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There are 35213 results for: content related to: In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males

  1. Distinct regional and subcellular localization of the actin-binding protein filamin a in the mature rat brain

    Journal of Comparative Neurology

    Volume 520, Issue 13, 1 September 2012, Pages: 3013–3034, Yoav Noam, Lise Phan, Shawn McClelland, Erik M. Manders, Markus U. Ehrengruber, Wytse J. Wadman, Tallie Z. Baram and Yuncai Chen

    Version of Record online : 7 JUL 2012, DOI: 10.1002/cne.23106

  2. Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1323–1328, Burkhard S. Kasper, Katrin Kurzbuch, Bernard S. Chang, Elisabeth Pauli, Hajo M. Hamer, Jürgen Winkler and Ute Hehr

    Version of Record online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35917

  3. You have free access to this content
    Filamin A regulates monocyte migration through Rho small GTPases during osteoclastogenesis

    Journal of Bone and Mineral Research

    Volume 25, Issue 5, May 2010, Pages: 1077–1091, Roland Leung, Yongqiang Wang, Karl Cuddy, Chunxiang Sun, Joyce Magalhaes, Marc Grynpas and Michael Glogauer

    Version of Record online : 14 DEC 2009, DOI: 10.1359/jbmr.091114

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    Filamin a mediates HGF/c-MET signaling in tumor cell migration

    International Journal of Cancer

    Volume 128, Issue 4, 15 February 2011, Pages: 839–846, Alex-Xianghua Zhou, Aslı Toylu, Rajesh K. Nallapalli, Gisela Nilsson, Neşe Atabey, Carl-Henrik Heldin, Jan Borén, Martin O. Bergo and Levent M. Akyürek

    Version of Record online : 27 APR 2010, DOI: 10.1002/ijc.25417

  5. Novel no-stop FLNA mutation causes multi-organ involvement in males

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2376–2384, Renske Oegema, Jessie M. Hulst, Sabine D.M. Theuns-Valks, Leontine M.A. van Unen, Rachel Schot, Grazia M.S. Mancini, Marguerite E.I. Schipper, Marie C.Y. de Wit, Barbara J. Sibbles, Irenaeus F.M. de Coo, Veerle Nanninga, Robert M.W. Hofstra, Dicky J.J. Halley and Alice S. Brooks

    Version of Record online : 19 JUL 2013, DOI: 10.1002/ajmg.a.36109

  6. Deletion of filamin A in two female patients with periventricular nodular heterotopia

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1512–1516, Jodi Warman Chardon, Cyril Mignot, Swaroop Aradhya, Boris Keren, Alexandra Afenjar, Anna Kaminska, Cherif Beldjord, Delphine Héron and Kym M. Boycott

    Version of Record online : 20 APR 2012, DOI: 10.1002/ajmg.a.35409

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    Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 665–673, Philip B. Daniel, Tim Morgan, Yasemin Alanay, Emilia Bijlsma, Tae-Joon Cho, Trevor Cole, Felicity Collins, Albert David, Koen Devriendt, Laurence Faivre, Shiro Ikegawa, Sebastien Jacquemont, Milos Jesic, Deborah Krakow, Daniela Liebrecht, Silvia Maitz, Sandrine Marlin, Gilles Morin, Toshiya Nishikubo, Gen Nishimura, Trine Prescott, Gioacchino Scarano, Yousef Shafeghati, Flemming Skovby, Seiji Tsutsumi, Margo Whiteford, Martin Zenker and Stephen P. Robertson

    Version of Record online : 23 JAN 2012, DOI: 10.1002/humu.22012

  8. A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

    American Journal of Medical Genetics Part A

    Volume 170, Issue 4, April 2016, Pages: 881–890, Melissa Lah, Tejasvi Niranjan, Sujata Srikanth, Lynda Holloway, Charles E. Schwartz, Tao Wang and David D. Weaver

    Version of Record online : 24 JAN 2016, DOI: 10.1002/ajmg.a.37567

  9. Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 16, 15 August 2006, Pages: 1726–1736, Stephen P. Robertson, Zandra A. Jenkins, Timothy Morgan, Lesley Adès, Salim Aftimos, Odile Boute, Torunn Fiskerstrand, Sixto Garcia-Miñaur, Arthur Grix, Andrew Green, Vazken Der Kaloustian, Ray Lewkonia, Brenda McInnes, Mieke M. van Haelst, Grazia Macini, Tamás Illés, Geert Mortier, Ruth Newbury-Ecob, Linda Nicholson, Charles I. Scott, Karolina Ochman, Izabela Brożek, Deborah J. Shears, Andrea Superti-Furga, Mohnish Suri, Margo Whiteford, Andrew O.M. Wilkie and Deborah Krakow

    Version of Record online : 11 JUL 2006, DOI: 10.1002/ajmg.a.31322

  10. Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 10, 15 May 2006, Pages: 1041–1046, Marion Gérard-Blanluet, Volney Sheen, Kalotina Machinis, Jason Neal, Kira Apse, Claude Danan, Martine Sinico, Pierre Brugières, Katia Mage, Lanto Ratsimbazafy, Annie Elbez, Jean-Claude Janaud, Serge Amselem, Christopher Walsh and Férechté Encha-Razavi

    Version of Record online : 4 APR 2006, DOI: 10.1002/ajmg.a.31197

  11. R-Ras interacts with filamin a to maintain endothelial barrier function

    Journal of Cellular Physiology

    Volume 226, Issue 9, September 2011, Pages: 2287–2296, G.S. Griffiths, M. Grundl, J.S. Allen III and M.L. Matter

    Version of Record online : 9 JUN 2011, DOI: 10.1002/jcp.22565

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    Cyclin B1/Cdk1 binds and phosphorylates Filamin A and regulates its ability to cross-link actin

    FEBS Letters

    Volume 581, Issue 8, April 17, 2007, Pages: 1661–1672, I. Howard Cukier, Yun Li and Jonathan M. Lee

    Version of Record online : 28 MAR 2007, DOI: 10.1016/j.febslet.2007.03.041

  13. Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: Insights into the cause of periventricular heterotopia

    Journal of Comparative Neurology

    Volume 494, Issue 3, 20 January 2006, Pages: 476–484, Jie Lu, Grace Tiao, Rebecca Folkerth, Jonathon Hecht, Christopher Walsh and Volney Sheen

    Version of Record online : 30 NOV 2005, DOI: 10.1002/cne.20806

  14. You have free access to this content
    Ehlers–Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA

    American Journal of Medical Genetics Part A

    Volume 173, Issue 1, January 2017, Pages: 169–176, Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Giulia Carini, Valeria Cinquina, Nicola Chiarelli, Silvia Majore, Marina Colombi and Marco Castori

    Version of Record online : 14 OCT 2016, DOI: 10.1002/ajmg.a.38004

  15. Genotype–epigenotype–phenotype correlations in females with frontometaphyseal dysplasia

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 10, 15 May 2006, Pages: 1069–1073, Martin Zenker, Lutz Nährlich, Heinrich Sticht, André Reis and Denise Horn

    Version of Record online : 4 APR 2006, DOI: 10.1002/ajmg.a.31213

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    Mutation in Filamin A Causes Periventricular Heterotopia, Developmental Regression, and West Syndrome in Males


    Volume 47, Issue 1, January 2006, Pages: 211–214, Marcelo R. Masruha, Luis O. S. F. Caboclo, Henrique Carrete Jr., Íscia L. Cendes, Murilo G. Rodrigues, Eliana Garzon, Elza M. T. Yacubian, Américo C. Sakamoto, Volney Sheen, Megan Harney, Jason Neal, R. Sean Hill, Adria Bodell, Christopher Walsh and Luiz C. P. Vilanova

    Version of Record online : 10 JAN 2006, DOI: 10.1111/j.1528-1167.2006.00390.x

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    The clinical spectrum of nodular heterotopias in children: Report of 31 patients


    Volume 52, Issue 4, April 2011, Pages: 728–737, Myriam Srour, Marie-France Rioux, Caroline Varga, Anne Lortie, Philippe Major, Yves Robitaille, Jean-Claude Décarie, Jacques Michaud and Lionel Carmant

    Version of Record online : 14 FEB 2011, DOI: 10.1111/j.1528-1167.2010.02975.x

  18. Filamin A mutation is one cause of FG syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 16, 15 August 2007, Pages: 1876–1879, Sheila Unger, Anita Mainberger, Christian Spitz, Anna Bähr, Christine Zeschnigk, Bernhard Zabel, Andrea Superti-Furga and Deborah J. Morris-Rosendahl

    Version of Record online : 13 JUL 2007, DOI: 10.1002/ajmg.a.31751

  19. Fetal phenotypes in otopalatodigital spectrum disorders

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 371–377, S. Naudion, S. Moutton, I. Coupry, G. Sole, J. Deforges, E. Guerineau, C. Hubert, S. Deves, J. Pilliod, C. Rooryck, C. Abel, F. Le Breton, S. Collardeau-Frachon, M.P. Cordier, A.L. Delezoide, A. Goldenberg, P. Loget, J. Melki, S. Odent, S. Patrier, A. Verloes, G. Viot, S. Blesson, B. Bessières, D. Lacombe, B. Arveiler, C. Goizet and P. Fergelot

    Version of Record online : 29 OCT 2015, DOI: 10.1111/cge.12679

  20. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934