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There are 18585 results for: content related to: A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/ LMBR1 ) causes preaxial polydactyly with triphalangeal thumb

  1. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 318–325, S. Lohan, M. Spielmann, S.C. Doelken, R. Flöttmann, F. Muhammad, S.M. Baig, M. Wajid, W. Hülsemann, R. Habenicht, K.W. Kjaer, S.J. Patil, K.M. Girisha, H.H. Abarca-Barriga, S. Mundlos and E. Klopocki

    Version of Record online : 17 FEB 2014, DOI: 10.1111/cge.12352

  2. Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 479–483, C. Vanlerberghe, L. Faivre, F. Petit, O. Fruchart, A.-S. Jourdain, F. Clavier, S. Gay, S. Manouvrier-Hanu and F. Escande

    Version of Record online : 6 JAN 2015, DOI: 10.1111/cge.12534

  3. Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

    Clinical Genetics

    Volume 79, Issue 4, April 2011, Pages: 371–377, J Albuisson, B Isidor, M Giraud, O Pichon, T Marsaud, A David, C Le Caignec and S Bezieau

    Version of Record online : 13 MAY 2010, DOI: 10.1111/j.1399-0004.2010.01465.x

  4. A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 2031–2035, Julia E. VanderMeer, Muhammad Afzal, Saadia Alyas, Sayedul Haque, Nadav Ahituv and Sajid Malik

    Version of Record online : 11 JUL 2012, DOI: 10.1002/ajmg.a.35473

  5. You have free access to this content
    Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 1, 1 January 2007, Pages: 27–32, Christina A. Gurnett, Anne M. Bowcock, Frederick R. Dietz, Jose A. Morcuende, Jeffrey C. Murray and Matthew B. Dobbs

    Version of Record online : 6 DEC 2006, DOI: 10.1002/ajmg.a.31563

  6. A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2610–2615, Mohammad M. Al-Qattan, Ibrahim Al Abdulkareem, Yazied Al Haidan and Mohammed Al Balwi

    Version of Record online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35584

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    Identification of spontaneous mutations within the long-range limb-specific Sonic hedgehog enhancer (ZRS) that alter Sonic hedgehog expression in the chicken limb mutants oligozeugodactyly and silkie breed

    Developmental Dynamics

    Volume 240, Issue 5, May 2011, Pages: 1212–1222, Sarah A. Maas, Takayuki Suzuki and John F. Fallon

    Version of Record online : 20 APR 2011, DOI: 10.1002/dvdy.22634

  8. A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 945–948, Julia E. VanderMeer, Reymundo Lozano, Miao Sun, Yuan Xue, Donna Daentl, Ethylin Wang Jabs, William R. Wilcox and Nadav Ahituv

    Version of Record online : 3 JUN 2014, DOI: 10.1002/humu.22581

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    cis-regulatory mutations are a genetic cause of human limb malformations

    Developmental Dynamics

    Volume 240, Issue 5, May 2011, Pages: 920–930, Julia E. VanderMeer and Nadav Ahituv

    Version of Record online : 11 JAN 2011, DOI: 10.1002/dvdy.22535

  10. A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 898–906, Katta M. Girisha, Abdul Mueed Bidchol, Preeti S. Kamath, Krupa H. Shah, Geert R. Mortier, Stefan Mundlos and Hitesh Shah

    Version of Record online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36367

  11. Zur Kristallstruktur einiger Verbindungen und Phasen des Systems Zirkon/Schwefel

    Zeitschrift für anorganische und allgemeine Chemie

    Volume 292, Issue 1-3, November 1957, Pages: 82–96, Harry Hahn, Berhnard Harder, Ursula Mutschke and Peter Ness

    Version of Record online : 9 NOV 2004, DOI: 10.1002/zaac.19572920112

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    Highly Efficient Silver Nanoparticles Supported Nanocrystalline Zirconosilicate Catalyst for the Epoxidation and Hydration Reactions

    ChemistrySelect

    Volume 1, Issue 5, April 16, 2016, Pages: 1047–1056, Bhaskar Sarmah, Dr. Rajendra Srivastava and Dr. Biswarup Satpati

    Version of Record online : 29 APR 2016, DOI: 10.1002/slct.201600132

  13. Electrical Transport and High-Performance Photoconductivity in Individual ZrS2 Nanobelts

    Advanced Materials

    Volume 22, Issue 37, October 1, 2010, Pages: 4151–4156, Liang Li, Xiaosheng Fang, Tianyou Zhai, Meiyong Liao, Ujjal K Gautam, Xingcai Wu, Yasuo Koide, Yoshio Bando and Dmitri Golberg

    Version of Record online : 20 AUG 2010, DOI: 10.1002/adma.201001413

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    How to make a zone of polarizing activity: Insights into limb development via the abnormality preaxial polydactyly

    Development, Growth & Differentiation

    Volume 49, Issue 6, August 2007, Pages: 439–448, Robert E. Hill

    Version of Record online : 27 JUL 2007, DOI: 10.1111/j.1440-169X.2007.00943.x

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    Arginase promotes endothelial dysfunction and hypertension in obese rats

    Obesity

    Volume 23, Issue 2, February 2015, Pages: 383–390, Fruzsina K. Johnson, Kelly J. Peyton, Xiao-ming Liu, Mohammed A. Azam, Ahmad R. Shebib, Robert A. Johnson and William Durante

    Version of Record online : 31 DEC 2014, DOI: 10.1002/oby.20969

  16. Homozygous feature of isolated triphalangeal thumb–preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes

    Clinical Genetics

    Volume 76, Issue 1, July 2009, Pages: 85–90, CN Semerci, F Demirkan, M Özdemir, E Biskin, B Akin, H Bagci and NA Akarsu

    Version of Record online : 9 JUN 2009, DOI: 10.1111/j.1399-0004.2009.01192.x

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    Enhancer-adoption as a mechanism of human developmental disease

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1492–1499, Laura A. Lettice, Sarah Daniels, Elizabeth Sweeney, Shanmugasundaram Venkataraman, Paul S. Devenney, Philippe Gautier, Harris Morrison, Judy Fantes, Robert E. Hill and David R. FitzPatrick

    Version of Record online : 20 OCT 2011, DOI: 10.1002/humu.21615

  18. Machinal properties of the upper airway wall in children and their influence on respiratory impedance measurements

    Pediatric Pulmonology

    Volume 13, Issue 1, May 1992, Pages: 28–33, Dr. F. Marchal, P. Hauouzi, R. Peslin, C. Duvivier and C. Gallina

    Version of Record online : 4 NOV 2005, DOI: 10.1002/ppul.1950130108

  19. A ZRS duplication causes syndactyly type IV with tibial hypoplasia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 816–818, Lingqian Wu, Desheng Liang, Norio Niikawa, Fen Ma, Miao Sun, Qian Pan, Zhigao Long, Zhongmin Zhou, Koh-ichiro Yoshiura, Hua Wang, Daisuke Sato, Gen Nishimura, Heping Dai, Xue Zhang and Jiahui Xia

    Version of Record online : 16 MAR 2009, DOI: 10.1002/ajmg.a.32740

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    The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development

    Developmental Dynamics

    Volume 240, Issue 5, May 2011, Pages: 1163–1172, Ian C. Dunn, I. Robert Paton, Allyson K. Clelland, Sujith Sebastian, Edward J. Johnson, Lynn McTeir, Dawn Windsor, Adrian Sherman, Helen Sang, Dave W. Burt, Cheryll Tickle and Megan G. Davey

    Version of Record online : 4 APR 2011, DOI: 10.1002/dvdy.22623