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There are 8041 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. 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

    Article first published online : 3 JUN 2014, DOI: 10.1002/humu.22581

  2. You have free access to this content
    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

    Article first published online : 11 JAN 2011, DOI: 10.1002/dvdy.22535

  3. 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

    Article first published online : 11 JUL 2012, DOI: 10.1002/ajmg.a.35473

  4. 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

    Article first published online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35584

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

    Clinical Genetics

    C. Vanlerberghe, L. Faivre, F. Petit, O. Fruchart, A.-S. Jourdain, F. Clavier, S. Gay, S. Manouvrier-Hanu and F. Escande

    Article first published online : 6 JAN 2015, DOI: 10.1111/cge.12534

  6. 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

    Article first published online : 13 MAY 2010, DOI: 10.1111/j.1399-0004.2010.01465.x

  7. 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

    Article first published online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36367

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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

    Article first published online : 20 APR 2011, DOI: 10.1002/dvdy.22634

  9. 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

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12352

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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

    Article first published online : 20 OCT 2011, DOI: 10.1002/humu.21615

  11. 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

    Article first published online : 6 DEC 2006, DOI: 10.1002/ajmg.a.31563

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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

    Article first published online : 4 APR 2011, DOI: 10.1002/dvdy.22623

  13. You have free access to this content
    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

    Article first published online : 27 JUL 2007, DOI: 10.1111/j.1440-169X.2007.00943.x

  14. 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

    Article first published online : 16 MAR 2009, DOI: 10.1002/ajmg.a.32740

  15. 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

    Article first published online : 9 JUN 2009, DOI: 10.1111/j.1399-0004.2009.01192.x

  16. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

    Human Mutation

    Volume 31, Issue 1, January 2010, Pages: 81–89, Dagmar Wieczorek, Barbara Pawlik, Yun Li, Nurten A. Akarsu, Almuth Caliebe, Klaus J.W. May, Bernd Schweiger, Fernando R. Vargas, Sevim Balci, Gabriele Gillessen-Kaesbach and Bernd Wollnik

    Article first published online : 21 OCT 2009, DOI: 10.1002/humu.21142

  17. Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1579–1584, Mohammad M. Al-Qattan, Hanan E. Shamseldin, Mohammed Al Mazyad, Saud Al Deghaither and Fowzan S. Alkuraya

    Article first published online : 17 MAY 2013, DOI: 10.1002/ajmg.a.35956

  18. The molecular basis of human congenital limb malformations

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 1, Issue 6, November/December 2012, Pages: 803–822, Aimée Zuniga, Rolf Zeller and Simone Probst

    Article first published online : 26 APR 2012, DOI: 10.1002/wdev.59

  19. 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

    Article first published online : 20 AUG 2010, DOI: 10.1002/adma.201001413

  20. 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

    Article first published online : 31 DEC 2014, DOI: 10.1002/oby.20969