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There are 6453 results for: content related to: cis -regulatory mutations are a genetic cause of human limb malformations

  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. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

    Human Mutation

    Volume 33, Issue 7, July 2012, Pages: 1063–1066, Tobias Laurell, Julia E. VanderMeer, Aaron M. Wenger, Giedre Grigelioniene, Agneta Nordenskjöld, Marianne Arner, Anna Gerber Ekblom, Gill Bejerano, Nadav Ahituv and Ann Nordgren

    Version of Record online : 11 MAY 2012, DOI: 10.1002/humu.22097

  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. 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

  6. 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

    Version of Record online : 21 OCT 2009, DOI: 10.1002/humu.21142

  7. 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

  8. Polydactyly: phenotypes, genetics and classification

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 203–212, S. Malik

    Version of Record online : 18 OCT 2013, DOI: 10.1111/cge.12276

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

    Version of Record online : 26 APR 2012, DOI: 10.1002/wdev.59

  14. Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly

    Developmental Dynamics

    Volume 246, Issue 5, May 2017, Pages: 392–402, Ying Xiang, Limin Jiang, Bo Wang, Yunlan Xu, Haiqing Cai and Qihua Fu

    Version of Record online : 27 FEB 2017, DOI: 10.1002/dvdy.24488

  15. Molecular Genetics of Human Congenital Limb Malformations

    Standard Article


    Joseph Pickering and Matthew Towers

    Published Online : 15 SEP 2014, DOI: 10.1002/9780470015902.a0025686

  16. You have free access to this content
    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

  17. 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

  18. 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

    Version of Record online : 17 MAY 2013, DOI: 10.1002/ajmg.a.35956

  19. 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

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

  20. You have free access to this content
    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