Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Elena Lopez-Rangel"'
Autor:
Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Abstract Background With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlation
Externí odkaz:
https://doaj.org/article/8b3afcd6ab86417381f08c0b4a3a4364
Autor:
Henry Y. Lu, Robert Sertori, Alejandra V. Contreras, Mark Hamer, Melina Messing, Kate L. Del Bel, Elena Lopez-Rangel, Edmond S. Chan, Wingfield Rehmus, Joshua D. Milner, Kelly M. McNagny, Anna Lehman, David L. Wiest, Stuart E. Turvey
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
B-cell lymphoma/leukemia 11B (BCL11B) is a C2H2 zinc finger transcription factor that is critically important for regulating the development and function of a variety of systems including the central nervous system, the skin, and the immune system. G
Externí odkaz:
https://doaj.org/article/f50e031de8ce43bcbc391ea6adbd0236
Autor:
Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum of heterogeneous neurological disorders. Here, we aim to examine the impact on diagnosis, treatment and cost with early use of targeted WES in early-onset epilep
Externí odkaz:
https://doaj.org/article/87c4911416cb4db6b35cb0e08dc098b1
Publikováno v:
Scopus-Elsevier
Elena Lopez-Rangel
Europe PubMed Central
Elena Lopez-Rangel
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5877a26af5a60c8d2e31ba7f0ec92cef
http://www.scopus.com/inward/record.url?eid=2-s2.0-0029447242&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0029447242&partnerID=MN8TOARS
Autor:
Gillentine, Madelyn A.1 (AUTHOR), Wang, Tianyun1 (AUTHOR), Hoekzema, Kendra1 (AUTHOR), Rosenfeld, Jill2,3 (AUTHOR), Liu, Pengfei2 (AUTHOR), Guo, Hui1,4 (AUTHOR), Kim, Chang N.5,6,7,8 (AUTHOR), De Vries, Bert B. A.9 (AUTHOR), Vissers, Lisenka E. L. M.9 (AUTHOR), Nordenskjold, Magnus10,11 (AUTHOR), Kvarnung, Malin10,11 (AUTHOR), Lindstrand, Anna10,11 (AUTHOR), Nordgren, Ann10,11 (AUTHOR), Gecz, Jozef12,13,14 (AUTHOR), Iascone, Maria15 (AUTHOR), Cereda, Anna16 (AUTHOR), Scatigno, Agnese16 (AUTHOR), Maitz, Silvia17 (AUTHOR), Zanni, Ginevra18 (AUTHOR), Bertini, Enrico18 (AUTHOR)
Publikováno v:
Genome Medicine. 5/31/2021, Vol. 13 Issue 1, p1-26. 26p.
Autor:
Cyrus, Sharri S., Cohen, Ana S. A., Agbahovbe, Ruky, Avela, Kristiina, Yeung, Kit S., Chung, Brian H. Y., Luk, Ho‐Ming, Tkachenko, Nataliya, Choufani, Sanaa, Weksberg, Rosanna, Lopez‐Rangel, Elena, Brown, Kathleen, Saenz, Margarita S., Svihovec, Shayna, McCandless, Shawn E., Bird, Lynne M., Garcia, Aixa Gonzalez, Gambello, Michael J., McWalter, Kirsty, Schnur, Rhonda E.
Publikováno v:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Dec2019, Vol. 181 Issue 4, p532-547, 16p
Autor:
Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B., Buerki, Sarah E., Evans, Daniel M., Toyota, Eric B., Boelman, Cyrus, Huh, Linda L., Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H., Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D. M., Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin
Publikováno v:
Frontiers in Neurology; 5/21/2019, pN.PAG-N.PAG, 12p
Autor:
Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P. W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P. A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez‐Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette J. V., Weckhuysen, Sarah
Publikováno v:
Annals of Neurology; Nov2018, Vol. 84 Issue 5, p788-795, 8p
Publikováno v:
Journal of Clinical Immunology; Apr2018, Vol. 38 Issue 3, p330-444, 115p
Autor:
Mary Briody Mahowald
Genetics is not gender neutral in its impact. Mahowald cites a wide range of biological and psychosocial examples that reveal its different impact on men and women, especially with regard to reproduction and caregiving. She examines the extent to whi