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There are 9201 results for: content related to: Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

  1. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 4, June 2013, Pages: 388–403, Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny van Ravenswaaij-Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert-Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater and Jacqueline Schoumans

    Version of Record online : 26 MAR 2013, DOI: 10.1002/ajmg.b.32148

  2. Investigation of NRXN1 deletions: Clinical and molecular characterization

    American Journal of Medical Genetics Part A

    Volume 161, Issue 4, April 2013, Pages: 717–731, Mindy Preston Dabell, Jill A. Rosenfeld, Patricia Bader, Luis F. Escobar, Dima El-Khechen, Stephanie E. Vallee, Mary Beth Palko Dinulos, Cynthia Curry, Jamie Fisher, Raymond Tervo, Mark C. Hannibal, Kiana Siefkas, Philip R. Wyatt, Lauren Hughes, Rosemarie Smith, Sara Ellingwood, Yves Lacassie, Tracy Stroud, Sandra A. Farrell, Pedro A. Sanchez-Lara, Linda M. Randolph, Dmitriy Niyazov, Cathy A. Stevens, Cheri Schoonveld, David Skidmore, Sara MacKay, Judith H. Miles, Manikum Moodley, Adam Huillet, Nicholas J. Neill, Jay W. Ellison, Blake C. Ballif and Lisa G. Shaffer

    Version of Record online : 12 MAR 2013, DOI: 10.1002/ajmg.a.35780

  3. You have full text access to this OnlineOpen article
    Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 153B, Issue 4, June 2010, Pages: 937–947, Michael S.L. Ching, Yiping Shen, Wen-Hann Tan, Shafali S. Jeste, Eric M. Morrow, Xiaoli Chen, Nahit M. Mukaddes, Seung-Yun Yoo, Ellen Hanson, Rachel Hundley, Christina Austin, Ronald E. Becker, Gerard T. Berry, Katherine Driscoll, Elizabeth C. Engle, Sandra Friedman, James F. Gusella, Fuki M. Hisama, Mira B. Irons, Tina Lafiosca, Elaine LeClair, David T. Miller, Michael Neessen, Jonathan D. Picker, Leonard Rappaport, Cynthia M. Rooney, Dean P. Sarco, Joan M. Stoler, Christopher A. Walsh, Robert R. Wolff, Ting Zhang, Ramzi H. Nasir, Bai-Lin Wu and on behalf of the Children's Hospital Boston Genotype Phenotype Study Group

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.b.31063

  4. You have full text access to this OnlineOpen article
    Promoter-like sequences regulating transcriptional activity in neurexin and neuroligin genes

    Journal of Neurochemistry

    Volume 127, Issue 1, October 2013, Pages: 36–47, Fabian Runkel, Astrid Rohlmann, Carsten Reissner, Stefan-Martin Brand and Markus Missler

    Version of Record online : 20 AUG 2013, DOI: 10.1111/jnc.12372

  5. You have free access to this content
    Glutamate receptor δ1 induces preferentially inhibitory presynaptic differentiation of cortical neurons by interacting with neurexins through cerebellin precursor protein subtypes

    Journal of Neurochemistry

    Volume 121, Issue 5, June 2012, Pages: 705–716, Misato Yasumura, Tomoyuki Yoshida, Sung-Jin Lee, Takeshi Uemura, Jae-Yeol Joo and Masayoshi Mishina

    Version of Record online : 23 JAN 2012, DOI: 10.1111/j.1471-4159.2011.07631.x

  6. Developmental expression of the neuroligins and neurexins in fragile X mice

    Journal of Comparative Neurology

    Volume 524, Issue 4, 1 March 2016, Pages: 807–828, Jonathan K.Y. Lai, Laurie C. Doering and Jane A. Foster

    Version of Record online : 2 SEP 2015, DOI: 10.1002/cne.23868

  7. Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 3, April 2012, Pages: 354–358, Linh Duong, Laura L. Klitten, Rikke S. Møller, Andrés Ingason, Klaus D. Jakobsen, Celina Skjødt, Michael Didriksen, Helle Hjalgrim, Thomas Werge and Niels Tommerup

    Version of Record online : 15 FEB 2012, DOI: 10.1002/ajmg.b.32036

  8. Sequence analysis of 17 NRXN1 deletions

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 165, Issue 1, January 2014, Pages: 52–61, Louise Kristine Enggaard Hoeffding, Thomas Hansen, Andrés Ingason, Linh Doung, Johan H. Thygesen, Rikke S. Møller, Niels Tommerup, George Kirov, Dan Rujescu, Lars A. Larsen and Thomas Werge

    Version of Record online : 25 SEP 2013, DOI: 10.1002/ajmg.b.32204

    Corrected by:

    Erratum: Erratum: Sequence analysis of 17 NRXN1 deletions

    Vol. 165, Issue 3, 261, Version of Record online: 12 MAR 2014

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    Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

    Epilepsia

    Volume 54, Issue 2, February 2013, Pages: 256–264, Rikke S. Møller, Yvonne G. Weber, Laura L. Klitten, Holger Trucks, Hiltrud Muhle, Wolfram S. Kunz, Heather C. Mefford, Andre Franke, Monika Kautza, Peter Wolf, Dieter Dennig, Stefan Schreiber, Ina-Maria Rückert, H.-Erich Wichmann, Jan P. Ernst, Claudia Schurmann, Hans J. Grabe, Niels Tommerup, Ulrich Stephani, Holger Lerche, Helle Hjalgrim, Ingo Helbig, Thomas Sander and EPICURE Consortium

    Version of Record online : 7 JAN 2013, DOI: 10.1111/epi.12078

    Corrected by:

    Erratum: Erratum

    Vol. 54, Issue 12, 2232, Version of Record online: 4 DEC 2013

  10. Functional analysis of TCF4 missense mutations that cause Pitt–Hopkins syndrome

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1676–1686, Marc Forrest, Ria M. Chapman, A. Michelle Doyle, Caroline L. Tinsley, Adrian Waite and Derek J. Blake

    Version of Record online : 27 JUL 2012, DOI: 10.1002/humu.22160

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    The Cbln family of proteins interact with multiple signaling pathways

    Journal of Neurochemistry

    Volume 121, Issue 5, June 2012, Pages: 717–729, Peng Wei, Roberto Pattarini, Yongqi Rong, Hong Guo, Parmil K Bansal, Sheila V Kusnoor, Ariel Y Deutch, Jennifer Parris and James I Morgan

    Version of Record online : 6 FEB 2012, DOI: 10.1111/j.1471-4159.2012.07648.x

  12. You have free access to this content
    Human alpha- and beta-NRXN1 isoforms rescue behavioral impairments of Caenorhabditis elegans neurexin-deficient mutants

    Genes, Brain and Behavior

    Volume 12, Issue 4, June 2013, Pages: 453–464, F. Calahorro and M. Ruiz-Rubio

    Version of Record online : 20 MAY 2013, DOI: 10.1111/gbb.12046

  13. Challenges in clinical interpretation of microduplications detected by array CGH analysis

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1089–1100, Pawel Stankiewicz, Amber N. Pursley and Sau Wai Cheung

    Version of Record online : 5 APR 2010, DOI: 10.1002/ajmg.a.33216

  14. A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1745–1752, Yasemin Soysal, Joris Vermeesch, Nooshin Ardeshir Davani, Kuyaş Hekimler and Necat İmirzalıoğlu

    Version of Record online : 27 MAY 2011, DOI: 10.1002/ajmg.a.34101

  15. Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters

    American Journal of Medical Genetics Part A

    Volume 155, Issue 11, November 2011, Pages: 2826–2831, Victoria Harrison, Lyndsey Connell, Jesse Hayesmoore, Joanna McParland, Michael G. Pike and Edward Blair

    Version of Record online : 30 SEP 2011, DOI: 10.1002/ajmg.a.34255

  16. You have full text access to this OnlineOpen article
    A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

    Molecular Genetics & Genomic Medicine

    Volume 2, Issue 6, November 2014, Pages: 512–521, Marina Viñas-Jornet, Susanna Esteba-Castillo, Elisabeth Gabau, Núria Ribas-Vidal, Neus Baena, Joan San, Anna Ruiz, Maria Dolors Coll, Ramon Novell and Miriam Guitart

    Version of Record online : 18 AUG 2014, DOI: 10.1002/mgg3.105

  17. Identification of rare copy number variants in high burden schizophrenia families

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 3, April 2013, Pages: 273–282, Maarten J. Van Den Bossche, Mojca Strazisar, Sophia Cammaerts, Anthony M. Liekens, Geert Vandeweyer, Veerle Depreeuw, Maria Mattheijssens, An-Sofie Lenaerts, Sonia De Zutter, Peter De Rijk, Bernard Sabbe and Jurgen Del-Favero

    Version of Record online : 15 MAR 2013, DOI: 10.1002/ajmg.b.32146

  18. Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1

    American Journal of Medical Genetics Part A

    Volume 170, Issue 3, March 2016, Pages: 717–724, Mathew Wallis, Yoshinori Tsurusaki, Trent Burgess, Peter Borzi, Naomichi Matsumoto, Noriko Miyake, Deanna True and Chirag Patel

    Version of Record online : 21 NOV 2015, DOI: 10.1002/ajmg.a.37478

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    Association study between the neurexin-1 gene and tardive dyskinesia

    Human Psychopharmacology: Clinical and Experimental

    Volume 32, Issue 1, January 2017, Rachel Lanning, Tristram A. Lett, Arun K. Tiwari, Eva J. Brandl, Vincenzo de Luca, Aristotle N. Voineskos, Steven G. Potkin, Jeffrey A. Lieberman, Herbert Y. Meltzer, Daniel J. Müller, Gary Remington, James L. Kennedy and Clement C. Zai

    Version of Record online : 25 JAN 2017, DOI: 10.1002/hup.2568

  20. Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 165, Issue 4, June 2014, Pages: 303–313, Abdul Noor, Anath C. Lionel, Sarah Cohen-Woods, Narges Moghimi, James Rucker, Alanna Fennell, Bhooma Thiruvahindrapuram, Liana Kaufman, Bryan Degagne, John Wei, Sagar V. Parikh, Pierandrea Muglia, Julia Forte, Stephen W. Scherer, James L. Kennedy, Wei Xu, Peter McGuffin, Anne Farmer, John Strauss and John B. Vincent

    Version of Record online : 3 APR 2014, DOI: 10.1002/ajmg.b.32232