Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Evelyn Douglas"'
Autor:
Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, Martin S Taylor, Hemant Bengani, David I Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey Thompson, Eric Haan, Jozef Gecz, David R Fitzpatrick, R Frank Kooy
Publikováno v:
PLoS Genetics, Vol 10, Iss 4, p e1004242 (2014)
Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID). Cytogenetic expression results from CGG tri-nucl
Externí odkaz:
https://doaj.org/article/d3dcf43d51eb47b5b7cbeb70d07b6dc0
Autor:
Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen
Publikováno v:
Am J Hum Genet
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommen
Autor:
EVELYN, DOUGLAS E.
Publikováno v:
History News, 2005 Jul 01. 60(3), 7-11.
Externí odkaz:
https://www.jstor.org/stable/42654021
Autor:
Evelyn, Douglas E.
Publikováno v:
Smithsonian Studies in American Art, 1989 Jul 01. 3(3), 25-37.
Externí odkaz:
https://www.jstor.org/stable/3109008
Autor:
EVELYN, DOUGLAS E.
Publikováno v:
History News, 1996 Jan 01. 51(1), 14-17.
Externí odkaz:
https://www.jstor.org/stable/43504189
Autor:
Asbjørg Stray-Pedersen, Anne Ronan, Yunru Shao, Eric Haan, Katharina Steindl, Zöe Powis, Perla Thulin, Giuseppe Testa, Janneke H M Schuurs-Hoeijmakers, William J. Craigen, Raman Kumar, David Rodriguez-Buritica, Michele Gabriele, Laura S. Farach, Susanne Kjaergaard, Rolph Pfundt, Jillian Nicholl, Jozef Gecz, Petter Strømme, Stefan H. Lelieveld, Kenjiro Kosaki, Sally Ann Lynch, Kimberly M. Nugent, Willy M. Nillesen, Bregje W.M. van Bon, Jill A. Rosenfeld, Charlotte Brasch-Andersen, Eirik Frengen, Lisenka E.L.M. Vissers, Scott D. McLean, Evelyn Douglas, Joris Andrieux, David A. Koolen, Anneke T. Vulto-van Silfhout, Han G. Brunner, Arie van Haeringen, Jenny Morton, Sophie Patrier, Anita Rauch, Christeen Ramane J. Pedurupillay, Pierre-Luc Germain, Peter J. Anderson, Christian Gilissen, Christian P. Schaaf, Alessandro Vitriolo, Jennifer Friedman, Toshiki Takenouchi, Pascal Chambon, Bert B.A. de Vries, Doriana Misceo, Pernille Mathiesen Tørring
Publikováno v:
American Journal of Human Genetics, 100(6), 907-925. Cell Press
Gabriele, M, Vulto-van Silfhout, A T, Germain, P-L, Vitriolo, A, Kumar, R, Douglas, E, Haan, E, Kosaki, K, Takenouchi, T, Rauch, A, Steindl, K, Frengen, E, Misceo, D, Pedurupillay, C R J, Stromme, P, Rosenfeld, J A, Shao, Y, Craigen, W J, Schaaf, C P, Rodriguez-Buritica, D, Farach, L, Friedman, J, Thulin, P, McLean, S D, Nugent, K M, Morton, J, Nicholl, J, Andrieux, J, Stray-Pedersen, A, Chambon, P, Patrier, S, Lynch, S A, Kjaergaard, S, Tørring, P M, Brasch-Andersen, C, Ronan, A, van Haeringen, A, Anderson, P J, Powis, Z, Brunner, H G, Pfundt, R, Schuurs-Hoeijmakers, J H M, van Bon, B W M, Lelieveld, S, Gilissen, C, Nillesen, W M, Vissers, L E L M, Gecz, J, Koolen, D A, Testa, G & de Vries, B B A 2017, ' YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction ', American Journal of Human Genetics, vol. 100, no. 6, pp. 907-925 . https://doi.org/10.1016/j.ajhg.2017.05.006
American Journal of Human Genetics, 100, 6, pp. 907-925
American Journal of Human Genetics, 100(6), 907-925
American Journal of Human Genetics, 100, 907-925
Gabriele, M, Vulto-van Silfhout, A T, Germain, P-L, Vitriolo, A, Kumar, R, Douglas, E, Haan, E, Kosaki, K, Takenouchi, T, Rauch, A, Steindl, K, Frengen, E, Misceo, D, Pedurupillay, C R J, Stromme, P, Rosenfeld, J A, Shao, Y, Craigen, W J, Schaaf, C P, Rodriguez-Buritica, D, Farach, L, Friedman, J, Thulin, P, McLean, S D, Nugent, K M, Morton, J, Nicholl, J, Andrieux, J, Stray-Pedersen, A, Chambon, P, Patrier, S, Lynch, S A, Kjaergaard, S, Tørring, P M, Brasch-Andersen, C, Ronan, A, van Haeringen, A, Anderson, P J, Powis, Z, Brunner, H G, Pfundt, R, Schuurs-Hoeijmakers, J H M, van Bon, B W M, Lelieveld, S, Gilissen, C, Nillesen, W M, Vissers, L E L M, Gecz, J, Koolen, D A, Testa, G & de Vries, B B A 2017, ' YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction ', American Journal of Human Genetics, vol. 100, no. 6, pp. 907-925 . https://doi.org/10.1016/j.ajhg.2017.05.006
American Journal of Human Genetics, 100, 6, pp. 907-925
American Journal of Human Genetics, 100(6), 907-925
American Journal of Human Genetics, 100, 907-925
Contains fulltext : 174704.pdf (Publisher’s version ) (Open Access) Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of g
Autor:
Raman Kumar, Heather C Mefford, Tracy Dudding-Byth, Michael Field, Mark A. Tarnopolsky, Gail E. Herman, Simon Sadedin, Elizabeth E. Palmer, Catherine Nowak, Evelyn Douglas, Broad Cmg, Lauren Brady, Gretchen Parsons, Tim M. Strom, Hermann-Josef Lüdecke, Irene Madrigal, Paul R. Mark, Jozef Gecz, Raquel Rabionet, Jessica Douglas, Naoko Ishihara, Laura Domenech Salgado, Alison Gardner, Hiroki Kurahashi, Hidehito Inagaki, Meredith K. Gillespie, Zornitza Stark, Claire C. Homan, Lourdes Loidi, Jesús Eiris, Dagmar Wieczorek, Theresa Mihalic Mosher
Publikováno v:
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Highly conserved TREX-mediated mRNA export is emerging as a key pathway in neuronal development and differentiation. TREX subunit variants cause neurodevelopmental disorders (NDDs) by interfering with mRNA export from the cell nucleus to the cytoplas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc43941b442c30fb622e3f31c4c6358b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16215
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16215
Autor:
Martine Raynaud, Raman Kumar, Hilde Van Esch, C Jensen, Bartlomiej Budny, Magdalena Badura-Stronka, Michael I. Love, Guy Froyen, Lachlan A. Jolly, Bregje W.M. van Bon, Jill A. Rosenfeld, Lina Basel-Vanagaite, M Bienek, Alison Gardner, Jillian Nicholl, Sau Wai Cheung, Elizabeth Thompson, Jozef Gecz, Anne Baxendale, Anna Latos-Bielenska, C Tan, Joshua A. Woenig, Stefan A. Haas, Mark A. Corbett, Marzena Wisniewska, Maureen Holvoet, Evelyn Douglas, Eric Haan, Michael Field, Kathryn Friend, Melanie Leffler, Jacqueline R. Batanian, Hao Hu, Pawel Stankiewicz, Reinhard Ullmann, Vera M. Kalscheuer
Publikováno v:
Human Molecular Genetics, 24, 7171-81
Human Molecular Genetics, 24, 25, pp. 7171-81
Human Molecular Genetics
Human Molecular Genetics, 24, 25, pp. 7171-81
Human Molecular Genetics
Next generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in the genetics of intellectual disab
Autor:
Michael Field, Alison Gardner, Hilde Van Esch, Vera M. Kalscheuer, Jackie Boyle, Matthew F. Hunter, Evelyn Douglas, Marie Shaw, Jozef Gecz, Melanie Leffler, Lloyd Weir, C Jensen, Elizabeth E. Palmer, Martine Raynaud, Bregje W.M. van Bon, C Tan, Carolyn Rogers, Griet Van Buggenhout, Lachlan A. Jolly, Stefan A. Haas, Eric Haan, Kathryn Friend, Katrin Hoffmann, Mark A. Corbett, Raman Kumar, M Bienek, Joshua A. Woenig, Hao Hu, Huiying Zhao, Robin Reed, Anna Hackett
Publikováno v:
The American Journal of Human Genetics
American Journal of Human Genetics, 97, 2, pp. 302-10
American Journal of Human Genetics, 97, 302-10
American Journal of Human Genetics, 97, 2, pp. 302-10
American Journal of Human Genetics, 97, 302-10
Item does not contain fulltext Export of mRNA from the cell nucleus to the cytoplasm is essential for protein synthesis, a process vital to all living eukaryotic cells. mRNA export is highly conserved and ubiquitous. Mutations affecting mRNA and mRNA
Autor:
EVELYN, DOUGLAS E.
Publikováno v:
History News, 1995 Jan 01. 50(1), 25-28.
Externí odkaz:
https://www.jstor.org/stable/42652342