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There are 34562 results for: content related to: WDR45 mutations define a novel disease entity—Static Encephalopathy of Childhood with Neurodegeneration in Adulthood

  1. You have full text access to this OnlineOpen article
    A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2388–2390, Tadashi Ozawa, Reiji Koide, Yasuhiro Nakata, Hirotomo Saitsu, Naomichi Matsumoto, Kazushi Takahashi, Imaharu Nakano and Satoshi Orimo

    Article first published online : 10 JUL 2014, DOI: 10.1002/ajmg.a.36635

  2. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12196

  3. WDR1 colocalizes with ADF and actin in the normal and noise-damaged chick cochlea

    Journal of Comparative Neurology

    Volume 448, Issue 4, 8 July 2002, Pages: 399–409, Seung-Ha Oh, Henry J. Adler, Yehoash Raphael and Margaret I. Lomax

    Article first published online : 28 MAY 2002, DOI: 10.1002/cne.10265

  4. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Article first published online : 17 FEB 2015, DOI: 10.1111/cge.12550

  5. The Struggle for Alternatives: NGOs’ Responses to the World Development Report 2008

    Journal of Agrarian Change

    Volume 9, Issue 2, April 2009, Pages: 277–290, MATTEO RIZZO

    Article first published online : 20 MAR 2009, DOI: 10.1111/j.1471-0366.2009.00206.x

  6. You have free access to this content
    Biosynthesis of Wdr16, a marker protein for kinocilia-bearing cells, starts at the time of kinocilia formation in rat, and wdr16 gene knockdown causes hydrocephalus in zebrafish

    Journal of Neurochemistry

    Volume 101, Issue 1, April 2007, Pages: 274–288, Wolfgang Hirschner, Hans-Martin Pogoda, Carina Kramer, Ulrike Thiess, Bernd Hamprecht, Karl-Heinz Wiesmüller, Matthias Lautner and Stephan Verleysdonk

    Article first published online : 13 MAR 2007, DOI: 10.1111/j.1471-4159.2007.04500.x

  7. You have free access to this content
    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

    Article first published online : 21 JUN 2010, DOI: 10.1002/dvdy.22355

  8. 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

    Article first published online : 7 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01932.x

  9. 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

    Article first published online : 13 MAY 2011, DOI: 10.1002/ajmg.a.33980

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    Expression of the Wdr9 gene and protein products during mouse development

    Developmental Dynamics

    Volume 227, Issue 4, August 2003, Pages: 608–614, He Huang, Isabel Rambaldi, Eugene Daniels and Mark Featherstone

    Article first published online : 7 JUL 2003, DOI: 10.1002/dvdy.10344

  11. Early manifestations of BPAN in a pediatric patient

    American Journal of Medical Genetics Part A

    Volume 164, Issue 12, December 2014, Pages: 3095–3099, Nobuhiko Okamoto, Tae Ikeda, Tatsuji Hasegawa, Yuto Yamamoto, Kazumi Kawato, Tomohiro Komoto and Issei Imoto

    Article first published online : 26 SEP 2014, DOI: 10.1002/ajmg.a.36779

  12. Autophagy and neurodegeneration — genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link

    Movement Disorders

    Volume 28, Issue 8, July 2013, Page: 1050, Darius Ebrahimi-Fakhari

    Article first published online : 12 AUG 2013, DOI: 10.1002/mds.25563

  13. WDR26: A novel Gβ-like protein, suppresses MAPK signaling pathway

    Journal of Cellular Biochemistry

    Volume 93, Issue 3, 15 October 2004, Pages: 579–587, Ying Zhu, Yuequn Wang, Chunzhi Xia, Dali Li, Yongqing Li, Weiqi Zeng, Wuzhou Yuan, Hui Liu, Chuanbing Zhu, Xiushan Wu and Mingyao Liu

    Article first published online : 11 AUG 2004, DOI: 10.1002/jcb.20175

  14. WDR1 expression in normal and noise-damaged Sprague-Dawley rat cochleae

    Journal of Comparative Neurology

    Volume 521, Issue 7, 1 May 2013, Pages: 1470–1481, Jae-Jin Song, Henry J. Adler, Ho Sun Lee, Jeong Hun Jang, Min-Hyun Park, Jun Ho Lee, Sun O Chang and Seung Ha Oh

    Article first published online : 18 MAR 2013, DOI: 10.1002/cne.23197

  15. Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration

    Movement Disorders

    Volume 29, Issue 4, April 2014, Pages: 574–575, Geetanjali S. Rathore, Christian P. Schaaf and Amber J. Stocco

    Article first published online : 7 MAR 2014, DOI: 10.1002/mds.25868

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    Predictable patterns of constraint among anthocyanin-regulating transcription factors in Ipomoea

    New Phytologist

    Volume 191, Issue 1, July 2011, Pages: 264–274, Matthew A. Streisfeld, Danya Liu and Mark D. Rausher

    Article first published online : 2 MAR 2011, DOI: 10.1111/j.1469-8137.2011.03671.x

  17. You have free access to this content
    Nucleolar scaffold protein, WDR46, determines the granular compartmental localization of nucleolin and DDX21

    Genes to Cells

    Volume 18, Issue 9, September 2013, Pages: 780–797, Yuya Hirai, Emilie Louvet, Toshiyuki Oda, Masahiro Kumeta, Yuzo Watanabe, Tsuneyoshi Horigome and Kunio Takeyasu

    Article first published online : 15 JUL 2013, DOI: 10.1111/gtc.12077

  18. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 532–540, V Bhat, SC Girimaji, G Mohan, HR Arvinda, P Singhmar, MR Duvvari and A Kumar

    Article first published online : 16 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01686.x

  19. 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

    Article first published online : 19 MAY 2014, DOI: 10.1002/ajmg.a.36611

  20. Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

    Clinical Genetics

    Volume 83, Issue 1, January 2013, Pages: 92–95, JL Hoffer, H Fryssira, AE Konstantinidou, H−H Ropers and A Tzschach

    Article first published online : 9 APR 2012, DOI: 10.1111/j.1399-0004.2012.01880.x