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There are 3692 results for: content related to: PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

  1. Clinical and molecular aspects of aniridia

    Clinical Genetics

    Volume 77, Issue 5, May 2010, Pages: 409–420, H Kokotas and MB Petersen

    Article first published online : 6 JAN 2010, DOI: 10.1111/j.1399-0004.2010.01372.x

  2. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 5, 1 March 2008, Pages: 558–569, David O. Robinson, Rachel J. Howarth, Kathleen A. Williamson, Veronica van Heyningen, Sarah J. Beal and John A. Crolla

    Article first published online : 1 FEB 2008, DOI: 10.1002/ajmg.a.32209

  3. Assessment of PAX6 alleles in 66 families with aniridia

    Clinical Genetics

    A.M. Bobilev, M.E. McDougal, W.L. Taylor, E.E. Geisert, P.A. Netland and J.D. Lauderdale

    Article first published online : 25 JAN 2016, DOI: 10.1111/cge.12708

  4. You have free access to this content
    A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163kb and microduplication of 288kb at 11p13 and 11q22.3 without aniridia or eye anomalies

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 202–209, Lara Balay, Ellen Totten, Luna Okada, Sidney Zell, Benjamin Ticho, Jeannette Israel and Jillene Kogan

    Article first published online : 30 SEP 2015, DOI: 10.1002/ajmg.a.37388

  5. You have free access to this content
    Abnormal migration and distribution of neural crest cells in Pax6 heterozygous mutant eye, a model for human eye diseases

    Genes to Cells

    Volume 11, Issue 8, August 2006, Pages: 919–933, Sachiko Kanakubo, Tadashi Nomura, Ken-ichi Yamamura, Jun-ichi Miyazaki, Makoto Tamai and Noriko Osumi

    Article first published online : 10 JUL 2006, DOI: 10.1111/j.1365-2443.2006.00992.x

  6. Molecular Genetics of Aniridia

    Standard Article

    eLS

    Melanie Hingorani

    Published Online : 20 SEP 2013, DOI: 10.1002/9780470015902.a0024300

  7. Wagr Syndrome

    Standard Article

    Management of Genetic Syndromes

    Carol L. Clericuzio

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs053

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    The role of Pax6 in forebrain development

    Developmental Neurobiology

    Volume 71, Issue 8, August 2011, Pages: 690–709, Petrina A. Georgala, Catherine B. Carr and David J. Price

    Article first published online : 9 JUL 2011, DOI: 10.1002/dneu.20895

  9. You have full text access to this OnlineOpen article
    PAX6, brain structure and function in human adults: advanced MRI in aniridia

    Annals of Clinical and Translational Neurology

    Mahinda Yogarajah, Mar Matarin, Christian Vollmar, Pamela J. Thompson, John S. Duncan, Mark Symms, Anthony T. Moore, Joan Liu, Maria Thom, Veronica van Heyningen and Sanjay M. Sisodiya

    Article first published online : 12 APR 2016, DOI: 10.1002/acn3.297

  10. Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 68–73, Z.S. Fernandes-Lima, V.R. Paixão-Côrtes, A.K.M. de Andrade, A.S. Fernandes, B.N.L. Coronado, H.P. Monte Filho, M.J. Santos, R.L. de Omena Filho, F.C. Biondi, A. Ruiz-Linares, V. Ramallo, T. Hünemeier, L. Schuler-Faccini and I.L. Monlleó

    Article first published online : 16 JAN 2014, DOI: 10.1111/cge.12329

  11. A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 15, 1 August 2007, Pages: 1802–1805, Claudio Graziano, Angela V. D'Elia, Laura Mazzanti, Filomena Moscano, Simonetta Guidelli Guidi, Emanuela Scarano, Daniela Turchetti, Emilio Franzoni, Giovanni Romeo, Giuseppe Damante and Marco Seri

    Article first published online : 26 JUN 2007, DOI: 10.1002/ajmg.a.31808

  12. You have full text access to this OnlineOpen article
    Giant Subependymoma Developed in a Patient with Aniridia: Analyses of PAX6 and Tumor-relevant Genes

    Brain Pathology

    Volume 20, Issue 6, November 2010, Pages: 1033–1041, Motoko Maekawa, Hironori Fujisawa, Yoshimi Iwayama, Akira Tamase, Tomoko Toyota, Noriko Osumi and Takeo Yoshikawa

    Article first published online : 5 MAY 2010, DOI: 10.1111/j.1750-3639.2010.00406.x

  13. PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?

    Clinical & Experimental Ophthalmology

    Volume 41, Issue 9, December 2013, Pages: 835–841, Neena M Peter, Martin Leyland, Hardeep S Mudhar, Jo Lowndes, Katharine R Owen and Helen Stewart

    Article first published online : 3 MAY 2013, DOI: 10.1111/ceo.12109

  14. Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1164–1167, Xibo Zhang, Gang Qin, Guilan Chen, Tao Li, Linghan Gao, Li Huang, Ying Zhang, Ke Ouyang, Yuqi Wang, Yu Pang, Bo Zeng and Ling Yu

    Article first published online : 9 OCT 2015, DOI: 10.1002/humu.22907

  15. Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2543–2546, Benjamin D. Solomon, Daniel E. Pineda-Alvarez, Joan Z. Balog, Donald Hadley, Andrea L. Gropman, Radha Nandagopal, Joan C. Han, Jin S. Hahn, Delphine Blain, Brian Brooks and Maximilian Muenke

    Article first published online : 28 OCT 2009, DOI: 10.1002/ajmg.a.33081

  16. Mutation in the PAX6 gene in twenty patients with aniridia

    Human Mutation

    Volume 15, Issue 4, April 2000, Pages: 332–339, Lian-Yu Chao, Vicki Huff, Louise C. Strong and Grady F. Saunders

    Article first published online : 22 MAR 2000, DOI: 10.1002/(SICI)1098-1004(200004)15:4<332::AID-HUMU5>3.0.CO;2-1

  17. Transcriptional and epigenetic mechanisms of early cortical development: An examination of how Pax6 coordinates cortical development

    Journal of Comparative Neurology

    Volume 524, Issue 3, 15 February 2016, Pages: 609–629, Athéna R. Ypsilanti and John L.R. Rubenstein

    Article first published online : 25 AUG 2015, DOI: 10.1002/cne.23866

  18. The role of electrical signals in murine corneal wound re-epithelialization

    Journal of Cellular Physiology

    Volume 226, Issue 6, June 2011, Pages: 1544–1553, Romana Kucerova, Petr Walczysko, Brian Reid, Jingxing Ou, Lucy J. Leiper, Ann M. Rajnicek, Colin D. McCaig, Min Zhao and J Martin Collinson

    Article first published online : 17 MAR 2011, DOI: 10.1002/jcp.22488

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    Six3 activation of Pax6 expression is essential for mammalian lens induction and specification

    The EMBO Journal

    Volume 25, Issue 22, November 15, 2006, Pages: 5383–5395, Wei Liu, Oleg V Lagutin, Michael Mende, Andrea Streit and Guillermo Oliver

    Article first published online : 26 OCT 2006, DOI: 10.1038/sj.emboj.7601398

  20. Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2

    Clinical Genetics

    Volume 69, Issue 6, June 2006, Pages: 459–470, AM Hever, KA Williamson and V Van Heyningen

    Article first published online : 2 MAY 2006, DOI: 10.1111/j.1399-0004.2006.00619.x