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There are 3002451 results for: content related to: PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

  1. 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

  2. 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

  3. Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

    Clinical Genetics

    Volume 56, Issue 1, July 1999, Pages: 1–9, Michael R Eccles and Lisa A Schimmenti

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560101.x

  4. Notification and support for people exposed to the risk of Creutzfeldt-Jakob disease (CJD) (or other prion diseases) through medical treatment (iatrogenically)

    Intervention Review

    The Cochrane Library

    Rebecca Ryan, Sophie Hill, Dianne Lowe, Kelly Allen, Michael Taylor and Cathy Mead

    Published Online : 16 MAR 2011, DOI: 10.1002/14651858.CD007578.pub2

  5. 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

  6. You have free access to this content
    Quantifying the Intragenic Distribution of Human Disease Mutations

    Annals of Human Genetics

    Volume 67, Issue 6, November 2003, Pages: 567–579, M. P. Miller, J. D. Parker, S. W. Rissing and S. Kumar

    Article first published online : 3 NOV 2003, DOI: 10.1046/j.1529-8817.2003.00072.x

  7. Wagr Syndrome

    Standard Article

    Management of Genetic Syndromes

    Carol L. Clericuzio

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

  8. Uses of Forward and Reverse Genetics in Mice to Study Gene Function

    Unit

    Current Protocols in Molecular Biology

    29:29A.1.1–29A.1.8

    Carmen A. Argmann, Andree Dierich and Johan Auwerx

    Published Online : 1 FEB 2006, DOI: 10.1002/0471142727.mb29a01s73

  9. Ontologies for the description of mouse phenotypes

    Comparative and Functional Genomics

    Volume 5, Issue 6-7, August - October 2004, Pages: 545–551, G. V. Gkoutos, E. C. J. Green, A.-M. Mallon, A. Blake, S. Greenaway, J. M. Hancock and D. Davidson

    Article first published online : 6 JAN 2005, DOI: 10.1002/cfg.430

  10. Presentation of the French Network of Paediatric Clinical Investigation Centres (CIC.P)

    Fundamental & Clinical Pharmacology

    Volume 21, Issue 2, April 2007, Pages: 105–110, Evelyne Jacqz-Aigrain, Behrouz Kassai and the CIC.P collaborative network

    Article first published online : 27 MAR 2007, DOI: 10.1111/j.1472-8206.2007.00463.x

  11. The SOFG anatomy entry list (SAEL): an annotation tool for functional genomics data

    Comparative and Functional Genomics

    Volume 5, Issue 6-7, August - October 2004, Pages: 521–527, Helen Parkinson, Stuart Aitken, Richard A. Baldock, Jonathan B. L. Bard, Albert Burger, Terry F. Hayamizu, Alan Rector, Martin Ringwald, Jeremy Rogers, Cornelius Rosse, Christian J. Stoeckert Jr and Duncan Davidson

    Article first published online : 6 JAN 2005, DOI: 10.1002/cfg.434

  12. Developmental eye disease — a genome era paradigm

    Clinical Genetics

    Volume 54, Issue 4, October 1998, Pages: 272–282, Veronica van Heyningen

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1998.tb03728.x

  13. 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

  14. You have free access to this content
    The human retinitis pigmentosa GTPase regulator gene variant database

    Human Mutation

    Volume 29, Issue 5, May 2008, Pages: 605–608, Xinhua Shu, Ewan McDowall, Alastair F. Brown and Alan F. Wright

    Article first published online : 24 MAR 2008, DOI: 10.1002/humu.20733

  15. Integrative database management for mouse development: Systems and concepts

    Birth Defects Research Part C: Embryo Today: Reviews

    Volume 81, Issue 1, March 2007, Pages: 1–19, Amar V. Singh, Eric C. Rouchka, Greg A. Rempala, Caleb D. Bastian and Thomas B. Knudsen

    Article first published online : 30 MAY 2007, DOI: 10.1002/bdrc.20089

  16. You have free access to this content
    The HUDSEN Atlas: a three-dimensional (3D) spatial framework for studying gene expression in the developing human brain

    Journal of Anatomy

    Volume 217, Issue 4, October 2010, Pages: 289–299, Janet Kerwin, Yiya Yang, Paloma Merchan, Subrot Sarma, Jessica Thompson, Xunxian Wang, Juan Sandoval, Luis Puelles, Richard Baldock and Susan Lindsay

    Article first published online : 8 SEP 2010, DOI: 10.1111/j.1469-7580.2010.01290.x

  17. You have free access to this content
    Genomic resources for chicken

    Developmental Dynamics

    Volume 232, Issue 4, April 2005, Pages: 877–882, Parker B. Antin and Jay H. Konieczka

    Article first published online : 28 FEB 2005, DOI: 10.1002/dvdy.20339

  18. Polymicrogyria and absence of pineal gland due to PAX6 mutation

    Annals of Neurology

    Volume 53, Issue 5, May 2003, Pages: 658–663, Tejal N. Mitchell, Samantha L. Free, Kathleen A. Williamson, John M. Stevens, Amanda J. Churchill, Isabel M. Hanson, Simon D. Shorvon, Anthony T. Moore, Veronica van Heyningen and Sanjay M. Sisodiya

    Article first published online : 25 APR 2003, DOI: 10.1002/ana.10576

  19. The ucsf/storz multichannel cochlear implant: patient results

    The Laryngoscope

    Volume 96, Issue 6, June 1986, Pages: 597–603, Robert A. Schindler, Dorcas K. Kessler, Stephen J. Rebscher, Jennie L. Yanda and Robert K. Jackler

    Article first published online : 4 JAN 2009, DOI: 10.1288/00005537-198606000-00001

  20. Anatomy and Processing of Peripheral Nerve Tissues

    Fundamental Neuropathology for Pathologists and Toxicologists: Principles and Techniques

    William Valentine, Brad Bolon, Pages: 229–237, 2011

    Published Online : 19 AUG 2011, DOI: 10.1002/9780470939956.ch16