Search Results

There are 8687 results for: content related to: Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

  1. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 457–466, Matthew Bower, Rémi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe B. Jensen, Pierre Cochat, Stephane DeCramer, Joanne Dixon, Regen Drouin, Marni J. Falk, Holly Feret, Robert Gise, Alasdair Hunter, Kisha Johnson, Rajiv Kumar, Marie Pierre Lavocat, Laura Martin, Vincent Morinière, David Mowat, Luisa Murer, Hiep T. Nguyen, Gabriela Peretz-Amit, Eric Pierce, Emily Place, Nancy Rodig, Ann Salerno, Sujatha Sastry, Tadashi Sato, John A. Sayer, Gerard C.P. Schaafsma, Lawrence Shoemaker, David W. Stockton, Wen-Hann Tan, Romano Tenconi, Philippe Vanhille, Abhay Vats, Xinjing Wang, Berta Warman, Richard G. Weleber, Susan M. White, Carolyn Wilson-Brackett, Dina J. Zand, Michael Eccles, Lisa A. Schimmenti and Laurence Heidet

    Version of Record online : 31 JAN 2012, DOI: 10.1002/humu.22020

  2. PAX2 mutations in fetal renal hypodysplasia

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 830–835, Jelena Martinovic-Bouriel, Alexandra Benachi, Maryse Bonnière, Nora Brahimi, Chantal Esculpavit, Nicole Morichon, Michel Vekemans, Corinne Antignac, Rémi Salomon, Féréchté Encha-Razavi, Tania Attié-Bitach and Marie-Claire Gubler

    Version of Record online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33133

  3. Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome

    Human Mutation

    Volume 14, Issue 5, November 1999, Pages: 369–376, Lisa A. Schimmenti, Heather H. Shim, Jonathan D. Wirtschafter, Valerie A. Panzarino, Clifford E. Kashtan, Susan J. Kirkpatrick, David S. Wargowski, Thomas D. France, Eduard Michel and William B. Dobyns

    Version of Record online : 22 OCT 1999, DOI: 10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E

  4. PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 581–585, S Negrisolo, E Benetti, S Centi, M Della Vella, G Ghirardo, GF Zanon, L Murer and L Artifoni

    Version of Record online : 25 NOV 2010, DOI: 10.1111/j.1399-0004.2010.01588.x

  5. Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome

    American Journal of Medical Genetics

    Volume 93, Issue 2, 17 July 2000, Pages: 85–88, Anne-Lorraine Tellier, Jeanne Amiel, Anne-Lise Delezoide, Sophie Audollent, Joelle Augé, Dominique Esnault, Férechté Encha-Razavi, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans and Tania Attié-Bitach

    Version of Record online : 21 JUN 2000, DOI: 10.1002/1096-8628(20000717)93:2<85::AID-AJMG1>3.0.CO;2-B

  6. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 3, 30 January 2003, Pages: 215–221, Lisa A. Schimmenti, June de la Cruz, Richard Alan Lewis, J.D. Karkera, Glenda S. Manligas, Erich Roessler and Maximilian Muenke

    Version of Record online : 24 SEP 2002, DOI: 10.1002/ajmg.a.10884

  7. Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1437–1441, Kucinskas Laimutis, Craig Jackson, Xinjie Xu, Berta Warman, Rudaitis Sarunas, Irena Andriuskeviciute, Pundziene Birute, Lisa A. Schimmenti and Gordana Raca

    Version of Record online : 11 MAY 2012, DOI: 10.1002/ajmg.a.35342

  8. You have free access to this content
    The PAX258 gene subfamily: A comparative perspective

    Developmental Dynamics

    Volume 238, Issue 12, December 2009, Pages: 2951–2974, Debbie K. Goode and Greg Elgar

    Version of Record online : 18 NOV 2009, DOI: 10.1002/dvdy.22146

  9. You have free access to this content
    Pax2 modulates proliferation during specification of the otic and epibranchial placodes

    Developmental Dynamics

    Volume 241, Issue 11, November 2012, Pages: 1716–1728, Sabine Freter, Yuko Muta, Paul O'Neill, Vassil S. Vassilev, Shigehiro Kuraku and Raj K. Ladher

    Version of Record online : 25 SEP 2012, DOI: 10.1002/dvdy.23856

  10. Comparative study of Pax2 expression in glial cells in the retina and optic nerve of birds and mammals

    Journal of Comparative Neurology

    Volume 518, Issue 12, 15 June 2010, Pages: 2316–2333, Jennifer Stanke, Holly E. Moose, Heithem M. El-Hodiri and Andy J. Fischer

    Version of Record online : 20 JAN 2010, DOI: 10.1002/cne.22335

  11. Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family

    American Journal of Medical Genetics

    Volume 99, Issue 2, 1 March 2001, Pages: 137–141, Bryce Ford, Rosemarie Rupps, David Lirenman, Margot I. Van Allen, Duncan Farquharson, Christopher Lyons and J.M. Friedman

    Version of Record online : 5 FEB 2001, DOI: 10.1002/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F

  12. Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT)

    Pediatrics International

    Volume 45, Issue 5, October 2003, Pages: 610–616, Koichi Nakanishi and Norishige Yoshikawa

    Version of Record online : 23 OCT 2003, DOI: 10.1046/j.1442-200X.2003.01779.x

  13. You have full text access to this Open Access content
    Pax genes in embryogenesis and oncogenesis

    Journal of Cellular and Molecular Medicine

    Volume 12, Issue 6a, December 2008, Pages: 2281–2294, Qiuyu Wang, Wen-Hui Fang, Jerzy Krupinski, Shant Kumar, Mark Slevin and Patricia Kumar

    Version of Record online : 8 JUL 2008, DOI: 10.1111/j.1582-4934.2008.00427.x

  14. You have free access to this content
    Groucho suppresses Pax2 transactivation by inhibition of JNK-mediated phosphorylation

    The EMBO Journal

    Volume 22, Issue 20, October 15, 2003, Pages: 5522–5529, Yi Cai, Patrick D. Brophy, Inna Levitan, Stefano Stifani and Gregory R. Dressler

    Version of Record online : 15 OCT 2003, DOI: 10.1093/emboj/cdg536

  15. In vivo characterization of astrocyte precursor cells (APCs) and astrocytes in developing rat retinae: Differentiation, proliferation, and apoptosis


    Volume 57, Issue 1, 1 January 2009, Pages: 39–53, Tailoi Chan-Ling, Yi Chu, Louise Baxter, Michael Weible II and Suzanne Hughes

    Version of Record online : 25 JUL 2008, DOI: 10.1002/glia.20733

  16. The developmental expression profile of PAX2 in the murine prostate

    The Prostate

    Volume 70, Issue 6, 1 May 2010, Pages: 654–665, Qian Chen, David J. DeGraff and Robert A. Sikes

    Version of Record online : 16 DEC 2009, DOI: 10.1002/pros.21099

  17. The Function and Developmental Expression of Alternatively Spliced Isoforms of Amphioxus and Xenopus laevis Pax2/5/8 Genes: Revealing Divergence at the Invertebrate to Vertebrate Transition

    Journal of Experimental Zoology Part B: Molecular and Developmental Evolution

    Volume 318, Issue 7, November 2012, Pages: 555–571, Stephen Short, Zbynek Kozmik and Linda Z. Holland

    Version of Record online : 12 JUL 2012, DOI: 10.1002/jez.b.22460

  18. You have free access to this content
    Discrete regulatory regions control early and late expression of D-Pax2 during external sensory organ development

    Developmental Dynamics

    Volume 240, Issue 7, July 2011, Pages: 1769–1778, Seth A. Johnson, Katharine J. Harmon, Sarah G. Smiley, Frances M. Still and Joshua Kavaler

    Version of Record online : 3 JUN 2011, DOI: 10.1002/dvdy.22672

  19. Hyper-expression of PAX2 in human metastatic prostate tumors and its role as a cancer promoter in an in vitro invasion model

    The Prostate

    Volume 73, Issue 13, September 2013, Pages: 1403–1412, Takashi Ueda, Saya Ito, Takumi Shiraishi, Prakash Kulkarni, Akihisa Ueno, Hideo Nakagawa, Yasunori Kimura, Fumiya Hongo, Kazumi Kamoi, Akihiro Kawauchi and Tsuneharu Miki

    Version of Record online : 14 JUN 2013, DOI: 10.1002/pros.22687

  20. You have free access to this content
    Development of the zebrafish inner ear

    Developmental Dynamics

    Volume 223, Issue 4, April 2002, Pages: 427–458, Tanya T. Whitfield, Bruce B. Riley, Ming-Yung Chiang and Bryan Phillips

    Version of Record online : 25 FEB 2002, DOI: 10.1002/dvdy.10073