Zobrazeno 1 - 10
of 343
pro vyhledávání: '"Naidu SakkuBai"'
Autor:
Blue Mary, Homanics Gregg E, Srivastava Nishit, Rice Stephen G, Olfers Shannon L, Jentarra Garilyn M, Naidu SakkuBai, Narayanan Vinodh
Publikováno v:
BMC Neuroscience, Vol 11, Iss 1, p 19 (2010)
Abstract Background Rett syndrome (RTT), a common cause of mental retardation in girls, is associated with mutations in the MECP2 gene. Most human cases of MECP2 mutation in girls result in classical or variant forms of RTT. When these same mutations
Externí odkaz:
https://doaj.org/article/ea51edbd6067433da94f809d2a7bf1ef
Autor:
Delanne, Julian, Lecat, Magaly, Blackburn, Patrick R., Klee, Eric W., Stumpel, Constance T.R.M., Stegmann, Sander, Stevens, Servi J.C., Nava, Caroline, Heron, Delphine, Keren, Boris, Mahida, Sonal, Naidu, Sakkubai, Babovic-Vuksanovic, Dusica, Herkert, Johanna C., Torring, Pernille M., Kibæk, Maria, De Bie, Isabelle, Pfundt, Rolph, Hendriks, Yvonne M.C., Ousager, Lilian Bomme, Bend, Renee, Warren, Hannah, Skinner, Steven A., Lyons, Michael J., Pöe, Charlotte, Chevarin, Martin, Jouan, Thibaud, Garde, Aurore, Thomas, Quentin, Kuentz, Paul, Tisserant, Emilie, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel
Publikováno v:
In European Journal of Medical Genetics January 2023 66(1)
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Wong, Dean F., Harris, James C., Naidu, Sakkubai, Yokoi, Fuji, Marenco, Stefano, Dannals, Robert F., Ravert, Hayden T., Yaster, Myron, Evans, Alan, Rousset, Olivier, Bryan, R. Nick, Gjedde, Albert, Kuhar, Michael J., Breese, George R.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1996 May . 93(11), 5539-5543.
Externí odkaz:
https://www.jstor.org/stable/39468
Autor:
Pidcock, Frank S., Salorio, Cynthia, Bibat, Genila, Swain, Jennifer, Scheller, Jocelyn, Shore, Wendy, Naidu, SakkuBai
Publikováno v:
In Brain and Development January 2016 38(1):76-81
Autor:
Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., Rubboli, Guido
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and Objectives Purine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy,
Autor:
Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer M. Tarpinian, Jill A. Rosenfeld, Brendan H. Lee, Philippe M. Campeau, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David P. Bick, Camille L. Birch, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary D. Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell-Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos Ferreira, Brent L. Fogel, Noah D. Friedman, William A. Gahl, Emily Glanton, Rena A. Godfrey, David B. Goldstein, Sarah E. Gould, Jean-Philippe F. Gourdine, Catherine A. Groden, Andrea L. Gropman, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Matthew R. Herzog, Ingrid A. Holm, Jason Hom, Ellen M. Howerton, Yong Huang, Howard J. Jacob, Mahim Jain, Jean M. Johnston, Angela L. Jones, Isaac S. Kohane, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Seema R. Lalani, C. Christopher Lau, Jozef Lazar, Hane Lee, Shawn E. Levy, Richard A. Lewis, Sharyn A. Lincoln, Allen Lipson, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Ronit Marom, Julian A. Martínez-Agosto, Shruti Marwaha, Thomas May, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Matthew Might, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, Jennifer L. Murphy, Donna M. Muzny, Michele E. Nehrebecky, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Jordan S. Orange, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Loren D.M. Pena, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Chloe M. Reuter, Amy K. Robertson, Lance H. Rodan, Jacinda B. Sampson, Susan L. Samson, Kelly Schoch, Molly C. Schroeder, Daryl A. Scott, Prashant Sharma, Rebecca Signer, Edwin K. Silverman, Janet S. Sinsheimer, Kevin S. Smith, Kimberly Splinter, Joan M. Stoler, David A. Sweetser, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Zaheer M. Valivullah, Eric Vilain, Tiphanie P. Vogel, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Patricia A. Ward, Katrina M. Waters, Monte Westerfield, Anastasia L. Wise, Lynne A. Wolfe, Elizabeth A. Worthey, Shinya Yamamoto, Yaping Yang, Guoyun Yu, Diane B. Zastrow, Allison Zheng
Publikováno v:
American Journal of Human Genetics, 104(1), 164. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
American Journal of Human Genetics, 104(1), 164-178. Cell Press
American Journal of Human Genetics, 104, 1, pp. 164-178
American Journal of Human Genetics, 104, 164-178
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
American Journal of Human Genetics, 104(1), 164-178. Cell Press
American Journal of Human Genetics, 104, 1, pp. 164-178
American Journal of Human Genetics, 104, 164-178
Contains fulltext : 202800.pdf (Publisher’s version ) (Open Access) SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and
Autor:
Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, Van Spaendonk, Rosalina M. L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenco, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, De Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice M., Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P. J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özklnay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, CA, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, Van De Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Van Der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Genevieve
Publikováno v:
Pelletier, Félixe Perrier, Stefanie Cayami, Ferdy K. Mirchi, Amytice Saikali, Stephan Tran, Luan T. Ulrick, Nicole Guerrero, Kether Rampakakis, Emmanouil Van Spaendonk, Rosalina M. L. Naidu, Sakkubai Pohl, Daniela Gibson, William T. Demos, Michelle Goizet, Cyril Tejera-Martin, Ingrid Potic, Ana Fogel, Brent Brais, Bernard Sylvain, Michel Sébire, Guillaume Lourenco, Charles Marques Bonkowsky, Joshua L. Catsman-Berrevoets, Coriene Pinto, Pedro S. Tirupathi, Sandya Strømme, Petter De Grauw, Ton Gieruszczak-Bialek, Dorota Krägeloh-Mann, Ingeborg Mierzewska, Hanna Philippi, Heike Rankin, Julia Atik, Tahir Banwell, Brenda Benko, William S. Blaschek, Astrid Bley, Annette Boltshauser, Eugen Bratkovic, Drago Brozova, Klara Cimas, Icíar Clough, Christopher Corenblum, Bernard Dinopoulos, Argirios Dolan, Gail Faletra, Flavio Fernandez, Raymond Fletcher, Janice M. Garcia Garcia, Maria Eugenia Gasparini, Paolo Gburek-Augustat, Janina Gonzalez Moron, Dolores Hamati, Aline Harting, Inga Hertzberg, Christoph Hill, Alan Hobson, Grace M. Innes, A. Micheil Kauffman, Marcelo Kirwin, Susan M. Kluger, Gerhard Kolditz, Petra Kotzaeridou, Urania La Piana, Roberta Liston, Eriskay McClintock, William McEntagart, Meriel McKenzie, Fiona Melançon, Serge Misbahuddin, Anjum Suri, Mohnish Monton, Fernando I. Moutton, Sebastien Murphy, Raymond P. J. Nickel, Miriam Onay, Hüseyin Orcesi, Simona Özklnay, Ferda Patzer, Steffi Pedro, Helio Pekic, Sandra Pineda Marfa, Mercedes Pizzino, Amy Plecko, Barbara Poll-The, Bwee Tien Popovic, Vera Rating, Dietz Rioux, Marie-France Rodriguez Espinosa, Norberto Ronan, Anne Ostergaard, John R. Rossignol, Elsa Sanchez-Carpintero, Rocio Schossig, Anna Senbil, Nesrin Sønderberg Roos, Laura K. Stevens, CA Synofzik, Matthis Sztriha, László Tibussek, Daniel Timmann, Dagmar Tonduti, Davide Van De Warrenburg, Bart P. Vázquez-López, Maria Venkateswaran, Sunita Wasling, Pontus Wassmer, Evangeline Webster, Richard Wiegand, Gert Yoon, Grace Rotteveel, Joost Schiffmann, Raphael Van Der Knaap, Marjo S. Vanderver, Adeline Martos-Moreno, Gabriel Á Polychronakos, Constantin Wolf, Nicole I. Bernard, Genevieve . Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. Jo
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Externí odkaz:
http://hdl.handle.net/10852/93640
https://www.duo.uio.no/bitstream/handle/10852/93640/1/Pelletier_et_al_2021.pdf
https://www.duo.uio.no/bitstream/handle/10852/93640/1/Pelletier_et_al_2021.pdf
Autor:
Mirchi, Amytice, Guay, Simon-Pierre, Tran, Luan T, Wolf, Nicole I, Vanderver, Adeline, Brais, Bernard, Sylvain, Michel, Pohl, Daniela, Rossignol, Elsa, Saito, Michael, Moutton, Sebastien, González-Gutiérrez-Solana, Luis, Thiffault, Isabelle, Kruer, Michael C, Moron, Dolores Gonzales, Kauffman, Marcelo, Goizet, Cyril, Sztriha, László, Glamuzina, Emma, Melancon, Serge B, Naidu, Sakkubai, Retrouvey, Jean-Marc, Lacombe, Suzanne, Bernardino-Cuesta, Beatriz, De Bie, Isabelle, Bernard, Geneviève
Publikováno v:
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 10 p1026-1034, 9p