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There are 25381 results for: content related to: Mutations in WDR62 , encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

  1. WDR62 missense mutation in a consanguineous family with primary microcephaly

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 622–625, Carlos A. Bacino, Luis A. Arriola, Joanna Wiszniewska and Penelope E. Bonnen

    Version of Record online : 3 FEB 2012, DOI: 10.1002/ajmg.a.34417

  2. Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2161–2171, Cathryn J. Poulton, Rachel Schot, Katja Seufert, Maarten H. Lequin, Andrea Accogli, Giuseppe D' Annunzio, Laurent Villard, Nicole Philip, René de Coo, Coriene Catsman-Berrevoets, Ute Grasshoff, Anja Kattentidt-Mouravieva, Hans Calf, Erika de Vreugt-Gronloh, Leontine van Unen, Frans W. Verheijen, Niels Galjart, Deborah J. Morris-Rosendahl and Grazia M. S. Mancini

    Version of Record online : 19 MAY 2014, DOI: 10.1002/ajmg.a.36611

  3. WDR62 overexpression is associated with a poor prognosis in patients with lung adenocarcinoma

    Molecular Carcinogenesis

    Volume 56, Issue 8, August 2017, Pages: 1984–1991, Kazuya Shinmura, Hisami Kato, Yuichi Kawanishi, Hisaki Igarashi, Yusuke Inoue, Katsuhiro Yoshimura, Satoki Nakamura, Hidehiko Fujita, Kazuhito Funai, Masayuki Tanahashi, Hiroshi Niwa, Hiroshi Ogawa and Haruhiko Sugimura

    Version of Record online : 30 MAR 2017, DOI: 10.1002/mc.22647

  4. Genetic heterogeneity in Pakistani microcephaly families

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 446–451, M Sajid Hussain, S Marriam Bakhtiar, M Farooq, I Anjum, E Janzen, M Reza Toliat, H Eiberg, KW Kjaer, N Tommerup, AA Noegel, P Nürnberg, SM Baig and L Hansen

    Version of Record online : 7 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01932.x

  5. Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 132–133, SS Sanders

    Version of Record online : 19 NOV 2010, DOI: 10.1111/j.1399-0004.2010.01585.x

  6. Variants in CUL4B are Associated with Cerebral Malformations

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 106–117, Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, Stefan A. Haas, Hao Hu, Melanie Bienek, Lisenka E.L.M. Vissers, Christian Gilissen, Andreas Tzschach, Andreas Busche, Jörg Müsebeck, Patrick Rump, Inge B. Mathijssen, Kristiina Avela, Mirja Somer, Fatma Doagu, Anju K. Philips, Anita Rauch, Alessandra Baumer, Krysta Voesenek, Karine Poirier, Jacqueline Vigneron, Daniel Amram, Sylvie Odent, Magdalena Nawara, Ewa Obersztyn, Jacek Lenart, Agnieszka Charzewska, Nicolas Lebrun, Ute Fischer, Willy M. Nillesen, Helger G. Yntema, Irma Järvelä, Hans-Hilger Ropers, Bert B.A. de Vries, Han G. Brunner, Hans van Bokhoven, F. Lucy Raymond, Michèl A.A.P. Willemsen, Jamel Chelly, Yue Xiong, A. James Barkovich, Vera M. Kalscheuer, Tjitske Kleefstra and Arjan P.M. de Brouwer

    Version of Record online : 30 DEC 2014, DOI: 10.1002/humu.22718

  7. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria

    American Journal of Medical Genetics Part A

    Volume 155, Issue 9, September 2011, Pages: 2071–2077, David R. Murdock, Gary D. Clark, Matthew N. Bainbridge, Irene Newsham, Yuan-Qing Wu, Donna M. Muzny, Sau Wai Cheung, Richard A. Gibbs and Melissa B. Ramocki

    Version of Record online : 10 AUG 2011, DOI: 10.1002/ajmg.a.34165

  8. Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly

    Congenital Anomalies

    Volume 56, Issue 3, May 2016, Pages: 135–137, Fatma Bastaki, Madiha Mohamed, Pratibha Nair, Fatima Saif, Nafisa Tawfiq, Gururaj Aithala, Majdi El-Halik, Mahmoud Al-Ali and Abdul Rezzak Hamzeh

    Version of Record online : 24 APR 2016, DOI: 10.1111/cga.12144

  9. Genetic heterogeneity in Pakistani microcephaly families revisited

    Clinical Genetics

    Volume 92, Issue 1, July 2017, Pages: 62–68, I. Ahmad, S. M. Baig, A. R. Abdulkareem, M. S. Hussain, I. Sur, M. R. Toliat, G. Nürnberg, N. Dalibor, A. Moawia, S. S. Waseem, M. Asif, H. Nagra, M. Sher, M. M. A. Khan, I. Hassan, S. ur Rehman, H. Thiele, J. Altmüller, A. A. Noegel and P. Nürnberg

    Version of Record online : 22 FEB 2017, DOI: 10.1111/cge.12955

  10. Mind the Methyl: Methyllysine Binding Proteins in Epigenetic Regulation

    ChemMedChem

    Volume 9, Issue 3, March 2014, Pages: 466–483, Tobias Wagner, Dr. Dina Robaa, Prof. Dr. Wolfgang Sippl and Prof. Dr. Manfred Jung

    Version of Record online : 21 JAN 2014, DOI: 10.1002/cmdc.201300422

  11. Periadventitial delivery of anti-EGF receptor antibody inhibits neointimal macrophage accumulation after angioplasty in a hypercholesterolaemic rabbit

    International Journal of Experimental Pathology

    Volume 91, Issue 3, June 2010, Pages: 224–234, Shahida Shafi, David Lamb, Helmout Modjtahedi and Gordon Ferns

    Version of Record online : 11 DEC 2009, DOI: 10.1111/j.1365-2613.2009.00700.x

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    Multiscale chemical heterogeneities beneath the eastern Southwest Indian Ridge (52°E–68°E): Trace element compositions of along-axis dredged peridotites

    Geochemistry, Geophysics, Geosystems

    Volume 12, Issue 9, September 2011, Monique Seyler, Daniele Brunelli, Michael J. Toplis and Catherine Mével

    Version of Record online : 15 SEP 2011, DOI: 10.1029/2011GC003585

  13. Polymicrogyria: A common and heterogeneous malformation of cortical development

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

    Volume 166, Issue 2, June 2014, Pages: 227–239, Chloe A. Stutterd and Richard J. Leventer

    Version of Record online : 28 MAY 2014, DOI: 10.1002/ajmg.c.31399

  14. Malformations of cortical development

    Annals of Neurology

    Volume 80, Issue 6, December 2016, Pages: 797–810, Rahul S. Desikan and A. James Barkovich

    Version of Record online : 11 NOV 2016, DOI: 10.1002/ana.24793

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    Exploring microcephaly and human brain evolution

    Developmental Medicine & Child Neurology

    Volume 54, Issue 7, July 2012, Pages: 580–581, JENNIE E MURRAY and ANDREW P JACKSON

    Version of Record online : 9 MAY 2012, DOI: 10.1111/j.1469-8749.2012.04330.x

  16. Lissencephaly: Expanded imaging and clinical classification

    American Journal of Medical Genetics Part A

    Volume 173, Issue 6, June 2017, Pages: 1473–1488, Nataliya Di Donato, Sara Chiari, Ghayda M. Mirzaa, Kimberly Aldinger, Elena Parrini, Carissa Olds, A. James Barkovich, Renzo Guerrini and William B. Dobyns

    Version of Record online : 25 APR 2017, DOI: 10.1002/ajmg.a.38245

  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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    Oda16/Wdr69 is essential for axonemal dynein assembly and ciliary motility during zebrafish embryogenesis

    Developmental Dynamics

    Volume 239, Issue 8, August 2010, Pages: 2190–2197, Chunlei Gao, Guangliang Wang, Jeffrey D. Amack and David R. Mitchell

    Version of Record online : 21 JUN 2010, DOI: 10.1002/dvdy.22355

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    Interleukin-1 stimulated activation of the COT catalytic subunit through the phosphorylation of Thr290 and Ser62

    FEBS Letters

    Volume 580, Issue 16, July 10, 2006, Pages: 4010–4014, Margaret J. Stafford, Nick A. Morrice, Mark W. Peggie and Philip Cohen

    Version of Record online : 15 JUN 2006, DOI: 10.1016/j.febslet.2006.06.004

  20. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1314–1321, Nicholas K. Rorick, Akira Kinoshita, Jason L. Weirather, Myriam Peyrard-Janvid, Renata L. L. Ferreira de Lima, Martine Dunnwald, Alan L. Shanske, Danilo Moretti-Ferreira, Hannele Koillinen, Juha Kere, Maria A. Mansilla, Jeffrey C. Murray, Steve L. Goudy and Brian C. Schutte

    Version of Record online : 13 MAY 2011, DOI: 10.1002/ajmg.a.33980