Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Katelyn Payne"'
Autor:
Michael Tisza, Sara Javornik Cregeen, Vasanthi Avadhanula, Ping Zhang, Tulin Ayvaz, Karen Feliz, Kristi L. Hoffman, Justin R. Clark, Austen Terwilliger, Matthew C. Ross, Juwan Cormier, Hannah Moreno, Li Wang, Katelyn Payne, David Henke, Catherine Troisi, Fuqing Wu, Janelle Rios, Jennifer Deegan, Blake Hansen, John Balliew, Anna Gitter, Kehe Zhang, Runze Li, Cici X. Bauer, Kristina D. Mena, Pedro A. Piedra, Joseph F. Petrosino, Eric Boerwinkle, Anthony W. Maresso
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-10 (2023)
Abstract Wastewater is a discarded human by-product, but its analysis may help us understand the health of populations. Epidemiologists first analyzed wastewater to track outbreaks of poliovirus decades ago, but so-called wastewater-based epidemiolog
Externí odkaz:
https://doaj.org/article/7e65f61faade4b908ae3aa9d4d2302c7
An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome
Publikováno v:
Case Reports in Neurology, Vol 12, Iss 2, Pp 165-168 (2020)
DiGeorge syndrome (22q11.2 deletion) is associated with several neurologic disorders including structural abnormalities involving brain and spine, movement disorders, and epilepsy. Progressive spastic paraparesis has not been reported with DiGeorge s
Externí odkaz:
https://doaj.org/article/dbb5e7cca06b405bb92725b26c3efa94
Autor:
Carolyn A. McCarty, Douglas Zatzick, Teah Hoopes, Katelyn Payne, Rebecca Parrish, Frederick P. Rivara
Publikováno v:
Trials, Vol 20, Iss 1, Pp 1-14 (2019)
Abstract Background Currently, there is limited evidence to guide intervention and service delivery coordination for youth who suffer a concussion and subsequently experience persistent post-concussive symptoms (PCS) (Lumba-Brown et al. JAMA Pediatr
Externí odkaz:
https://doaj.org/article/585aeba87b6744789c81a07c071683ee
Autor:
V. Reid Sutton, Katelyn Payne, Emily Chen, Xiaofei Song, Annick Raas-Rothschild, Elizabeth Mizerik, Shannon Holtrop, Margarita Nieto Moreno, Chester W. Brown, Nurit Assia Batzir, James R. Lupski, Richard H Scott, Jennifer E. Posey, Hilary J. Vernon, Neda Zadeh, Zeynep Coban Akdemir, Jill A. Rosenfeld
Publikováno v:
Am J Med Genet A
White-Sutton syndrome (WHSUS) is a recently-identified genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ. Thus far, over 50 individuals have been reported worldwide, however phenotypic characterization and data regardin
Autor:
Emma Wakeling, Quan Li, Laurence E. Walsh, Maria J. Guillen Sacoto, Julie Vogt, Jeff L. Waugh, James R. Lupski, Elizabeth E. Palmer, Alan F. Rope, Robert Kleyner, Amalia Mallawaarachchi, Sebastian Lunke, Jennifer E. Posey, Pankaj B. Agrawal, Sebastien Moutton, Laurence Faivre, Zornitza Stark, Prosper Lukusa, Emily Fassi, Gareth Baynam, Gabriela Soares, Antonie D. Kline, Sonja A. de Munnik, Sarah A. Sandaradura, Chunhua Weng, Lucinda Murray, Lisa Ewans, Ganka Douglas, Eyby Leon, Shehla Mohammed, Marcia C. Willing, Elaine Marchi, Nora Alexander, Paul R. Mark, Joris Vermeesch, Lauren Dreyer, Aimé Lumaka, Koenraad Devriendt, Gholson J. Lyon, Helena Ahlfors, Katelyn Payne, Piatek G. Stefan, Jullianne Diaz, Lesley C. Adès, Simona Capponi, Jean-Baptiste Rivière, Michael F. Buckley, Amber Begtrup, H. T. Marc Timmers, Tony Roscioli, Mengge Zhao, Ana R. Gonçalves, Hanyin Cheng, Lisa Worgan, Kai Wang, Jorge Oliveira
Publikováno v:
Hum Mutat
We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial st
Publikováno v:
Medical Clinics of North America. 103:1055-1075
This article presents a nongeneticist's guide to understanding the genetics of Parkinson disease (PD), including clinical diagnostic criteria, differential diagnoses, symptom management, when to suspect a hereditary factor, a summary of autosomal dom
Autor:
Jonathan A. Bernstein, Leah J. Rowe, Kimberly Foss, Samin A. Sajan, Kun Xia, Juliane Hoyer, Anita E. Beck, Shayna Svihovec, Vincent Gatinois, Lance H. Rodan, Roksana Sasanfar, Christiane Zweier, Alban Ziegler, Sonal Mahida, Kristin G. Monaghan, Charlotte W. Ockeloen, André Reis, Milen Velinov, Janson White, Evan E. Eichler, Nasim Vasli, Jennifer Friedman, Constance Smith-Hicks, Gilles Morin, Rachel Westman, Sandra Yang, Joshua Scheck, Christian Thiel, John B. Vincent, Deborah A. Nickerson, Michelle E. Ernst, Jacqueline Harris, Natasha Zeid, Bernt Popp, Francesca Mattioli, Zehra Agha, Ellen van Binsbergen, Julian A. Martinez-Agosto, Karen W. Gripp, Gwenaël Le Guyader, Catherine Vincent-Delorme, Lori-Anne Schillaci, Jennefer N. Kohler, Kimberly A. Aldinger, Laurence J. Walsh, Jessica X. Chong, David Geneviève, Rami Abou Jamra, Amy Yang, Cigdem I. Akman, Sha Tang, Ricardo Harripaul, Rick Person, Marleen Simon, Hui Guo, Muhammad Ayub, Laura S. Farach, Patricia Blanchet, Austin Larson, Marie Vincent, Luis Rohena, Michael J. Bamshad, Raheel Qamar, Gregory M. Enns, Joshua Rotenberg, Katelyn Payne, William J. Sunderland, Anne C.-H. Tsai, Annika M. Dries, Michèle Mathieu-Dramard, Dominique Bonneau, Ghayda M. Mirzaa, Bénédicte Gérard, Elise Schaefer, Amélie Piton, Patricia G Wheeler
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, 22, 538-546
Genetics in Medicine, 22, 3, pp. 538-546
Genetics in Medicine
Genetics in Medicine, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, 22, 538-546
Genetics in Medicine, 22, 3, pp. 538-546
Contains fulltext : 218267.pdf (Publisher’s version ) (Closed access) PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecula
Publikováno v:
American Journal of Medical Genetics Part A. 179:300-305
Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and intellectual disability. Congenital malformations of the cerebral, cardiac, renal, and optic structures have
Autor:
Tomi L. Toler, Timothy W. Yu, William B. Dobyns, Marcia C. Willing, Karen W. Gripp, Rolph Pfundt, Muhammad Iqbal, Xiadong Wang, Lance H. Rodan, Ada Hamosh, Cynthia S. Gubbels, Janice Baker, Thatjana Gardeitchik, Jenny Lai, André Reis, Fleur Vansenne, Jennifer E. Posey, Paranchai Boonsawat, Mathilde Nizon, Sébastien Küry, Jill R. Murrell, Julian L. Ambrus, Yunhong Wu, Laura A. Baker, Aubrie Soucy, Severine Audebert-Bellanger, Ellen van Binsbergen, Thomas Courtin, Guiseppe Zampino, Caleb P. Bupp, Holly K. Harris, Alan H. Beggs, Giulia Pascolini, Catharina (Nienke) M.L. Volker-Touw, Bert B.A. de Vries, Casie A. Genetti, La Donna L. Immken, Paola Grammatico, Martin Jakob Larsen, Sylvia Redon, Kévin Uguen, Reza Asadollahi, Madeleine Fannemel, Catherine Buchanan, Boris Keren, George E. Tiller, Lilian L. Cohen, Tojo Nakayama, Laurence E. Walsh, Iqra Ghulam Rasool, Audrey Labalme, Koen L.I. van Gassen, Pankaj B. Agrawal, Boxun Zhao, Gaetan Lesca, Steffan Syrbe, Kimberly A. Aldinger, Emanuele Agolini, Maria Kibaek, Muhammad Yasir Zahoor, Peter D. Turnpenny, Antonio Novelli, Ines Brösse, Claude Férec, Jorune Balciuniene, Nikoleta Argyrou, Victoria Suslovitch, Alice Poisson, Anita Rauch, Katelyn Payne, Christina Fagerberg, Cyril Mignot, Christopher Gray, Anne Blomhoff, Carolyn D. Applegate, Cornelia Kraus, Rami Abou Jamra, Marleen Simon, Martin Broly, Cara M. Skraban, Emily Fassi
Publikováno v:
Genetics in Medicine, 23(6), 1028-1040. Nature Publishing Group
Genetics in Medicine, 23, 6, pp. 1028-1040
Genetics in Medicine, 23, 1028-1040
Genet Med
Harris, H K, Nakayama, T, Lai, J, Zhao, B, Argyrou, N, Gubbels, C S, Soucy, A, Genetti, C A, Suslovitch, V, Rodan, L H, Tiller, G E, Lesca, G, Gripp, K W, Asadollahi, R, Hamosh, A, Applegate, C D, Turnpenny, P D, Simon, M E H, Volker-Touw, C M L, Gassen, K L I V, Binsbergen, E V, Pfundt, R, Gardeitchik, T, Vries, B B A D, Immken, L L, Buchanan, C, Willing, M, Toler, T L, Fassi, E, Baker, L, Vansenne, F, Wang, X, Ambrus, J L, Fannemel, M, Posey, J E, Agolini, E, Novelli, A, Rauch, A, Boonsawat, P, Fagerberg, C R, Larsen, M J, Kibaek, M, Labalme, A, Poisson, A, Payne, K K, Walsh, L E, Aldinger, K A, Balciuniene, J, Skraban, C, Gray, C, Murrell, J, Bupp, C P, Pascolini, G, Grammatico, P, Broly, M, Küry, S, Nizon, M, Rasool, I G, Zahoor, M Y, Kraus, C, Reis, A, Iqbal, M, Uguen, K, Audebert-Bellanger, S, Ferec, C, Redon, S, Baker, J, Wu, Y, Zampino, G, Syrbe, S, Brosse, I, Jamra, R A, Dobyns, W B, Cohen, L L, Blomhoff, A, Mignot, C, Keren, B, Courtin, T, Agrawal, P B, Beggs, A H & Yu, T W 2021, ' Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 6, pp. 1028-1040 . https://doi.org/10.1038/s41436-021-01114-z
Genetics in Medicine, 23, 6, pp. 1028-1040
Genetics in Medicine, 23, 1028-1040
Genet Med
Harris, H K, Nakayama, T, Lai, J, Zhao, B, Argyrou, N, Gubbels, C S, Soucy, A, Genetti, C A, Suslovitch, V, Rodan, L H, Tiller, G E, Lesca, G, Gripp, K W, Asadollahi, R, Hamosh, A, Applegate, C D, Turnpenny, P D, Simon, M E H, Volker-Touw, C M L, Gassen, K L I V, Binsbergen, E V, Pfundt, R, Gardeitchik, T, Vries, B B A D, Immken, L L, Buchanan, C, Willing, M, Toler, T L, Fassi, E, Baker, L, Vansenne, F, Wang, X, Ambrus, J L, Fannemel, M, Posey, J E, Agolini, E, Novelli, A, Rauch, A, Boonsawat, P, Fagerberg, C R, Larsen, M J, Kibaek, M, Labalme, A, Poisson, A, Payne, K K, Walsh, L E, Aldinger, K A, Balciuniene, J, Skraban, C, Gray, C, Murrell, J, Bupp, C P, Pascolini, G, Grammatico, P, Broly, M, Küry, S, Nizon, M, Rasool, I G, Zahoor, M Y, Kraus, C, Reis, A, Iqbal, M, Uguen, K, Audebert-Bellanger, S, Ferec, C, Redon, S, Baker, J, Wu, Y, Zampino, G, Syrbe, S, Brosse, I, Jamra, R A, Dobyns, W B, Cohen, L L, Blomhoff, A, Mignot, C, Keren, B, Courtin, T, Agrawal, P B, Beggs, A H & Yu, T W 2021, ' Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 6, pp. 1028-1040 . https://doi.org/10.1038/s41436-021-01114-z
Contains fulltext : 234024.pdf (Publisher’s version ) (Closed access) PURPOSE: We describe a novel neurobehavioral phenotype of autism spectrum disorder (ASD), intellectual disability, and/or attention-deficit/hyperactivity disorder (ADHD) associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fd06b954fdd324175d081fa359a3761
http://hdl.handle.net/11573/1523877
http://hdl.handle.net/11573/1523877
Autor:
Bruce D. Gelb, Shalini C. Reshmi, Andrea Ciolfi, Marialetizia Motta, Alessandro Bruselles, Simone Martinelli, Dorothy K. Grange, Larry Walsh, Elisabetta Flex, Martina Di Rocco, Carlos E. Prada, Koen L.I. van Gassen, Luca Pannone, Mariet W. Elting, Simone Pizzi, Eva H. Brilstra, Danielle Mouhlas, Wendy K. Chung, Michelle M. Morrow, Marco Seri, Christina Lißewski, Luigi Memo, Mythily Ganapathi, Lorenzo Stella, Francesca Piceci-Sparascio, Julia Brinkmann, Francesca Clementina Radio, Dennis Bartholomew, Bruno Dallapiccola, Katelyn Payne, Emanuele Bellacchio, Federica Tamburrino, Alessandro De Luca, Sara Álvarez, Marco Tartaglia, Mónica Martínez-García, Giuseppe Zampino, Ingrid M. Wentzensen, Laura Mazzanti, Giovanna Carpentieri, Ronald R. Waclaw, Alberto Fernández-Jaén, Martin Zenker, Francesca Pantaleoni, Serena Cecchetti, Cesare Rossi, Ashita Dave-Wala, Quinten Waisfisz, Stefania Boni, Gianfranco Bocchinfuso
Publikováno v:
Am J Hum Genet
Motta, M, Pannone, L, Pantaleoni, F, Bocchinfuso, G, Radio, F C, Cecchetti, S, Ciolfi, A, Di Rocco, M, Elting, M W, Brilstra, E H, Boni, S, Mazzanti, L, Tamburrino, F, Walsh, L, Payne, K, Fernández-Jaén, A, Ganapathi, M, Chung, W K, Grange, D K, Dave-Wala, A, Reshmi, S C, Bartholomew, D W, Mouhlas, D, Carpentieri, G, Bruselles, A, Pizzi, S, Bellacchio, E, Piceci-Sparascio, F, Lißewski, C, Brinkmann, J, Waclaw, R R, Waisfisz, Q, van Gassen, K, Wentzensen, I M, Morrow, M M, Álvarez, S, Martínez-García, M, De Luca, A, Memo, L, Zampino, G, Rossi, C, Seri, M, Gelb, B D, Zenker, M, Dallapiccola, B, Stella, L, Prada, C E, Martinelli, S, Flex, E & Tartaglia, M 2020, ' Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum ', American journal of human genetics, vol. 107, no. 3, pp. 499-513 . https://doi.org/10.1016/j.ajhg.2020.06.018
American journal of human genetics, 107(3), 499-513. Cell Press
Motta, M, Pannone, L, Pantaleoni, F, Bocchinfuso, G, Radio, F C, Cecchetti, S, Ciolfi, A, Di Rocco, M, Elting, M W, Brilstra, E H, Boni, S, Mazzanti, L, Tamburrino, F, Walsh, L, Payne, K, Fernández-Jaén, A, Ganapathi, M, Chung, W K, Grange, D K, Dave-Wala, A, Reshmi, S C, Bartholomew, D W, Mouhlas, D, Carpentieri, G, Bruselles, A, Pizzi, S, Bellacchio, E, Piceci-Sparascio, F, Lißewski, C, Brinkmann, J, Waclaw, R R, Waisfisz, Q, van Gassen, K, Wentzensen, I M, Morrow, M M, Álvarez, S, Martínez-García, M, De Luca, A, Memo, L, Zampino, G, Rossi, C, Seri, M, Gelb, B D, Zenker, M, Dallapiccola, B, Stella, L, Prada, C E, Martinelli, S, Flex, E & Tartaglia, M 2020, ' Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum ', American journal of human genetics, vol. 107, no. 3, pp. 499-513 . https://doi.org/10.1016/j.ajhg.2020.06.018
American journal of human genetics, 107(3), 499-513. Cell Press
Signal transduction through the RAF-MEK-ERK pathway, the first described mitogen-associated protein kinase (MAPK) cascade, mediates multiple cellular processes and participates in early and late developmental programs. Aberrant signaling through this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7330d27e2c464d18e0c8f7741f10d5c
https://hdl.handle.net/11268/10650
https://hdl.handle.net/11268/10650