. McGuigan, Gaurav Garg, Jose M. Olmos, Maria T. Zarrabeitia, Jose A. Riancho, Stuart H. Ralston, Nerea Alonso, Xi Jiang, David Goltzman, Tomi Pastinen, Elin Grundberg, Dominique Gauguier, Eric S. Orwoll, David Karasik, George Davey‐Smith, Albert V. Smith, Kristin Siggeirsdottir, Tamara B. Harris, M. Carola Zillikens, Joyce B. J. van Meurs, Unnur Thorsteinsdottir, Matthew T. Maurano, Nicholas J. Timpson, Nicole Soranzo, Richard Durbin, Scott G. Wilson, Evangelia E. Ntzani, Matthew A. Brown, Kari Stefansson, David A. Hinds, Tim Spector, L. Adrienne Cupples, Claes Ohlsson, Celia M. T. Greenwood, Rebecca D. Jackson, David W. Rowe, Cynthia A. Loomis, David M. Evans, Cheryl L. Ackert‐Bicknell, Alexandra L. Joyner, Emma L. Duncan, Douglas P. Kiel, Fernando Rivadeneira, J. Brent Richards
Veröffentlicht in: Nature, Ausgabe 526/7571, 2015, Seite(n) 112-117, ISSN 0028-0836
Herausgeber: Nature Publishing Group
DOI: 10.1038/nature14878

Updates of the HbVar database of human hemoglobin variants and thalassemia mutations (öffnet in neuem Fenster)

Autoren: Belinda Giardine, Joseph Borg, Emmanouil Viennas, Cristiana Pavlidis, Kamran Moradkhani, Philippe Joly, Marina Bartsakoulia, Cathy Riemer, Webb Miller, Giannis Tzimas, Henri Wajcman, Ross C. Hardison, George P. Patrinos
Veröffentlicht in: Nucleic Acids Research, Ausgabe 42/D1, 2013, Seite(n) D1063-D1069, ISSN 0305-1048
Herausgeber: Oxford University Press
DOI: 10.1093/nar/gkt911

Personalized pharmacogenomics profiling using whole-genome sequencing (öffnet in neuem Fenster)

Autoren: Clint Mizzi, Brock Peters, Christina Mitropoulou, Konstantinos Mitropoulos, Theodora Katsila, Misha R Agarwal, Ron HN van Schaik, Radoje Drmanac, Joseph Borg, George P Patrinos
Veröffentlicht in: Pharmacogenomics, Ausgabe 15/9, 2014, Seite(n) 1223-1234, ISSN 1462-2416
Herausgeber: Ashley Publications Ltd.
DOI: 10.2217/pgs.14.102

Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients (öffnet in neuem Fenster)

Autoren: Aikaterini Gravia, Vasiliki Chondrou, Argyro Sgourou, Ioanna Papantoni, Joseph Borg, Theodora Katsila, Adamantia Papachatzopoulou, George P Patrinos
Veröffentlicht in: Pharmacogenomics, Ausgabe 15/10, 2014, Seite(n) 1355-1364, ISSN 1462-2416
Herausgeber: Ashley Publications Ltd.
DOI: 10.2217/pgs.14.101

The impact of passive and active smoking on inflammation, lipid profile and the risk of myocardial infarction (öffnet in neuem Fenster)

Autoren: Ritienne Attard, Philip Dingli, Carine J M Doggen, Karen Cassar, Rosienne Farrugia, Stephanie Bezzina Wettinger
Veröffentlicht in: Open Heart, Ausgabe 4/2, 2017, Seite(n) e000620, ISSN 2053-3624
Herausgeber: British Cardiovascular Society
DOI: 10.1136/openhrt-2017-000620

Genetic causes of Parkinson’s disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR (öffnet in neuem Fenster)

Autoren: Charmaine Zahra, Christine Tabone, Graziella Camilleri, Alex E. Felice, Rosienne Farrugia, Stephanie Bezzina Wettinger
Veröffentlicht in: BMC Medical Genetics, Ausgabe 17/1, 2016, ISSN 1471-2350
Herausgeber: BioMed Central
DOI: 10.1186/s12881-016-0327-x

Platelet function is modified by common sequence variation in megakaryocyte super enhancers (öffnet in neuem Fenster)

Autoren: Romina Petersen, John J. Lambourne, Biola M. Javierre, Luigi Grassi, Roman Kreuzhuber, Dace Ruklisa, Isabel M. Rosa, Ana R. Tomé, Heather Elding, Johanna P. van Geffen, Tao Jiang, Samantha Farrow, Jonathan Cairns, Abeer M. Al-Subaie, Sofie Ashford, Antony Attwood, Joana Batista, Heleen Bouman, Frances Burden, Fizzah A. Choudry, Laura Clarke, Paul Flicek, Stephen F. Garner, Matthias Haimel, Carly
Veröffentlicht in: Nature Communications, Ausgabe 8, 2017, Seite(n) 16058, ISSN 2041-1723
Herausgeber: Nature Publishing Group
DOI: 10.1038/ncomms16058

Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients (öffnet in neuem Fenster)

Autoren: Aikaterini Gravia, Vasiliki Chondrou, Argyro Sgourou, Ioanna Papantoni, Joseph Borg, Theodora Katsila, Adamantia Papachatzopoulou, George P Patrinos
Veröffentlicht in: Pharmacogenomics, Ausgabe 14622416, 2014, Seite(n) 1355-1364, ISSN 1462-2416
Herausgeber: Ashley Publications Ltd.
DOI: 10.2217/pgs.14.101

Personalized pharmacogenomics profiling using whole-genome sequencing (öffnet in neuem Fenster)

Autoren: Clint Mizzi, Brock Peters, Christina Mitropoulou, Konstantinos Mitropoulos, Theodora Katsila, Misha R Agarwal, Ron HN van Schaik, Radoje Drmanac, Joseph Borg, George P Patrinos
Veröffentlicht in: Pharmacogenomics, Ausgabe 14622416, 2014, Seite(n) 1223-1234, ISSN 1462-2416
Herausgeber: Ashley Publications Ltd.
DOI: 10.2217/pgs.14.102

Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs (öffnet in neuem Fenster)

Autoren: K. Kampourakis, E. Vayena, C. Mitropoulou, R. H. van Schaik, D. N. Cooper, J. Borg, G. P. Patrinos
Veröffentlicht in: EMBO reports, Ausgabe 1469221X, 2014, Seite(n) 472-476, ISSN 1469-221X
Herausgeber: Nature Publishing Group
DOI: 10.1002/embr.201438641

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach (öffnet in neuem Fenster)

Autoren: Ioannis Karageorgos, Clint Mizzi, Efstathia Giannopoulou, Cristiana Pavlidis, Brock A. Peters, Zoi Zagoriti, Peter D. Stenson, Konstantinos Mitropoulos, Joseph Borg, Haralabos P. Kalofonos, Radoje Drmanac, Andrew Stubbs, Peter van der Spek, David N. Cooper, Theodora Katsila, George P. Patrinos
Veröffentlicht in: Human Genomics, Ausgabe 14797364, 2015, ISSN 1479-7364
Herausgeber: BioMed Central
DOI: 10.1186/s40246-015-0034-2

Updates of the HbVar database of human hemoglobin variants and thalassemia mutations (öffnet in neuem Fenster)

Autoren: Belinda Giardine, Joseph Borg, Emmanouil Viennas, Cristiana Pavlidis, Kamran Moradkhani, Philippe Joly, Marina Bartsakoulia, Cathy Riemer, Webb Miller, Giannis Tzimas, Henri Wajcman, Ross C. Hardison, George P. Patrinos
Veröffentlicht in: Nucleic Acids Research, Ausgabe 03051048, 2013, Seite(n) D1063-D1069, ISSN 0305-1048
Herausgeber: Oxford University Press
DOI: 10.1093/nar/gkt911

Aip regulates cAMP signalling and GH secretion in GH3 cells (öffnet in neuem Fenster)

Autoren: R. Formosa, A. Xuereb-Anastasi, J. Vassallo
Veröffentlicht in: Endocrine Related Cancer, Ausgabe 13510088, 2013, Seite(n) 495-505, ISSN 1351-0088
Herausgeber: Society for Endocrinology
DOI: 10.1530/ERC-13-0043

Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture (öffnet in neuem Fenster)

Autoren: Hou‐Feng Zheng, Vincenzo Forgetta, Yi‐Hsiang Hsu, Karol Estrada, Alberto Rosello‐Diez, Paul J. Leo, Chitra L. Dahia, Kyung Hyun Park‐Min, Jonathan H. Tobias, Charles Kooperberg, Aaron Kleinman, Unnur Styrkarsdottir, Ching‐Ti Liu, Charlotta Uggla, Daniel S. Evans, Carrie M. Nielson, Klaudia Walter, Ulrika Pettersson‐Kymmer, Shane McCarthy, Joel Eriksson, Tony Kwan, Mila Jhamai, Katerina Trajanoska, Yasin Memari, Josine Min, Jie Huang, Petr Danecek, Beth Wilmot, Rui Li, Wen‐Chi Chou, Lauren E. Mokry, Alireza Moayyeri, Melina Claussnitzer, Chia‐Ho Cheng, Warren Cheung, Carolina Medina‐Gómez, Bing Ge, Shu‐Huang Chen, Kwangbom Choi, Ling Oei, James Fraser, Robert Kraaij, Matthew A. Hibbs, Celia L. Gregson, Denis Paquette, Albert Hofman, Carl Wibom, Gregory J. Tranah, Mhairi Marshall, Brooke B. Gardiner, Katie Cremin, Paul Auer, Li Hsu, Sue Ring, Joyce Y. Tung, Gudmar Thorleifsson, Anke W. Enneman, Natasja M. van Schoor, Lisette C. P. G. M. de Groot, Nathalie van der Velde, Beatrice Melin, John P. Kemp, Claus Christiansen, Adrian Sayers, Yanhua Zhou, Sophie Calderari, Jeroen van Rooij, Chris Carlson, Ulrike Peters, Soizik Berlivet, Josée Dostie, Andre G. Uitterlinden, Stephen R. Williams, Charles Farber, Daniel Grinberg, Andrea Z. LaCroix, Jeff Haessler, Daniel I. Chasman, Franco Giulianini, Lynda M. Rose, Paul M. Ridker, John A. Eisman, Tuan V. Nguyen, Jacqueline R. Center, Xavier Nogues, Natalia Garcia‐Giralt, Lenore L. Launer, Vilmunder Gudnason, Dan Mellström, Liesbeth Vandenput, Najaf Amin, Cornelia M. van Duijn, Magnus K. Karlsson, Östen Ljunggren, Olle Svensson, Göran Hallmans, François Rousseau, Sylvie Giroux, Johanne Bussière, Pascal P. Arp, Fjorda Koromani, Richard L. Prince, Joshua R. Lewis, Bente L. Langdahl, A. Pernille Hermann, Jens‐Erik B. Jensen, Stephen Kaptoge, Kay‐Tee Khaw, Jonathan Reeve, Melissa M. Formosa, Angela Xuereb‐Anastasi, Kristina Åkesson, Fiona E. McGuigan, Gaurav Garg, Jose M. Olmos, Maria T. Zarrabeitia, Jose A. Riancho, Stuart H. Ralston, Nerea Alonso, Xi Jiang, David Goltzman, Tomi Pastinen, Elin Grundberg, Dominique Gauguier, Eric S. Orwoll, David Karasik, George Davey‐Smith, Albert V. Smith, Kristin Siggeirsdottir, Tamara B. Harris, M. Carola Zillikens, Joyce B. J. van Meurs, Unnur Thorsteinsdottir, Matthew T. Maurano, Nicholas J. Timpson, Nicole Soranzo, Richard Durbin, Scott G. Wilson, Evangelia E. Ntzani, Matthew A. Brown, Kari Stefansson, David A. Hinds, Tim Spector, L. Adrienne Cupples, Claes Ohlsson, Celia M. T. Greenwood, Rebecca D. Jackson, David W. Rowe, Cynthia A. Loomis, David M. Evans, Cheryl L. Ackert‐Bicknell, Alexandra L. Joyner, Emma L. Duncan, Douglas P. Kiel, Fernando Rivadeneira, J. Brent Richards
Veröffentlicht in: Nature, Ausgabe 00280836, 2015, Seite(n) 112-117, ISSN 0028-0836
Herausgeber: Nature Publishing Group
DOI: 10.1038/nature14878

Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy (öffnet in neuem Fenster)

Autoren: Christina Tafrali, Arsinoi Paizi, Joseph Borg, Milena Radmilovic, Marina Bartsakoulia, Emily Giannopoulou, Olga Giannakopoulou, Maja Stojiljkovic-Petrovic, Branka Zukic, Konstantinos Poulas, Eleana F Stavrou, Polyxeni Lambropoulou, Alexandra Kourakli, Alexander E Felice, Adamantia Papachatzopoulou, Sjaak Philipsen, Sonja Pavlovic, Marianthi Georgitsi, George P Patrinos
Veröffentlicht in: Pharmacogenomics, Ausgabe 14622416, 2013, Seite(n) 469-483, ISSN 1462-2416
Herausgeber: Ashley Publications Ltd.
DOI: 10.2217/pgs.13.31

Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson’s disease – a multicenter study (öffnet in neuem Fenster)

Autoren: Malin von Otter, Petra Bergström, Aldo Quattrone, Elvira Valeria De Marco, Grazia Annesi, Peter Söderkvist, Stephanie Bezzina Wettinger, Marek Drozdzik, Monika Bialecka, Hans Nissbrandt, Christine Klein, Michael Nilsson, Ola Hammarsten, Staffan Nilsson, Henrik Zetterberg
Veröffentlicht in: BMC Medical Genetics, Ausgabe 14712350, 2014, ISSN 1471-2350
Herausgeber: BioMed Central
DOI: 10.1186/s12881-014-0131-4

Transfusion-independent β0-thalassemia after bone marrow transplantation failure: proposed involvement of high parental HbF and an epigenetic mechanism

Autoren: Katia Paciaroni, Guido Lucarelli, Fabrizio Martelli, Anna Rita Migliaccio, Marieke von Lindern, Joseph Borg, Nynke Gillemans, Thamar B van Dijk, Sjaak Philipsen
Veröffentlicht in: Am J Blood Res, Ausgabe 4(1), 2014, Seite(n) 27-32, ISSN 2160-1992
Herausgeber: e-Century Publishing Corporation

Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs (öffnet in neuem Fenster)

Autoren: K. Kampourakis, E. Vayena, C. Mitropoulou, R. H. van Schaik, D. N. Cooper, J. Borg, G. P. Patrinos
Veröffentlicht in: EMBO reports, Ausgabe 15/5, 2014, Seite(n) 472-476, ISSN 1469-221X
Herausgeber: Nature Publishing Group
DOI: 10.1002/embr.201438641

Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy (öffnet in neuem Fenster)

Autoren: Christina Tafrali, Arsinoi Paizi, Joseph Borg, Milena Radmilovic, Marina Bartsakoulia, Emily Giannopoulou, Olga Giannakopoulou, Maja Stojiljkovic-Petrovic, Branka Zukic, Konstantinos Poulas, Eleana F Stavrou, Polyxeni Lambropoulou, Alexandra Kourakli, Alexander E Felice, Adamantia Papachatzopoulou, Sjaak Philipsen, Sonja Pavlovic, Marianthi Georgitsi, George P Patrinos
Veröffentlicht in: Pharmacogenomics, Ausgabe 14/5, 2013, Seite(n) 469-483, ISSN 1462-2416
Herausgeber: Ashley Publications Ltd.
DOI: 10.2217/pgs.13.31

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