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There are 23960 results for: content related to: Somatic mosaicism for copy number variation in differentiated human tissues

  1. Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

    Human Mutation

    Volume 29, Issue 3, March 2008, Pages: 398–408, Teresita Díaz de Ståhl, Johanna Sandgren, Arkadiusz Piotrowski, Helena Nord, Robin Andersson, Uwe Menzel, Adam Bogdan, Ann-Charlotte Thuresson, Andrzej Poplawski, Desiree von Tell, Caisa M. Hansson, Amir I. Elshafie, Gehad ElGhazali, Stephan Imreh, Magnus Nordenskjöld, Meena Upadhyaya, Jan Komorowski, Carl E.G. Bruder and Jan P. Dumanski

    Version of Record online : 30 NOV 2007, DOI: 10.1002/humu.20659

  2. 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

    Version of Record online : 28 APR 2009, DOI: 10.1002/humu.21042

  3. 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

    Version of Record online : 10 DEC 2009, DOI: 10.1111/j.1399-0004.2009.01342.x

  4. 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

  5. You have free access to this content
    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

    Version of Record online : 21 AUG 2013, DOI: 10.1111/cge.12242

  6. 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

    Version of Record online : 8 AUG 2011, DOI: 10.1002/mus.22095

  7. 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

  8. 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

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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

    Version of Record online : 20 JAN 2008, DOI: 10.1111/j.1469-1809.2007.00415.x

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    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

    Version of Record online : 3 AUG 2012, DOI: 10.1002/eji.201242601

  11. 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

  12. Copy number variation plays an important role in clinical epilepsy

    Annals of Neurology

    Volume 75, Issue 6, June 2014, Pages: 943–958, Heather Olson, Yiping Shen, Jennifer Avallone, Beth R. Sheidley, Rebecca Pinsky, Ann M. Bergin, Gerard T. Berry, Frank H. Duffy, Yaman Eksioglu, David J. Harris, Fuki M. Hisama, Eugenia Ho, Mira Irons, Christina M. Jacobsen, Philip James, Sanjeev Kothare, Omar Khwaja, Jonathan Lipton, Tobias Loddenkemper, Jennifer Markowitz, Kiran Maski, J. Thomas Megerian, Edward Neilan, Peter C. Raffalli, Michael Robbins, Amy Roberts, Eugene Roe, Caitlin Rollins, Mustafa Sahin, Dean Sarco, Alison Schonwald, Sharon E. Smith, Janet Soul, Joan M. Stoler, Masanori Takeoka, Wen-Han Tan, Alcy R. Torres, Peter Tsai, David K. Urion, Laura Weissman, Robert Wolff, Bai-Lin Wu, David T. Miller and Annapurna Poduri

    Version of Record online : 13 JUN 2014, DOI: 10.1002/ana.24178

  13. Copy number variations in multiple sclerosis and neuromyelitis optica

    Annals of Neurology

    Volume 78, Issue 5, November 2015, Pages: 762–774, Shinya Sato, Ken Yamamoto, Takuya Matsushita, Noriko Isobe, Yuji Kawano, Kyoko Iinuma, Masaaki Niino, Toshiyuki Fukazawa, Yuri Nakamura, Mitsuru Watanabe, Tomomi Yonekawa, Katsuhisa Masaki, Satoshi Yoshimura, Hiroyuki Murai, Ryo Yamasaki, Jun-ichi Kira and and the Japan Multiple Sclerosis Genetics Consortium

    Version of Record online : 18 SEP 2015, DOI: 10.1002/ana.24511

  14. 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

  15. Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies

    Congenital Heart Disease

    Volume 6, Issue 6, November/December 2011, Pages: 592–602, Elizabeth Goldmuntz, Prasuna Paluru, Joseph Glessner, Hakon Hakonarson, Jaclyn A. Biegel, Peter S. White, Xiaowu Gai and Tamim H. Shaikh

    Version of Record online : 20 OCT 2011, DOI: 10.1111/j.1747-0803.2011.00582.x

  16. 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

    Version of Record online : 30 AUG 2013, DOI: 10.1002/humu.22387

  17. 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

    Version of Record 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

    Version of Record online : 26 JAN 2010, DOI: 10.1111/j.1471-0528.2009.02470.x

  19. 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

  20. 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