Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Peggy Kulch"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101244- (2024)
Externí odkaz:
https://doaj.org/article/5054681942784cfba6f0c90a4fd1a170
Autor:
David A. Koolen, Yue Si, Benjamin Cogné, Pamela Trapane, Eric W. Klee, Manju A. Kurian, Miel Theunis, Eva Morava, Shekeeb S. Mohammad, Oguz Kanca, Matthew J. Moulton, Paulien A Terhal, Peggy Kulch, Queenie K.-G. Tan, An-Chi Tien, Shenzhao Lu, Erica L. Macke, Hugo J. Bellen, Katy Barwick, Bryan E. Hainline, Russell C. Dale, Lindsey D. Goodman, Katherine Sapp, Hermine E. Veenstra-Knol, Eric Legius, Amber Begtrup, Dora Steel, D. Dutta, Victoria H. Klee, Christopher J. Spencer, Bethany Robinette, Ellen van Binsbergen, Michael F. Wangler, Laurence E. Walsh, Shinya Yamamoto, Thomas A. Ravenscroft, Brian Kirmse, Bertrand Isidor, Marijke R. Wevers, Zelha Nil, Heidi Cope, Theresa A. Grebe, Melissa Jones, Wu Lin Charng, Rolph Pfundt, Jolien S. Klein Wassink-Ruiter, Charlotte A. Haaxma
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 108(9), 1669-1691. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1669-1691
American Journal of Human Genetics, 108, 1669-1691
American Journal of Human Genetics, 108(9), 1669-1691. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1669-1691
American Journal of Human Genetics, 108, 1669-1691
Transportin-2 (TNPO2) mediates multiple pathways including non-classical nucleocytoplasmic shuttling of >60 cargoes, such as developmental and neuronal proteins. We identified 15 individuals carrying de novo coding variants in TNPO2 who presented wit
Autor:
Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler
Publikováno v:
American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516
Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Delet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184
Autor:
Philippe M. Campeau, Katherine Agre, Vernon R. Sutton, Kirsty McWalter, Bertrand Isidor, Øystein L. Holla, Anna Lehman, Megha Desai, Jonathan Berg, Stéphane Bézieau, Rolph Pfundt, Jennifer Tarpinian, Jennifer B. Humberson, Holly A.F. Stessman, Madeleine R. Geisheker, Emma Bedoukian, Shalini N. Jhangiani, Marine I. Murphree, Annapurna Poduri, Anne-Sophie Denommé-Pichon, Christian Gilissen, Yaping Yang, Eliane Beauregard-Lacroix, Claude Férec, Francesca Filippini, Anne Guimier, Daryl A. Scott, Stephen Sanders, Julie C. Sapp, Ralitza H. Gavrilova, Slavé Petrovski, Ann Nordgren, Sylvia Redon, Ernie M.H.F. Bongers, Shelagh Joss, Jill A. Rosenfeld, Wallid Deb, Ingrid M. Wentzensen, Usha Kini, Vandana Shashi, Mindy H. Li, Stanislas Lyonnet, Thomas Garcia, Øyvind L. Busk, Christoffer Nellåker, Amber Begtrup, Brigitte Gilbert-Dussardier, Thomas Besnard, Francois V. Bolduc, Patrick R. Blackburn, Justine Rousseau, Frédéric Bilan, Eric W. Klee, Christopher T. Gordon, Pavel N. Pichurin, Peggy Kulch, Kevin P. Lally, Laurie Robak, Arnaud Picard, Kristian Tveten, Meredith Park, Sébastien Küry, Jaya Punetha, Moira Blyth, Asbjørg Stray-Pedersen, Jacqueline Harris, Erin L. Heinzen, Nicholas Stong, Cara M. Skraban, Julie S. Cohen, Aida Telegrafi, Xenia Latypova, Zeynep Coban Akdemir, Jacob Zyskind, Caitlin Troyer, Xiang-Jiao Yang, Tuula Rinne, Leslie G. Biesecker, Jennifer E. Posey, Kyle Retterer, Jeanne Amiel, Rui Xiao, Magnus Nordenskjöld, Tammie Dewan, Jennifer A. Sullivan, Charlotte von der Lippe, Evan E. Eichler, Anna Lindstrand, Dominique Bonneau, Yuri A. Zarate, Elaine H. Zackai, Fayth M. Kalb, Daniel H. Lowenstein, Shiri Avni, Benjamin Cogné, Jennifer J. Johnston, Kerri H. Whitlock, Catherine Shain, Séverine Audebert-Bellanger, Malin Kvarnung, Oana Caluseriu, David Goldstein, Annick Toutain, Andres Hernandez-Garcia, Brina Daniels, Sophie Ehresmann, James R. Lupski, Julie McGaughran, Ashley H Ebanks, Kévin Uguen, Marine Legendre, Sylvie Odent, Richard Redon, Erica H. Gerkes, Xiaofei Song
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3
Contains fulltext : 202928.pdf (Publisher’s version ) (Open Access) Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone
Risk assessment of amniocentesis between 11 and 15 weeks: comparison to later amniocentesis controls
Publikováno v:
Prenatal diagnosis. 14(10)
We studied 693 consecutive early amniocenteses (prior to 15 weeks) and found a spontaneous abortion rate to 28 weeks' gestation of 1·5 per cent. A control group of women having standard amniocentesis (15–20 weeks) experienced a 0·6 per cent fetal
Publikováno v:
Prenatal diagnosis. 13(3)
We assayed maternal serum samples from 134 black and 268 white women from 16 to 18 weeks of gestation for intact human chorionic gonadotropin (hCG), and unconjugated oestriol (uE3). Serum from women with high (> or = 2.5 MOMs) or low (risk for Down s