Search Results - Margot I. Van Allen

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  1. 1
    Profiling placental and fetal DNA methylation in human neural tube defects

    Profiling placental and fetal DNA methylation in human neural tube defects by E. Magda Price, María S. Peñaherrera, Élodie Portales-Casamar, Paul Pavlidis, Margot I. Van Allen, Deborah E. McFadden, Wendy P. Robinson

    Published 2016
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  2. 2
    Reduction in Neural-Tube Defects after Folic Acid Fortification in Canada

    Reduction in Neural-Tube Defects after Folic Acid Fortification in Canada by Philippe De Wals, Fassiatou Tairou, Margot I. Van Allen, Soo-Hong Uh, R. Brian Lowry, Barbara Sibbald, Jane Evans, Michiel C. Van den Hof, Pamela Zimmer, Marian Crowley, Bridget A. Fernandez, Nora S. Lee, Theo Niyonsenga

    Published 2007
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  3. 3
    Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

    Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy by Michelle Demos, Ilaria Guella, C DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric Toyota, Cyrus Boelman, Linda Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce Björnson, Gabriella Horváth, Elena Lopez‐Rangel, Clara van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary Connolly, Matthew J. Farrer

    Published 2019
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  4. 4
    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy by Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki, Eric Toyota, Margot I. Van Allen, Mohnish Suri, Frances Elmslie, Marleen Simon, Koen L.I. van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary Connolly, Michelle Demos, Matthew J. Farrer, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Tara Candido, Patrice Eydoux, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Clara van Karnebeek, Suzanne Vercauteren

    Published 2017
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  5. 5
    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly by Diana Alcantara, Andrew E. Timms, Karen W. Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Vicky Cheng, Fiona Stewart, Sarju Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I. Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A. Bernstein, Aaron M. Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez‐Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M. Graham, Robert F. Hevner, William B. Dobyns, Mark O’Driscoll, Ghayda Mirzaa

    Published 2017
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  6. 6
    Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation

    Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation by Jan M. Friedman, Ágnes Baross, Allen Delaney, Adrian Ally, Laura Arbour, Jennifer Asano, Dione K. Bailey, Sarah Barber, Patricia Birch, Mabel Brown-John, Manqiu Cao, Susanna Chan, David L. Charest, Noushin Farnoud, Nicole Fernandes, Stéphane Flibotte, Anne Go, William T. Gibson, Robert A. Holt, Steven J.M. Jones, Giulia C. Kennedy, Martin Krzywinski, Sylvie Langlois, Haiyan I. Li, Barbara McGillivray, Tarun Nayar, Trevor J. Pugh, Evica Rajcan‐Separovic, Jacqueline E. Schein, Angelique Schnerch, Asim Siddiqui, Margot I. Van Allen, Gary M. Wilson, Siu‐Li Yong, Farah Zahir, Patrice Eydoux, Marco A. Marra

    Published 2006
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  7. 7
    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder by Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena Repnikova, Julie M. Gastier‐Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colby Chiang, Carrie Hanscom, Carl Ernst, Amelia M. Lindgren, Cynthia C. Morton, Yu An, Caroline Astbury, Louise Brueton, Klaske D. Lichtenbelt, Lesley C. Adès, Marco Fichera, Corrado Romano, Jeffrey W. Innis, Charles A. Williams, Dennis Bartholomew, Margot I. Van Allen, Aditi Shah Parikh, Lilei Zhang, Bai-Lin Wu, Robert E. Pyatt, Stuart Schwartz, Lisa G. Shaffer, Bert B.A. de Vries, James F. Gusella, Sarah H. Elsea

    Published 2011
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  8. 8
    Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

    Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome by Keith W. McLarren, Tesa Severson, Christèle du Souich, David W. Stockton, Lisa E. Kratz, David Cunningham, Glenda Hendson, Ryan D. Morin, Diane Wu, Jessica E. Paul, Jianghong An, Tanya N. Nelson, Athena Chou, Andrea E. DeBarber, Louise S. Merkens, Jacques L. Michaud, Paula J. Waters, Jingyi Yin, Barbara McGillivray, Michelle Demos, Guy A. Rouleau, Karl‐Heinz Grzeschik, Raffaella Smith, Patrick Tarpey, Debbie Shears, Charles E. Schwartz, Jozef Gécz, Michael R. Stratton, Laura Arbour, Jane Hurlburt, Margot I. Van Allen, Gail E. Herman, Yongjun Zhao, Richard Moore, Richard I. Kelley, Steven J.M. Jones, Robert D. Steiner, F. Lucy Raymond, Marco A. Marra, Cornelius F. Boerkoel

    Published 2010
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  9. 9
    NANS-mediated synthesis of sialic acid is required for brain and skeletal development

    NANS-mediated synthesis of sialic acid is required for brain and skeletal development by Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen, Maja Tarailo‐Graovac, Sara Balzano, Béryl Royer‐Bertrand, Angel Ashikov, Livia Garavelli, Isabella Mammi, Licia Turolla, Catherine Breen, Dian Donnai, Valérie Cormier‐Daire, Delphine Héron, Gen Nishimura, Shinichi Uchikawa, Belinda Campos‐Xavier, Antonio Rossi, Thierry Hennet, Koroboshka Brand‐Arzamendi, Jacob Rozmus, Keith Harshman, Brian J. Stevenson, Enrico Girardi, Giulio Superti‐Furga, Tammie Dewan, Alissa Collingridge, Jessie Halparin, Colin J.D. Ross, Margot I. Van Allen, Andrea Rossi, Udo F. H. Engelke, Leo A. J. Kluijtmans, E. van der Heeft, G. Herma Renkema, Arjan de Brouwer, Karin Huijben, Fokje Zijlstra, Torben Heise, Thomas J. Boltje, Wyeth W. Wasserman, Carlo Rivolta, Sheila Unger, Dirk J. Lefeber, Ron A. Wevers, Andrea Superti‐Furga

    Published 2016
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  10. 10
    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy by Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Tom W. Claydon, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E. Buerki, Tara Candido, Patrice Eydoux, Daniel M. Evans, William T. Gibson, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Tamsin Tarling, Eric Toyota, Katelin N. Townsend, Margot I. Van Allen, Clara van Karnebeek, Suzanne Vercauteren

    Published 2017
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  11. 11
    Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

    Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function by Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler, Kênia Balbi El-Jaick, Sabina Domené, Jorge I. Vélez, Nan Zhou, Donald W. Hadley, Joan Z. Balog, R Long, Alan Fryer, Wendy E. Smith, SA Omar, Scott D. McLean, Katie Clarkson, Angie Lichty, Nancy J. Clegg, Mauricio R. Delgado, Eric Levey, Elaine Stashinko, Lorraine Potocki, Margot I VanAllen, Jill Clayton‐Smith, Dian Donnai, Diana W. Bianchi, Pétur Benedikt Júlíusson, Pål R. Njølstad, Han G. Brunner, John C. Carey, Ute Hehr, Jörg Müsebeck, Peter Wieacker, A Postra, Raoul C. M. Hennekam, M-J H van den Boogaard, Arie van Haeringen, Aimée Paulussen, J. Herbergs, Connie Schrander‐Stumpel, Andreas Janecke, David Chitayat, Jin S. Hahn, Donna M. McDonald‐McGinn, Elaine H. Zackai, William B. Dobyns, Maximilian Muenke

    Published 2009
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  12. 12
    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations by Jennifer J. Johnston, Julie C. Sapp, Joyce Turner, David J. Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael Field, Ikuma Fujiwara, Michael T. Gabbett, Moran Gal, John M. Graham, Peter Hedera, Raoul C. M. Hennekam, Joseph H. Hersh, Robert J. Hopkin, Hülya Kayserili, Alexa Kidd, Virginia Kimonis, Angela E. Lin, Sally Ann Lynch, Melissa K. Maisenbacher, Sahar Mansour, Julie McGaughran, Lakshmi Mehta, Helen Murphy, Margarita Raygada, Nathaniel H. Robin, Alan F. Rope, Kenneth N. Rosenbaum, G. Bradley Schaefer, Amy Shealy, Wendy E. Smith, Maria Soller, Annmarie Sommer, Heather J. Stalker, Bernhard Steiner, Mark J. Stephan, David Tilstra, Susan Tomkins, Pamela Trapane, Anne Chun-Hui Tsai, Margot I. Van Allen, Pradeep Vasudevan, Bernhard Zabel, Janice Zunich, Graeme Black, Leslie G. Biesecker

    Published 2010
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  13. 13
    Exome Sequencing and the Management of Neurometabolic Disorders

    Exome Sequencing and the Management of Neurometabolic Disorders by Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross, Gabriella Horváth, Ramona Salvarinova, Xin C. Ye, Lin-Hua Zhang, Amit P. Bhavsar, Jessica J. Y. Lee, Britt I. Drögemöller, Mena Abdelsayed, Majid Alfadhel, Linlea Armstrong, Matthias R. Baumgartner, Patricie Burda, Mary Connolly, Jessie M. Cameron, Michelle Demos, Tammie Dewan, Janis M. Dionne, A. Mark Evans, Jan M. Friedman, Ian Garber, M. E. Suzanne Lewis, Jiqiang Ling, Rupasri Mandal, André Mattman, Margaret L. McKinnon, Aspasia Michoulas, Daniel L. Metzger, Oluseye A. Ogunbayo, Bojana Rakić, Jacob Rozmus, Peter C. Ruben, Bryan Sayson, Saikat Santra, Kirk R. Schultz, Kathryn Selby, Paul Shekel, Sandra Sirrs, Cristina Skrypnyk, Andrea Superti‐Furga, Stuart E. Turvey, Margot I. Van Allen, David S. Wishart, Jiang Wu, John K. Wu, Dimitrios Zafeiriou, Leo A. J. Kluijtmans, Ron A. Wevers, Patrice Eydoux, Anna Lehman, Hilary Vallance, Sylvia Stöckler‐Ipsiroglu, Graham Sinclair, Wyeth W. Wasserman, Clara D.M. van Karnebeek

    Published 2016
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