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There are 21488 results for: content related to: Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

  1. 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

  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. 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

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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

  5. 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

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

  6. Hedgehog signaling and congenital malformations

    Clinical Genetics

    Volume 67, Issue 3, March 2005, Pages: 193–208, E Nieuwenhuis and C-c Hui

    Article first published online : 20 OCT 2004, DOI: 10.1111/j.1399-0004.2004.00360.x

  7. The developing limb and the control of the number of digits

    Clinical Genetics

    Volume 67, Issue 2, February 2005, Pages: 143–153, A Talamillo, Mf Bastida, M Fernandez-Teran and Ma Ros

    Article first published online : 28 JAN 2005, DOI: 10.1111/j.1399-0004.2005.00404.x

  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. 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

  10. Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

    Clinical Genetics

    Volume 57, Issue 5, May 2000, Pages: 388–393, Małgorzata Jm Nowaczyk, Marlene J Huggins, Darrell J Tomkins, Elena Rossi, Jennifer A Ramsay, John Woulfe, Stephen W Scherer and Elena Belloni

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.570510.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

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

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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

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

  13. Molecular mechanisms controlling lung morphogenesis

    Clinical Genetics

    Volume 56, Issue 1, July 1999, Pages: 14–27, Anne-Karina T Perl and Jeffrey A Whitsett

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560103.x

  14. Intrafamilial variability of ZRS-Associated syndrome: Characterisation of a mosaic ZRS mutation by pyrosequencing

    Clinical Genetics

    Accepted manuscript online: 10 NOV 2014, Clémence Vanlerberghe, Laurence Faivre, Florence Petit, Olivier Fruchart, Anne-Sophie Jourdain, Frédéric Clavier, Sébastien Gay, Sylvie Manouvrier-Hanu and Fabienne Escande

    DOI: 10.1111/cge.12534

  15. The Sonic hedgehog gradient in the developing limb

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 2, Issue 2, March/April 2013, Pages: 275–290, Cheryll Tickle and Heather Barker

    Article first published online : 25 MAY 2012, DOI: 10.1002/wdev.70

  16. The VACTERL association: lessons from the Sonic hedgehog pathway

    Clinical Genetics

    Volume 59, Issue 5, May 2001, Pages: 306–315, JH Kim, PCW Kim and C-C Hui

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.590503.x

  17. The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces

    Clinical Genetics

    Volume 73, Issue 5, May 2008, Pages: 413–423, M Fernandes and JM Hébert

    Article first published online : 3 APR 2008, DOI: 10.1111/j.1399-0004.2008.00994.x

  18. 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

  19. Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature

    Clinical Genetics

    Volume 68, Issue 4, October 2005, Pages: 349–359, BA Fernandez, J Siegel-Bartelt, J-AS Herbrick, I Teshima and SW Scherer

    Article first published online : 2 SEP 2005, DOI: 10.1111/j.1399-0004.2005.00498.x

  20. 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