Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Rita J. Jeremy"'
Autor:
Leighton B N Hinkley, Elysa J Marco, Anne M Findlay, Susanne Honma, Rita J Jeremy, Zoe Strominger, Polina Bukshpun, Mari Wakahiro, Warren S Brown, Lynn K Paul, A James Barkovich, Pratik Mukherjee, Srikantan S Nagarajan, Elliott H Sherr
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e39804 (2012)
The corpus callosum is hypothesized to play a fundamental role in integrating information and mediating complex behaviors. Here, we demonstrate that lack of normal callosal development can lead to deficits in functional connectivity that are related
Externí odkaz:
https://doaj.org/article/5d0169b3698c446ab15f5cc6cf98be2e
Autor:
Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne M. Maillard, Aurélie Pain, Sonia Richetin, Aia E. Jønch, Abid Y. Qureshi, Nicole R. Zürcher, Philippe Conus, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Ferath Kherif, Jacques S. Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L. Buckner, Bogdan Draganski, Sébastien Jacquemont, Marie-Claude Addor, Joris Andrieux, Benoît Arveiler, Geneviève Baujat, Frédérique Sloan-Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean-Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie-Pierre Cordier, Albert David, François-Guillaume Debray, Marie-Ange Delrue, Martine Doco-Fenzy, Ulrike Dunkhase-Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Genevieve, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, Marie-Pierre Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina Pilekær Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Caroline Rooryck-Thambo, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth-Bolard, Marianne Till, Mieke Van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey L. Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina Cerban, Yishin Chang, Maxwell Cheong, Vivian Chow, Zili Chu, Darina Chudnovskaya, Lauren Cornew, Corby Dale, John Dell, Allison G. Dempsey, Trent Deschamps, Rachel Earl, James Edgar, Jenna Elgin, Jennifer Endre Olson, Yolanda L. Evans, Anne Findlay, Gerald D. Fischbach, Charlie Fisk, Brieana Fregeau, Bill Gaetz, Leah Gaetz, Silvia Garza, Jennifer Gerdts, Orit Glenn, Sarah E. Gobuty, Rachel Golembski, Marion Greenup, Kory Heiken, Katherine Hines, Leighton Hinkley, Frank I. Jackson, Julian Jenkins, Rita J. Jeremy, Kelly Johnson, Stephen M. Kanne, Sudha Kessler, Sarah Y. Khan, Matthew Ku, Emily Kuschner, Anna L. Laakman, Peter Lam, Morgan W. Lasala, Hana Lee, Kevin LaGuerre, Susan Levy, Alyss Lian Cavanagh, Ashlie V. Llorens, Katherine Loftus Campe, Tracy L. Luks, Elysa J. Marco, Stephen Martin, Alastair J. Martin, Gabriela Marzano, Christina Masson, Kathleen E. McGovern, Rebecca McNally Keehn, David T. Miller, Fiona K. Miller, Timothy J. Moss, Rebecca Murray, Srikantan S. Nagarajan, Kerri P. Nowell, Julia Owen, Andrea M. Paal, Alan Packer, Patricia Z. Page, Brianna M. Paul, Alana Peters, Danica Peterson, Annapurna Poduri, Nicholas J. Pojman, Ken Porche, Monica B. Proud, Saba Qasmieh, Melissa B. Ramocki, Beau Reilly, Timothy P.L. Roberts, Dennis Shaw, Tuhin Sinha, Bethanny Smith-Packard, Anne Snow Gallagher, Vivek Swarnakar, Tony Thieu, Christina Triantafallou, Roger Vaughan, Mari Wakahiro, Arianne Wallace, Tracey Ward, Julia Wenegrat, Anne Wolken
Publikováno v:
Biological Psychiatry
Biological Psychiatry, Elsevier, 2018, 84 (4), pp.253-264. ⟨10.1016/j.biopsych.2018.02.1176⟩
16p11.2 European Consortium 2018, ' Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure : A Multisite Genetic-First Study ', Biological Psychiatry, vol. 84, no. 4, pp. 253-264 . https://doi.org/10.1016/j.biopsych.2018.02.1176
Biological Psychiatry, 2018, 84 (4), pp.253-264. ⟨10.1016/j.biopsych.2018.02.1176⟩
Simons Variation in Individuals Project (VIP) Consortium & 16p11.2 European Consortium 2018, ' Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure : A Multisite Genetic-First Study ', Biological Psychiatry, vol. 84, no. 4, pp. 253-264 . https://doi.org/10.1016/j.biopsych.2018.02.1176
Biological Psychiatry, 84(4), 253-264. Elsevier USA
Biological psychiatry, vol. 84, no. 4, pp. 253-264
Biological Psychiatry, Elsevier, 2018, 84 (4), pp.253-264. ⟨10.1016/j.biopsych.2018.02.1176⟩
16p11.2 European Consortium 2018, ' Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure : A Multisite Genetic-First Study ', Biological Psychiatry, vol. 84, no. 4, pp. 253-264 . https://doi.org/10.1016/j.biopsych.2018.02.1176
Biological Psychiatry, 2018, 84 (4), pp.253-264. ⟨10.1016/j.biopsych.2018.02.1176⟩
Simons Variation in Individuals Project (VIP) Consortium & 16p11.2 European Consortium 2018, ' Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure : A Multisite Genetic-First Study ', Biological Psychiatry, vol. 84, no. 4, pp. 253-264 . https://doi.org/10.1016/j.biopsych.2018.02.1176
Biological Psychiatry, 84(4), 253-264. Elsevier USA
Biological psychiatry, vol. 84, no. 4, pp. 253-264
BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfca8fc386da0aeafec886c42f6eb7a4
https://hdl.handle.net/21.11116/0000-0001-FF1F-F21.11116/0000-0001-6AE8-3
https://hdl.handle.net/21.11116/0000-0001-FF1F-F21.11116/0000-0001-6AE8-3
Autor:
Rita J. Jeremy, Yvonne W. Wu, Donna M. Ferriero, Petra Liljestrand, Gabriel J. Escobar, Jean Hayward, Thomas B. Newman
Publikováno v:
Journal of Pediatric Neurology. :141-146
The prevalence of motor examination abnormalities among a general pediatric population is unknown. We determined the frequency of motor abnormalities noted at five years of age during a neurologic examination by a child neurologist. As part of a foll
Autor:
Hillary C. Chu, Logan K. Wink, Anne Slavotinek, Rachel J. Hundley, Cary Fu, Mark Nespeca, Steven A. Skinner, Annapurna Poduri, Jennifer M. Willen, Heather E. Olson, Carlos A. Bacino, Lucia T. Horowitz, Edwin J. Weeber, Lynne M. Bird, Kevin F. Haas, Gregory N. Barnes, Rita J. Jeremy, Wen-Hann Tan, Rene Barbieri-Welge, Anjali Sadhwani, Craig A. Erickson, Sanjeev V. Kothare, Paul A. Rufo, Alexander Rotenberg, Lisa M. Noll
Publikováno v:
American journal of medical genetics. Part A, vol 176, iss 5
Treatment for Angelman syndrome is currently limited to symptomatic interventions. A mouse model of Angelman syndrome has reduced calcium/calmodulin-dependent kinase II activity due to excessive phosphorylation of specific threonine residues, leading
Autor:
Polina Bukshpun, Jacquelyn Gold, Elliott H. Sherr, Elysa J. Marco, Srikantan S. Nagarajan, Rita J. Jeremy, Leighton B. Hinkley, Mari Wakahiro, Pratik Mukherjee, Anne M. Findlay, Ethan G. Brown, Susanna S. Hill, A. James Barkovich
Publikováno v:
The Journal of neuroscience : the official journal of the Society for Neuroscience, vol 36, iss 16
The development of hemispheric lateralization for language is poorly understood. In one hypothesis, early asymmetric gene expression assigns language to the left hemisphere. In an alternate view, language is represented a priori in both hemispheres a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a89453e11bf4a0ec3ac4a4b510773be
https://escholarship.org/uc/item/3v29q68g
https://escholarship.org/uc/item/3v29q68g
Autor:
Amie Blanco, Trilokesh D. Kidambi, James Barkovich, Ana Sánchez Azofra, Peggy Conrad, Jonathan P. Terdiman, Rita J. Jeremy, Megan Myers
Publikováno v:
Hereditary Cancer in Clinical Practice
Background Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary colon cancer syndrome caused by mutations in adenomatous polyposis coli (APC) with both colonic and extra-colonic manifestations. Case reports have noted an associati
Autor:
Polina Bukshpun, Zoe Strominger, Mari Wakahiro, Elliott H. Sherr, Leighton B. Hinkley, Elysa J. Marco, Srikantan S. Nagarajan, Simon Baron-Cohen, Rita J. Jeremy, Yolanda C. Lau, Bonnie Auyeung, Carrie Allison
Publikováno v:
Journal of autism and developmental disorders, vol 43, iss 5
Autism spectrum disorders (ASD) have numerous etiologies, including structural brain malformations such as agenesis of the corpus callosum (AgCC). We sought to directly measure the occurrence of autism traits in a cohort of individuals with AgCC and
Autor:
Laurent Pasquier, Anne V. Snow, David T. Miller, Louise Harewood, Christina Triantafallou, Timothy P.L. Roberts, Leighton B. Hinkley, Zili Chu, Louis Vallée, Alyss Lian Cavanagh, Evica Rajcan-Separovic, Patricia Blanchet, Fiona Miller, Robin P. Goin-Kochel, Beau Reilly, Bettina Cerban, Vanessa Siffredi, Bridget A. Fernandez, Roger Vaughan, Brianna M. Paul, Fanny Morice-Picard, Elisabeth Flori, Dominique Campion, Gérard Didelot, Anne Philippe, Christa Lese Martin, Srikantan S. Nagarajan, Joris Andrieux, Jacques Puechberty, Marie Pierre Cordier, Jill V. Hunter, Ellen van Binsbergen, Catherine Vincent-Delorme, Vivek Swarnakar, Jean Marie Cuisset, Monica Proud, Patrick Callier, Bert B.A. de Vries, Jeffrey I. Berman, Sarah J. Spence, Alexandra Bowe, Wendy K. Chung, Katy Ankenman, Katherine Hines, Sarah E. Gobuty, Philippe Jonveaux, Lisa Blaskey, Alice Goldenberg, Sylvie Jaillard, Alessandra Renieri, Anne M. Maillard, Tracy Luks, Lee Anne Green Snyder, Elliott H. Sherr, Sarah Y. Khan, Fabienne Prieur, Simon A. Zwolinski, Andres Metspalu, Ghislaine Plessis, Jean Chiesa, Rita J. Jeremy, Valérie Malan, Michèle Mathieu-Dramard, Loyse Hippolyte, Bethanny Smith-Packard, Andrea M. Paal, Bénédicte Duban Bedu, Claudine Rieubland, Jordan Burko, Sylvie Joriot, Philippe Conus, Dominique Bonneau, Benoit Arveiler, Nicole de Leeuw, Allison G. Dempsey, John E. Spiro, Julia Wenegrat, Bertrand Isidor, Cédric Le Caignec, Kyle J. Steinman, Bruno Delobel, Ashlie Llorens, Jacques S. Beckmann, Kelly Johnson, Sean Ackerman, Polina Bukshpun, Silvia Garza, Alexandre Reymond, Damien Sanlaville, Ellen Hanson, Martine Doco-Fenzy, Jacques Thonney, Mari Wakahiro, Juliane Hoyer, Jacqueline Vigneron, Katrin Õunap, Arthur L. Beaudet, Mandy Barker, Nicole Visyak, Sonia Bouquillon, W. Andrew Faucett, Raphael Bernier, Sudha Kilaru Kessler, Audrey Lynn Bibb, Dennis Shaw, R. Frank Kooy, Suzanne M E Lewis, Anna L. Laakman, Nicholas J. Pojman, Hubert Journel, Laura Bernardini, Arianne Stevens, Julia P. Owen, Rebecca Mc Nally Keehn, Stéphanie Selmoni, Sébastien Lebon, Aurélien Macé, Bruno Leheup, Saba Qasmieh, Zoltán Kutalik, Anita Rauch, Yiping Shen, Elysa J. Marco, Nathalie Van der Aa, Carina Ferrari, Noam D. Beckmann, Delphine Héron, Jennifer Tjernage, Benjamin Aaronson, Albert David, Marie Pierre Lemaitre, Muriel Holder, Eve Õiglane-Shlik, Anneke T. Vulto-van Silfhout, Flore Zufferey, Constance Atwell, Marta Benedetti, Ellen Grant, Jenna Elgin, Patricia Z. Page, Caroline Rooryck, Randy L. Buckner, Qixuan Chen, Laurence Faivre, Sébastien Jacquemont, Kerri P. Nowell, Florence Fellmann, Disciglio Vittoria, Katharina Magdalena Rötzer, Hana Lee, Alastair J. Martin, Marion Greenup, David H. Ledbetter, Katrin Männik, Morgan W. Lasala, Jennifer Gerdts, Hanalore Alupay, Florence Petit, Elizabeth Aylward, Gerald D. Fischbach, Mafalda Mucciolo, Maxwell Cheong, Gabriela Marzano, Frédérique Béna, Danielle Martinet, Timothy J. Moss, Odile Boute, Jennifer Olson, Marco Belfiore, Christina Fagerberg, Corby L. Dale, Robert M. Witwicki, Yolanda L. Evans, Melissa B. Ramocki, Marie-Claude Addor, Christèle Dubourg, Mariken Ruiter, Tuhin K. Sinha, Mieke M. van Haelst, Alan Packer, Kathleen E. McGovern, Christie M. Brewton, Stephen M. Kanne, Richard I. Fisher, Tracey Ward, Sophie Dupuis-Girod, Pratik Mukherjee
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective To define the medical, neuropsychological, and beha
Autor:
Elliott H. Sherr, Zoe Strominger, Michael Wahl, Pratik Mukherjee, Mari Wakahiro, Rita J. Jeremy
Publikováno v:
Pediatric Neurology. 43:87-91
Aicardi syndrome is a congenital neurodevelopmental disorder associated with significant cognitive and motor impairment. Diffusion Tensor Imaging was performed on two subjects with Aicardi syndrome, as well as on two matched subjects with callosal ag
Autor:
Steven P. Miller, A. James Barkovich, Hannah C. Glass, Donna M. Ferriero, David V. Glidden, Rita J. Jeremy
Publikováno v:
The Journal of Pediatrics. 155:318-323
Objective To examine whether neonatal seizures are associated with neurodevelopmental outcomes in infants with hypoxia-ischemia independent of the presence and severity of brain injury seen on magnetic resonance imaging (MRI). Study design We used mu