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There are 2747218 results for: content related to: Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia

  1. You have free access to this content
    Extramedullary myeloma whole genome sequencing reveals novel mutations in Cereblon, proteasome subunit G2 and the glucocorticoid receptor in multi drug resistant disease

    British Journal of Haematology

    Volume 161, Issue 5, June 2013, Pages: 748–751, Jan B. Egan, K. Martin Kortuem, Ahmet Kurdoglu, Tyler Izatt, Jessica Aldrich, Rebecca Reiman, Lori Phillips, Angela Baker, Chang-Xin Shi, Jessica Schmidt, Winnie S. Liang, David W. Craig, John D. Carpten and A. Keith Stewart

    Article first published online : 11 MAR 2013, DOI: 10.1111/bjh.12291

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    Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma

    Experimental Dermatology

    Volume 24, Issue 2, February 2015, Pages: 152–155, Santasree Banerjee, Yunqing Ren, Tianying Wei, Zhongwei Zhou, Ping Yu, Fenghui Guan, Xiaonming Wei, Sheng Ye, Shaofeng Yan, Min Zheng, Michael L Raff and Ming Qi

    Article first published online : 27 JAN 2015, DOI: 10.1111/exd.12610

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    Failure to verify H-ras mutations in arthritic synovium: Comment on the article by Roivainen et al

    Arthritis & Rheumatism

    Volume 44, Issue 11, November 2001, Page: 2705, Anne Roivainen, Fei Zhu, Esa Sipola, Tuomas Yli-Jama and Paavo Toivanen

    Article first published online : 7 NOV 2001, DOI: 10.1002/1529-0131(200111)44:11<2705::AID-ART452>3.0.CO;2-5

  4. You have full text access to this OnlineOpen article
    Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 288–290, F Ariani, F Mari, S Amitrano, C Di Marco, R Artuso, E Scala, I Meloni, R Della Volpe, A Rossi, H van Bokhoven and A Renieri

    Article first published online : 23 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01901.x

  5. Re: Stoehr et al. Lack of evidence for frequent MED12 p.L1224F mutation in prostate tumours from Caucasian patients. J Pathol 2013; 230: 453–456

    The Journal of Pathology

    Volume 231, Issue 2, October 2013, Page: 271, Christopher E Barbieri, Andrea Sboner, Mark A Rubin and Levi A Garraway

    Article first published online : 10 SEP 2013, DOI: 10.1002/path.4216

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    Arthritis & Rheumatism

    Volume 54, Issue 8, August 2006, Pages: 2704–2705, Megumu Saito, Akihiro Fujisawa, Ryuta Nishikomori, Naotomo Kambe, Yoshiki Miyachi, Toshio Heike and Tatsutoshi Nakahata

    Article first published online : 26 JUL 2006, DOI: 10.1002/art.22151

  7. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 595–597, C. Baquero-Montoya, M.C. Gil-Rodríguez, D. Braunholz, M.E. Teresa-Rodrigo, C. Obieglo, B. Gener, T. Schwarzmayr, T.M. Strom, P. Gómez-Puertas, B. Puisac, G. Gillessen-Kaesbach, A. Musio, F.J. Ramos, F.J. Kaiser and J. Pié

    Article first published online : 26 JAN 2014, DOI: 10.1111/cge.12333

  8. Mutations in exon 2 of TBX3 are rare in common human tumors


    Volume 122, Issue 2, February 2014, Pages: 161–163, Nam Jin Yoo, Min Sung Kim and Sug Hyung Lee

    Article first published online : 8 MAY 2013, DOI: 10.1111/apm.12106

  9. A comparative study of the accuracy of several de novo sequencing software packages for datasets derived by matrix-assisted laser desorption/ionisation and electrospray

    Rapid Communications in Mass Spectrometry

    Volume 22, Issue 21, 15 November 2008, Pages: 3450–3454, Scott Bringans, Tulene S. Kendrick, James Lui and Richard Lipscombe

    Article first published online : 7 OCT 2008, DOI: 10.1002/rcm.3752

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    Next generation RNA-sequencing in prognostic subsets of chronic lymphocytic leukemia

    American Journal of Hematology

    Volume 87, Issue 7, July 2012, Pages: 737–740, Larry Mansouri, Rebeqa Gunnarsson, Lesley-Ann Sutton, Adam Ameur, Sean D Hooper, Markus Mayrhofer, Gunnar Juliusson, Anders Isaksson, Ulf Gyllensten and Richard Rosenquist

    Article first published online : 3 JUN 2012, DOI: 10.1002/ajh.23227

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    Specificity of TP53 mutation screening methods in cancerous tissues

    International Journal of Cancer

    Volume 118, Issue 1, 1 January 2006, Pages: 254–255, Jean Breton, Mathilde Lechevrel and François Sichel

    Article first published online : 7 JUL 2005, DOI: 10.1002/ijc.21223

  12. A rare mutation in a rare tumor—SMARCB1-deficient malignant glomus tumor

    Genes, Chromosomes and Cancer

    Volume 55, Issue 1, January 2016, Pages: 107–109, Bartosz Dabek, Andrzej Kram, Jadwiga Kubrak, Mateusz Kurzawski, Piotr Wojcik, Marcin M. Machnicki, Tomasz Stoklosa, Malgorzata Rydzanicz, Rafal Ploski and Maria Debiec-Rychter

    Article first published online : 22 SEP 2015, DOI: 10.1002/gcc.22296

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    Mutations of BRAF and KRAS in gastric cancer and their association with microsatellite instability

    International Journal of Cancer

    Volume 108, Issue 1, 1 January 2004, Pages: 167–169, Wei Zhao, Tsun Leung Chan, Kent-Man Chu, Annie S. Chan, Michael R. Stratton, Siu Tsan Yuen and Suet Yi Leung

    Article first published online : 7 OCT 2003, DOI: 10.1002/ijc.11553

  14. Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 488–490, E Papari, M Bastami, A Farhadi, SS Abedini, M Hosseini, I Bahman, M Mohseni, M Garshasbi, L Abbasi Moheb, F Behjati, K Kahrizi, H-H Ropers and H Najmabadi

    Article first published online : 18 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01949.x

  15. A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 290–292, G. Schottmann, W. Stenzel, S. Lützkendorf, M. Schuelke and E. Knierim

    Article first published online : 25 MAR 2013, DOI: 10.1111/cge.12137

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    SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 388–391, ND Rendtorff, I Schrijver, M Lodahl, J Rodriguez-Paris, T Johnsen, EC Hansén, LAA Nickelsen, Z Tümer, T Fagerheim, R Wetke and L Tranebjærg

    Article first published online : 22 JAN 2013, DOI: 10.1111/cge.12074

  17. Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain

    International Journal of Laboratory Hematology

    Volume 35, Issue 5, October 2013, Pages: e27–e28, C. Bento, H. Almeida, C. Fernandez-Lago and M. L. Ribeiro

    Article first published online : 22 MAR 2013, DOI: 10.1111/ijlh.12061

  18. Clonal evolution of acute myeloid leukemia relapsed after 19 years of remission

    American Journal of Hematology

    Volume 90, Issue 7, July 2015, Pages: E134–E135, Koichi Takahashi, Whijae Roh, Jianhua Zhang, Alexei Propotopov, Keyur Patel, Stephen Strickland, Annette Kim, Cindy Vnencak-Jones, Sarah Pelletier, Simrit Parmar, Guillermo Garcia-Manero, Steven Kornblau, Lynda Chin, Hagop Kantarjian, P. Andrew Futreal and Farhad Ravandi

    Article first published online : 22 JUN 2015, DOI: 10.1002/ajh.24009

  19. Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort

    Movement Disorders

    Volume 28, Issue 12, October 2013, Pages: 1752–1753, Jeremy R.B. Newman, Alexander C. Lehn, Richard S. Boyle, Peter A. Silburn and George D. Mellick

    Article first published online : 6 MAY 2013, DOI: 10.1002/mds.25479

  20. Absence of KMT2D/MLL2 mutations in abdominal paraganglioma

    Clinical Endocrinology

    Adam Stenman, Carl C. Juhlin, Felix Haglund, Taylor C. Brown, Victoria E. Clark, Fredrika Svahn, Kaya Bilguvar, Gerald Goh, Reju Korah, Richard P. Lifton and Tobias Carling

    Article first published online : 22 SEP 2015, DOI: 10.1111/cen.12884