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There are 4504 results for: content related to: Links between genetics and pathophysiology in the autism spectrum disorders

  1. Association between copy number variants in 16p11.2 and major depressive disorder in a German case–control sample

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 3, April 2012, Pages: 263–273, Franziska Degenhardt, Lutz Priebe, Stefan Herms, Manuel Mattheisen, Thomas W. Mühleisen, Sandra Meier, Susanne Moebus, Jana Strohmaier, Magdalena Groß, René Breuer, Christoph Lange, Per Hoffmann, Andreas Meyer-Lindenberg, Andreas Heinz, Henrik Walter, Susanne Lucae, Christiane Wolf, Bertram Müller-Myhsok, Florian Holsboer, Wolfgang Maier, Marcella Rietschel, Markus M. Nöthen and Sven Cichon

    Version of Record online : 17 FEB 2012, DOI: 10.1002/ajmg.b.32034

  2. An Integrative Segmentation Method for Detecting Germline Copy Number Variations in SNP Arrays

    Genetic Epidemiology

    Volume 36, Issue 4, May 2012, Pages: 373–383, Jianxin Shi and Peng Li

    Version of Record online : 26 APR 2012, DOI: 10.1002/gepi.21631

  3. SgD-CNV, a database for common and rare copy number variants in three Asian populations

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1341–1349, Haiyan Xu, Wan-Ting Poh, Xueling Sim, Rick Twee-Hee Ong, Chen Suo, Wan-Ting Tay, Chiea-Chuen Khor, Mark Seielstad, Jianjun Liu, Tin Aung, E-Shyong Tai, Tien-Yin Wong, Kee-Seng Chia and Yik-Ying Teo

    Version of Record online : 30 SEP 2011, DOI: 10.1002/humu.21601

  4. Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 100, Issue 12, December 2014, Pages: 951–964, Peter S. White, Hongbo M. Xie, Petra Werner, Joseph Glessner, Brande Latney, Hakon Hakonarson and Elizabeth Goldmuntz

    Version of Record online : 26 JUL 2014, DOI: 10.1002/bdra.23279

  5. Rare copy number variants in patients with congenital conotruncal heart defects

    Birth Defects Research

    Volume 109, Issue 4, March 1, 2017, Pages: 271–295, Hongbo M. Xie, Petra Werner, Dwight Stambolian, Joan E. Bailey-Wilson, Hakon Hakonarson, Peter S. White, Deanne M. Taylor and Elizabeth Goldmuntz

    Version of Record online : 13 FEB 2017, DOI: 10.1002/bdra.23609

  6. Clinical Significance of De Novo and Inherited Copy-Number Variation

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1679–1687, Anneke T. Vulto-van Silfhout, Jayne Y. Hehir-Kwa, Bregje W.M. van Bon, Janneke H.M. Schuurs-Hoeijmakers, Stephen Meader, Claudia J.M. Hellebrekers, Ilse J.M. Thoonen, Arjan P.M. de Brouwer, Han G. Brunner, Caleb Webber, Rolph Pfundt, Nicole de Leeuw and Bert B.A. de Vries

    Version of Record online : 10 OCT 2013, DOI: 10.1002/humu.22442

  7. Schizophrenia two-hit hypothesis in velo-cardio facial syndrome

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 2, March 2013, Pages: 177–182, Hywel J. Williams, Stephen Monks, Kieran C. Murphy, George Kirov, Michael C. O'Donovan and Michael J. Owen

    Version of Record online : 17 JAN 2013, DOI: 10.1002/ajmg.b.32129

  8. Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 886–895, Melissa Leyva-Vega, Jennifer Gerfen, Brian D. Thiel, Dorota Jurkiewicz, Elizabeth B. Rand, Joanna Pawlowska, Diana Kaminska, Pierre Russo, Xiaowu Gai, Ian D. Krantz, Binita M. Kamath, Hakon Hakonarson, Barbara A. Haber and Nancy B. Spinner

    Version of Record online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33332

  9. You have free access to this content
    Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism

    Epilepsia

    Volume 53, Issue 9, September 2012, Pages: 1526–1538, Gaetan Lesca, Gabrielle Rudolf, Audrey Labalme, Edouard Hirsch, Alexis Arzimanoglou, Pierre Genton, Jacques Motte, Anne de Saint Martin, Maria-Paola Valenti, Clotilde Boulay, Julitta De Bellescize, Pascale Kéo-Kosal, Nadia Boutry-Kryza, Patrick Edery, Damien Sanlaville and Pierre Szepetowski

    Version of Record online : 27 JUN 2012, DOI: 10.1111/j.1528-1167.2012.03559.x

  10. The genetic variability and commonality of neurodevelopmental disease

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 2, 15 May 2012, Pages: 118–129, Bradley P. Coe, Santhosh Girirajan and Evan E. Eichler

    Version of Record online : 12 APR 2012, DOI: 10.1002/ajmg.c.31327

  11. Copy number variation in the genomes of domestic animals

    Animal Genetics

    Volume 43, Issue 5, October 2012, Pages: 503–517, A. Clop, O. Vidal and M. Amills

    Version of Record online : 6 MAR 2012, DOI: 10.1111/j.1365-2052.2012.02317.x

  12. 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

  13. 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

  14. 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

  15. An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 899–907, Renjie Tan, Yadong Wang, Sarah E. Kleinstein, Yongzhuang Liu, Xiaolin Zhu, Hongzhe Guo, Qinghua Jiang, Andrew S. Allen and Mingfu Zhu

    Version of Record online : 1 MAY 2014, DOI: 10.1002/humu.22537

  16. Abortion, Public Health Policy, and Informed Consent Legislation

    Journal of Social Issues

    Volume 48, Issue 3, Fall 1992, Pages: 1–17, Gregory H. Wilmoth

    Version of Record online : 14 APR 2010, DOI: 10.1111/j.1540-4560.1992.tb00895.x

  17. Genome-wide copy number profiling using high-density SNP array in chickens

    Animal Genetics

    Volume 46, Issue 2, April 2015, Pages: 148–157, G. Yi, L. Qu, S. Chen, G. Xu and N. Yang

    Version of Record online : 6 FEB 2015, DOI: 10.1111/age.12267

  18. You have full text access to this OnlineOpen article
    Practitioner Review: What have we learnt about the causes of ADHD?

    Journal of Child Psychology and Psychiatry

    Volume 54, Issue 1, January 2013, Pages: 3–16, Anita Thapar, Miriam Cooper, Olga Eyre and Kate Langley

    Version of Record online : 11 SEP 2012, DOI: 10.1111/j.1469-7610.2012.02611.x

  19. PlatinumCNV: A Bayesian Gaussian mixture model for genotyping copy number polymorphisms using SNP array signal intensity data

    Genetic Epidemiology

    Volume 35, Issue 8, December 2011, Pages: 831–844, Natsuhiko Kumasaka, Hironori Fujisawa, Naoya Hosono, Yukinori Okada, Atsushi Takahashi, Yusuke Nakamura, Michiaki Kubo and Naoyuki Kamatani

    Version of Record online : 28 NOV 2011, DOI: 10.1002/gepi.20633

  20. A genome-wide scan for copy number variations using high-density single nucleotide polymorphism array in Simmental cattle

    Animal Genetics

    Volume 46, Issue 3, June 2015, Pages: 289–298, Yang Wu, Huizhong Fan, Shengyun Jing, Jiangwei Xia, Yan Chen, Lupei Zhang, Xue Gao, Junya Li, Huijiang Gao and Hongyan Ren

    Version of Record online : 27 APR 2015, DOI: 10.1111/age.12288