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There are 12510 results for: content related to: Impact of Genomewide Structural Variation on Gene Discovery

  1. Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 283–292, David A. Koolen, Rolph Pfundt, Nicole de Leeuw, Jayne Y. Hehir-Kwa, Willy M. Nillesen, Ineke Neefs, Ine Scheltinga, Erik Sistermans, Dominique Smeets, Han G. Brunner, Ad Geurts van Kessel, Joris A. Veltman and Bert B.A. de Vries

    Version of Record online : 9 DEC 2008, DOI: 10.1002/humu.20883

  2. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

    Human Mutation

    Volume 28, Issue 11, November 2007, Pages: 1124–1132, Yao-Shan Fan, Parul Jayakar, Hongbo Zhu, Deborah Barbouth, Stephanie Sacharow, Ana Morales, Virginia Carver, Paul Benke, Peter Mundy and Louis J. Elsas

    Version of Record online : 9 JUL 2007, DOI: 10.1002/humu.20581

  3. Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

    Human Mutation

    Volume 30, Issue 7, July 2009, Pages: 1082–1092, Dominic J. McMullan, Michael Bonin, Jayne Y. Hehir-Kwa, Bert B.A. de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw, Angelika Riess, Özge Altug-Teber, Herbert Enders, Sylke Singer, Ute Grasshoff, Michael Walter, Judith M. Walker, Catherine V. Lamb, E. Val Davison, Louise Brueton, Olaf Riess and Joris A. Veltman

    Version of Record online : 18 MAR 2009, DOI: 10.1002/humu.21015

  4. 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

  5. Array CGH in molecular diagnosis of mental retardation—A study of 150 Finnish patients

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1398–1410, Linda Siggberg, Sirpa Ala-Mello, Elisa Jaakkola, Esa Kuusinen, Robert Schuit, Jürgen Kohlhase, Detlef Böhm, Jaakko Ignatius and Sakari Knuutila

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33402

  6. Genomic microarray technologies for the cytogenetics laboratory

    The AGT Cytogenetics Laboratory Manual

    Bhavana J. Davé, Warren G. Sanger, Pages: 903–936, 2017

    Published Online : 4 MAR 2017, DOI: 10.1002/9781119061199.ch18

  7. Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 13, 1 July 2007, Pages: 1431–1441, Swaroop Aradhya, Melanie A. Manning, Alessandra Splendore and Athena M. Cherry

    Version of Record online : 13 JUN 2007, DOI: 10.1002/ajmg.a.31773

  8. Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1066–1078, Jonathan S. Berg, Lorraine Potocki and Carlos A. Bacino

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33185

  9. Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 760–766, Dorien Lugtenberg, Arjan P.M. de Brouwer, Astrid R. Oudakker, Rolph Pfundt, Ben C.J. Hamel, Hans van Bokhoven and Ernie M.H.F. Bongers

    Version of Record online : 16 MAR 2009, DOI: 10.1002/ajmg.a.32742

  10. Consequences of chromsome18q deletions

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

    Volume 169, Issue 3, September 2015, Pages: 265–280, Jannine D. Cody, Courtney Sebold, Patricia Heard, Erika Carter, Bridgette Soileau, Minire Hasi-Zogaj, Annice Hill, David Rupert, Brian Perry, Louise O'Donnell, Jon Gelfond, Jack Lancaster, Peter T. Fox and Daniel E. Hale

    Version of Record online : 3 AUG 2015, DOI: 10.1002/ajmg.c.31446

  11. Characterization of copy number-stable regions in the human genome

    Human Mutation

    Volume 32, Issue 8, August 2011, Pages: 947–955, Anna C.V. Johansson and Lars Feuk

    Version of Record online : 20 JUL 2011, DOI: 10.1002/humu.21524

  12. On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: 1075–1099, David N. Cooper, Albino Bacolla, Claude Férec, Karen M. Vasquez, Hildegard Kehrer-Sawatzki and Jian-Min Chen

    Version of Record online : 2 SEP 2011, DOI: 10.1002/humu.21557

  13. Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 1942–1954, Bixia Xiang, Ao Li, Dinu Valentin, Norma J. Nowak, Hongyu Zhao and Peining Li

    Version of Record online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32411

  14. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

    Human Mutation

    Volume 28, Issue 7, July 2007, Pages: 674–682, Reinhard Ullmann, Gillian Turner, Maria Kirchhoff, Wei Chen, Bruce Tonge, Carla Rosenberg, Michael Field, Angela M. Vianna-Morgante, Louise Christie, Ana C. Krepischi-Santos, Lynn Banna, Avril V. Brereton, Alyssa Hill, Anne-Marie Bisgaard, Ines Müller, Claus Hultschig, Fikret Erdogan, Georg Wieczorek and H. Hilger Ropers

    Version of Record online : 4 MAY 2007, DOI: 10.1002/humu.20546

  15. An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1671–1673, Chiara Barone, Antonio Novelli, Anna Capalbo, Antonella Cataliotti del Grano, Maria Grazia Giuffrida, Lara Indaco and Sebastiano Bianca

    Version of Record online : 9 APR 2015, DOI: 10.1002/ajmg.a.37054

  16. You have free access to this content
    Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 787–796, Erin Rooney Riggs, Laird Jackson, David T. Miller and Steven Van Vooren

    Version of Record online : 20 MAR 2012, DOI: 10.1002/humu.22052

  17. Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 16, 15 August 2007, Pages: 1858–1867, Ilse Feenstra, Lisenka E.L.M. Vissers, Mirjam Orsel, Ad Geurts van Kessel, Han G. Brunner, Joris A. Veltman and Conny M.A. van Ravenswaaij-Arts

    Version of Record online : 13 JUL 2007, DOI: 10.1002/ajmg.a.31850

  18. Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 10, 15 May 2008, Pages: 1330–1334, Karen Buysse, Björn Menten, Ann Oostra, Sylvie Tavernier, Geert R. Mortier and Frank Speleman

    Version of Record online : 15 APR 2008, DOI: 10.1002/ajmg.a.32267

  19. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 165–179, Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth S. Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, Jacques S. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann S. Martin, Suneeta Madan-Khetarpal, Jacqueline Hoover, Livija Medne, Carsten G. Bonnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie C. Banks, David B. Flannery, Carolyn M. Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer L. Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung-Hae L. Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung and Lisa G. Shaffer

    Version of Record online : 2 NOV 2011, DOI: 10.1002/humu.21614

  20. Genomic and clinical characteristics of microduplications in chromosome 17

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1101–1110, Oleg A. Shchelochkov, S.W. Cheung and J.R. Lupski

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33248