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There are 4016 results for: content related to: Characterization of germline copy number variation in high-risk African American families with prostate cancer

  1. 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

    Article first published online : 27 JUN 2012, DOI: 10.1111/j.1528-1167.2012.03559.x

  2. 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

    Article first published online : 30 SEP 2011, DOI: 10.1002/humu.21601

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    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

    Article first published online : 10 OCT 2013, DOI: 10.1002/humu.22442

  4. Gene copy number variation and common human disease

    Clinical Genetics

    Volume 77, Issue 3, March 2010, Pages: 201–213, M Fanciulli, E Petretto and TJ Aitman

    Article first published online : 10 DEC 2009, DOI: 10.1111/j.1399-0004.2009.01342.x

  5. 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

    Article first published online : 6 MAR 2012, DOI: 10.1111/j.1365-2052.2012.02317.x

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    Pathogenic or not? Assessing the clinical relevance of copy number variants

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 415–421, JY Hehir-Kwa, R Pfundt, JA Veltman and N de Leeuw

    Article first published online : 21 AUG 2013, DOI: 10.1111/cge.12242

  7. 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

    Article first published online : 26 JUL 2014, DOI: 10.1002/bdra.23279

  8. Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths

    Prenatal Diagnosis

    Volume 31, Issue 10, October 2011, Pages: 932–944, R. Alan Harris, Francesca Ferrari, Shay Ben-Shachar, Xiaoling Wang, George Saade, Ignatia Van Den Veyver, Fabio Facchinetti and Kjersti Aagaard-Tillery

    Article first published online : 5 JUL 2011, DOI: 10.1002/pd.2817

  9. Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 156, Issue 2, March 2011, Pages: 115–124, Anna Bremer, MaiBritt Giacobini, Mats Eriksson, Peter Gustavsson, Viviann Nordin, Elisabeth Fernell, Christopher Gillberg, Ann Nordgren, Åsa Uppströmer, Britt-Marie Anderlid, Magnus Nordenskjöld and Jacqueline Schoumans

    Article first published online : 8 DEC 2010, DOI: 10.1002/ajmg.b.31142

  10. Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis

    Muscle & Nerve

    Volume 44, Issue 4, October 2011, Pages: 492–498, Roger Pamphlett, Julia M. Morahan, Natasha Luquin and Bing Yu

    Article first published online : 8 AUG 2011, DOI: 10.1002/mus.22095

  11. 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

    Article first published online : 18 MAR 2009, DOI: 10.1002/humu.21015

  12. Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1439–1448, Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Todd Richmond, Joel Geoghegan, Kathleen O'Moore, Nicole de Leeuw, Christine Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman and Jayne Y. Hehir-Kwa

    Article first published online : 30 AUG 2013, DOI: 10.1002/humu.22387

  13. 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

    Article first published online : 9 DEC 2008, DOI: 10.1002/humu.20883

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    Segmental Copy-Number Variation Observed in Japanese by Array-CGH

    Annals of Human Genetics

    Volume 72, Issue 2, March 2008, Pages: 193–204, N. Takahashi, N. Tsuyama, K. Sasaki, M. Kodaira, Y. Satoh, Y. Kodama, K. Sugita and H. Katayama

    Article first published online : 20 JAN 2008, DOI: 10.1111/j.1469-1809.2007.00415.x

  15. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1427–1435, Roxana Kariminejad, Allan Lind-Thomsen, Zeynep Tümer, Fikret Erdogan, Hans H. Ropers, Niels Tommerup, Reinhard Ullmann and Rikke S. Møller

    Article first published online : 23 SEP 2011, DOI: 10.1002/humu.21585

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    The impact of human copy number variation on a new era of genetic testing

    BJOG: An International Journal of Obstetrics & Gynaecology

    Volume 117, Issue 4, March 2010, Pages: 391–398, KW Choy, SR Setlur, C Lee and TK Lau

    Article first published online : 26 JAN 2010, DOI: 10.1111/j.1471-0528.2009.02470.x

  17. Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future

    Human Mutation

    Volume 30, Issue 8, August 2009, Pages: 1139–1152, Maaike Alaerts and Jurgen Del-Favero

    Article first published online : 28 APR 2009, DOI: 10.1002/humu.21042

  18. You have free access to this content
    Copy number variation in autoimmunity — importance hidden in complexity?

    European Journal of Immunology

    Volume 42, Issue 8, August 2012, Pages: 1969–1976, Lina M. Olsson and Rikard Holmdahl

    Article first published online : 3 AUG 2012, DOI: 10.1002/eji.201242601

  19. 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

    Article first published online : 9 JUL 2007, DOI: 10.1002/humu.20581

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    Duplications in ADHD patients harbour neurobehavioural genes that are co-expressed with genes associated with hyperactivity in the mouse

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 168, Issue 2, March 2015, Pages: 97–107, Avigail Taylor, Julia Steinberg and Caleb Webber

    Article first published online : 5 FEB 2015, DOI: 10.1002/ajmg.b.32285