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There are 10198 results for: content related to: Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

  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

    Version of Record 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

    Version of Record online : 6 JAN 2010, DOI: 10.1111/j.1399-0004.2010.01372.x

  3. 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

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

  4. WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 11, 1 June 2006, Pages: 1214–1218, P.A. Lennon, D.A. Scott, D. Lonsdorf, D.S. Wargowski, S. Kirkpatrick, A. Patel and S.W. Cheung

    Version of Record online : 27 APR 2006, DOI: 10.1002/ajmg.a.31229

  5. 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

    Version of Record online : 30 SEP 2015, DOI: 10.1002/ajmg.a.37388

  6. 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 487–500, John C.K. Barber, Jill A. Rosenfeld, Nicola Foulds, Sophie Laird, Mark S. Bateman, N. Simon Thomas, Samantha Baker, Viv K. Maloney, Arayamparambil Anilkumar, Wendy E. Smith, Valerie Banks, Sara Ellingwood, Yara Kharbutli, Lakshmi Mehta, Keith A. Eddleman, Michael Marble, Regina Zambrano, John A. Crolla and Allen N. Lamb

    Version of Record online : 23 JAN 2013, DOI: 10.1002/ajmg.a.35767

  7. Wagr Syndrome

    Standard Article

    Management of Genetic Syndromes

    Carol L. Clericuzio

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

  8. 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

    Version of Record online : 9 OCT 2015, DOI: 10.1002/humu.22907

  9. Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 4, 1 May 2005, Pages: 422–425, Dominique Brémond-Gignac, Marion Gérard-Blanluet, Henri Copin, Pierre Bitoun, Clarisse Baumann, J.A. Crolla, Brigitte Benzacken and Alain Verloes

    Version of Record online : 18 MAR 2005, DOI: 10.1002/ajmg.a.30646

  10. Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 958–964, Maike Busch, Barbara Leube, Anne Thiel, Ina Schanze, Manfred Beier and Dr. Brigitte Royer-Pokora

    Version of Record online : 13 MAR 2013, DOI: 10.1002/ajmg.a.35818

  11. Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy

    American Journal of Medical Genetics

    Volume 13, Issue 1, September 1982, Pages: 39–49, Dr. S. Gilgenkrantz, C. Vigneron, M. J. Gregoire, C. Pernot, A. Raspiller and John M. Opitz

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320130108

  12. A Pathological Study of Nephroblastoma with Congenital Aniridia

    Pathology International

    Volume 40, Issue 6, June 1990, Pages: 417–424, Yasutsugu Kobayashi and Noboru Nagahara

    Version of Record online : 11 DEC 2008, DOI: 10.1111/j.1440-1827.1990.tb01581.x

  13. You have free access to this content
    Diadenosine polyphosphates in the tears of aniridia patients

    Acta Ophthalmologica

    Volume 93, Issue 5, August 2015, Pages: e337–e342, Assumpta Peral, Gonzalo Carracedo and Jesús Pintor

    Version of Record online : 28 DEC 2014, DOI: 10.1111/aos.12626

  14. Missense mutations in the DNA-binding region and termination codon in PAX6

    Human Mutation

    Volume 21, Issue 2, February 2003, Pages: 138–145, Lian-Yu Chao, Rajnikant Mishra, Louise C. Strong and Grady F. Saunders

    Version of Record online : 16 JAN 2003, DOI: 10.1002/humu.10163

  15. 8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 561–565, Yanliang Zhang, Ya Li, Yuming Wang, Bin Shan and Yong Duan

    Version of Record online : 12 FEB 2013, DOI: 10.1002/ajmg.a.35596

  16. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3148–3158, Mauro Longoni, Kasper Lage, Meaghan K. Russell, Maria Loscertales, Omar A. Abdul-Rahman, Gareth Baynam, Steven B. Bleyl, Paul D. Brady, Jeroen Breckpot, Chih P. Chen, Koenraad Devriendt, Gabriele Gillessen-Kaesbach, Arthur W. Grix, Alan F. Rope, Osamu Shimokawa, Bernarda Strauss, Dagmar Wieczorek, Elaine H. Zackai, Caroline M. Coletti, Faouzi I. Maalouf, Kristin M. Noonan, Ji H. Park, Adam A. Tracy, Charles Lee, Patricia K. Donahoe and Barbara R. Pober

    Version of Record online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35665

  17. PAX6 mutations reviewed

    Human Mutation

    Volume 11, Issue 2, 1998, Pages: 93–108, Jane Prosser and Veronica van Heyningen

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M

  18. Molecular Genetics of Aniridia

    Standard Article

    eLS

    Melanie Hingorani

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

  19. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

    American Journal of Medical Genetics Part A

    Volume 167, Issue 9, September 2015, Pages: 2052–2064, John C. K. Barber, Jill A. Rosenfeld, John M. Graham, Nancy Kramer, Katherine L. Lachlan, Mark S. Bateman, Morag N. Collinson, Barbro Fossøy Stadheim, Claire L. S. Turner, Jacqueline N. Gauthier, Tyler E. Reimschisel, Athar M. Qureshi, Tabib A. Dabir, Mervyn W. Humphreys, Michael Marble, Taosheng Huang, Sarah J. Beal, Joanne Massiah, Emma-Jane Taylor and Sarah L. Wynn

    Version of Record online : 11 JUN 2015, DOI: 10.1002/ajmg.a.37120

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    The Human Obesity Gene Map: The 2003 Update

    Obesity Research

    Volume 12, Issue 3, March 2004, Pages: 369–439, Eric E. Snyder, Brandon Walts, Louis Pérusse, Yvon C. Chagnon, S. John Weisnagel, Tuomo Rankinen and Claude Bouchard

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2004.47