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There are 4366 results for: content related to: Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

  1. 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

  2. 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

  3. 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

  4. 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

  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

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

  6. 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

  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

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

  8. 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

    Article first published online : 11 MAY 2012, DOI: 10.1002/humu.22097

  9. Polydactyly: phenotypes, genetics and classification

    Clinical Genetics

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

    Article first published online : 18 OCT 2013, DOI: 10.1111/cge.12276

  10. 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

  11. 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

  12. Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family

    American Journal of Medical Genetics

    Volume 93, Issue 2, 17 July 2000, Pages: 126–131, Piranit N. Kantaputra and Preecha Chalidapong

    Article first published online : 21 JUN 2000, DOI: 10.1002/1096-8628(20000717)93:2<126::AID-AJMG9>3.0.CO;2-S

  13. 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

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

  14. 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

  15. 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

  16. Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36

    Journal of Orthopaedic Research

    Volume 18, Issue 3, May 2000, Pages: 340–344, Matthew B. Dobbs, Frederick R. Dietz, Christina A. Gurnett, Jose A. Morcuende, Curtis M. Steyers and Jeffrey C. Murray

    Article first published online : 18 FEB 2005, DOI: 10.1002/jor.1100180303

  17. Molecular Genetics of Human Congenital Limb Malformations

    Standard Article

    eLS

    Joseph Pickering and Matthew Towers

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

  18. Triphalangeal thumb and brachy-ectrodactyly syndrome

    Clinical Genetics

    Volume 31, Issue 1, January 1987, Pages: 13–18, M. Cirillo Silengo, M. Biagioli, G. Lopez Bell, G. Bona and P. Franceschini

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1987.tb02761.x

  19. 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

  20. Triphalangeal thumbs with brachyectrodactyly: A sporadic case

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 21, 1 November 2008, Pages: 2835–2836, Alaina M. Brown, Mark Romness, Danielle A. Dong and Thaddeus E. Kelly

    Article first published online : 15 OCT 2008, DOI: 10.1002/ajmg.a.32464