Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Merete, Bugge"'
Autor:
Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and
Externí odkaz:
https://doaj.org/article/dc4bcc3fd9a94543a5c2f94cf91155fd
Autor:
Irina Guseva Canu, Sandy Carla Marca, Francesca Dell'Oro, Ádám Balázs, Enrico Bergamaschi, Christine Besse, Renzo Bianchi, Jovanka Bislimovska, Adrijana Koscec Bjelajac, Merete Bugge, Carmen Iliana Busneag, Çiğdem Çağlayan, Mariana Cernițanu, Cristiana Costa Pereira, Nataša Dernovšček Hafner, Nadia Droz, Maija Eglite, Lode Godderis, Harald Gündel, Jari J Hakanen, Raluca Maria Iordache, Imane Khireddine-Medouni, Sibel Kiran, Francesca Larese-Filon, Catherine Lazor-Blanchet, Patrick Légeron, Tom Loney, Nicole Majery, Eda Merisalu, Ingrid Sivesind Mehlum, Laurent Michaud, Dragan Mijakoski, Jordan Minov, Alberto Modenese, Marija Molan, Henk van der Molen, Evangelia Nena, Dusan Nolimal, Marina Otelea, Elisabeta Pletea, Nurka Pranjic, David Rebergen, Jelena Reste, Eva Schernhammer, Anny Wahlen
Publikováno v:
Scandinavian Journal of Work, Environment & Health, Vol 47, Iss 2, Pp 95-107 (2021)
OBJECTIVE: A consensual definition of occupational burnout is currently lacking. We aimed to harmonize the definition of occupational burnout as a health outcome in medical research and reach a consensus on this definition within the Network on the C
Externí odkaz:
https://doaj.org/article/3669320572f745f9a4ce6b0340772138
Autor:
Dragan Mijakoski, Dumitru Cheptea, Sandy C Marca, Pascal Wild, Merete Bugge, Cigdem Caglayan, Marco Gnesi, Lode Godderis, Sibel Kiran, Damien McElvenny, Zakia Mediouni, Ingrid Sivesind Mehlum, Olivia Mesot, Jordan Minov, Henk Van der Molen, Evangelia Nena, Marina Otelea, Nurka Pranj, Irina Guseva
Publikováno v:
Oral Presentations.
Autor:
Susan Peters, Danielle Vienneau, Alexia Sampri, Michelle C Turner, Gemma Castaño-Vinyals, Merete Bugge, Roel Vermeulen
Publikováno v:
Annals of work exposures and health. 66(5)
Objectives The Network on the Coordination and Harmonisation of European Occupational Cohorts (OMEGA-NET) was set up to enable optimization of the use of industrial and general population cohorts across Europe to advance aetiological research. High-q
Autor:
Esben Budtz-Jørgensen, Britta Olsen, Peder Kern, Niels Tommerup, Merete Bugge, Inge-Merete Nielsen, Hans Eiberg, Gitte Drachmann
Publikováno v:
Birth Defects Research. 109:836-842
Background In the last decades, an increasing rate of gastroschisis but not of omphalocele has been reported worldwide. Greenland is the world's largest island, but 80% is covered by an ice cap, it has a small population of around 56,000 peoples (as
Autor:
Juan M M Mendez, Niels Tommerup, Dustin C. Hancks, Iben Bache, Mads Bak, Vera M. Kalscheuer, Lusine Nazaryan-Petersen, Mana M. Mehrjouy, Inés Oliveira, Merete Bugge
Publikováno v:
Human Mutation
Hum Mutat
Nazaryan-Petersen, L, Oliveira, I R, Mehrjouy, M M, Mendez, J M M, Bak, M, Bugge, M, Kalscheuer, V M, Bache, I, Hancks, D C & Tommerup, N 2019, ' Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome ', Human Mutation, vol. 40, no. 8, pp. 1057-1062 . https://doi.org/10.1002/humu.23775
Hum Mutat
Nazaryan-Petersen, L, Oliveira, I R, Mehrjouy, M M, Mendez, J M M, Bak, M, Bugge, M, Kalscheuer, V M, Bache, I, Hancks, D C & Tommerup, N 2019, ' Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome ', Human Mutation, vol. 40, no. 8, pp. 1057-1062 . https://doi.org/10.1002/humu.23775
Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. While a number of candidate genes have been suspected, so far only mutations in PLXND1 and REV3L are confirmed to cause MBS. Here, we fine mapped t
Autor:
Michelle C Turner, Maria Albin, Merete Bugge, Alex Burdorf, Manolis Kogevinas, Henrik Kolstad, Raquel Lucas, Neil Pearce, Vivi Schlünssen, Roel Vermeulen, Ingrid Sivesind Mehlum
Publikováno v:
ISEE Conference Abstracts. 2018
Autor:
Gert Bruun-Petersen, Celia D. DeLozier, James Lespinasse, Lisbeth Tranebjærg, Laurence Duprez, Carsten A. Brandt, Michael B. Petersen, Merete Bugge, Kirsten Wølch Rasmussen, Niels Tommerup, Johanne M D Hahnemann, Andrew Collins, Hans Eiberg, Mads Bak, Jens Michael Hertz, Claes Lundsteen, Claus Hansen
Publikováno v:
Bugge, M, Collins, A, Hertz, J M, Eiberg, H, Lundsteen, C, Brandt, C A, Bak, M, Hansen, C, Delozier, C D, Lespinasse, J, Tranebjaerg, L, Hahnemann, J M D, Rasmussen, K, Bruun-Petersen, G, Duprez, L, Tommerup, N & Petersen, M B 2007, ' Non-disjunction of chromosome 13 ', Human Molecular Genetics, vol. 16, no. 16, pp. 2004-2010 . https://doi.org/10.1093/hmg/ddm148
Bugge, M, Collins, A, Hertz, J M, Eiberg, H, Lundsteen, C, Brandt, C A, Bak, M, Hansen, C, Delozier, C D, Lespinasse, J, Tranebjaerg, L, Hahnemann, J M D, Rasmussen, K, Bruun-Petersen, G, Duprez, L & Tommerup, N 2007, ' Non-disjunction of chromosome 13. ', Human Molecular Genetics, vol. 16, no. 16, pp. 2004-10 . https://doi.org/10.1093/hmg/ddm148
Bugge, M, Collins, A, Hertz, J M, Eiberg, H, Lundsteen, C, Brandt, C A, Bak, M, Hansen, C, Delozier, C D, Lespinasse, J, Tranebjaerg, L, Hahnemann, J M D, Rasmussen, K, Bruun-Petersen, G, Duprez, L & Tommerup, N 2007, ' Non-disjunction of chromosome 13. ', Human Molecular Genetics, vol. 16, no. 16, pp. 2004-10 . https://doi.org/10.1093/hmg/ddm148
Udgivelsesdato: 2007-Aug-15 We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee4de64d8f8e8f18a695636e5e4b09e2
http://doc.rero.ch/record/292977/files/ddm148.pdf
http://doc.rero.ch/record/292977/files/ddm148.pdf
Autor:
Merete, Bugge, Gitte, Drachmann, Peder, Kern, Esben, Budtz-Jørgensen, Hans, Eiberg, Britta, Olsen, Niels, Tommerup, Inge-Merete, Nielsen
Publikováno v:
Birth defects research. 109(11)
In the last decades, an increasing rate of gastroschisis but not of omphalocele has been reported worldwide. Greenland is the world's largest island, but 80% is covered by an ice cap, it has a small population of around 56,000 peoples (as of 2016). T
Autor:
Niels Tommerup, Ulf Kristoffersson, Merete Bugge, Reinhard Ullmann, Karen Friis Henriksen, Mette Gilling, Allan Lind-Thomsen, Morten Møller, Zeynep Tümer, Vera M. Kalscheuer, Yuan Mang, Mads Bak
Publikováno v:
European Journal of Medical Genetics. 54:e383-e388
In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1) pat. The maternally inherited inv(10) was a benign var