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There are 7936065 results for: content related to: The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia

  1. First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previouslyaffected family

    Prenatal Diagnosis

    Volume 31, Issue 8, August 2011, Pages: 830–831, Vincenzo Mazza, Silvia Latella, Mariangela Pati, Claudia Re, Emma Bertucci, Carlotta Cani and Antonio Percesepe

    Version of Record online : 21 JUN 2011, DOI: 10.1002/pd.2763

  2. SHOX mutations in a family and a fetus with Langer mesomelic dwarfism

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 2, 15 July 2004, Pages: 179–184, N. Simon Thomas, Viv Maloney, Paul Bass, Varsha Mulik, Diana Wellesley and Bruce Castle

    Version of Record online : 21 APR 2004, DOI: 10.1002/ajmg.a.30095

  3. Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation

    American Journal of Medical Genetics

    Volume 110, Issue 2, 15 June 2002, Pages: 153–157, Deborah J. Shears, Encarna Guillen-Navarro, Manuel Sempere-Miralles, Rosario Domingo-Jimenez, Peter J. Scambler and Robin M. Winter

    Version of Record online : 23 MAY 2002, DOI: 10.1002/ajmg.10421

  4. Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 9, 1 May 2007, Pages: 933–938, Ángel Campos-Barros, Sara Benito-Sanz, Judith L. Ross, Andrew R. Zinn and Karen E. Heath

    Version of Record online : 29 MAR 2007, DOI: 10.1002/ajmg.a.31676

  5. Microdeletion in the SHOX 3′ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri–Weill dyschondrosteosis in her 46,XX mother: Implication for the SHOX enhancer

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 1, 15 August 2005, Pages: 72–76, Maki Fukami, Torayuki Okuyama, Shunji Yamamori, Gen Nishimura and Tsutomu Ogata

    Version of Record online : 8 JUL 2005, DOI: 10.1002/ajmg.a.30852

  6. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 23, 1 December 2007, Pages: 2785–2795, Steven B. Bleyl, Janice L.B. Byrne, Sarah T. South, David C. Dries, David A. Stevenson, Alan F. Rope, Angela M. Vianna-Morgante, Gary C. Schoenwolf, Jane D. Kivlin, Arthur Brothman and John C. Carey

    Version of Record online : 9 NOV 2007, DOI: 10.1002/ajmg.a.32036

  7. Complete SHOX deficiency causes Langer mesomelic dysplasia

    American Journal of Medical Genetics

    Volume 110, Issue 2, 15 June 2002, Pages: 158–163, Andrew R. Zinn, Fanglin Wei, Ling Zhang, Frederick F. Elder, Charles I. Scott Jr, Pia Marttila and Judith L. Ross

    Version of Record online : 29 APR 2002, DOI: 10.1002/ajmg.10422

  8. Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?

    Clinical Genetics

    Volume 79, Issue 5, May 2011, Pages: 489–494, C Evers, PH Heidemann, D Dunstheimer, E Schulze, C Haag, JWG Janssen, C Fischer, A Jauch and U Moog

    Version of Record online : 23 JUN 2010, DOI: 10.1111/j.1399-0004.2010.01488.x

  9. Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 1, 1 January 2003, Pages: 61–65, Judith L. Ross, Gary Bellus, Charles I. Scott Jr., Jack Abboudi, Giedre Grigelioniene and Andrew R. Zinn

    Version of Record online : 5 SEP 2002, DOI: 10.1002/ajmg.a.10807

  10. Mosaic compound heterozygosity of SHOX resulting in Leri–Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 9, September 2010, Pages: 2230–2235, Orit Reish, Céline Huber, Gheona Altarescu, Daphne Chapman-Shimshoni, Ephrat Levy-Lahad, Paul Renbaum, Maya Mashevich, Arnold Munnich and Valérie Cormier-Daire

    Version of Record online : 3 AUG 2010, DOI: 10.1002/ajmg.a.33563

  11. Dependence on the transcription factor Shox2 for specification of sensory neurons conveying discriminative touch

    European Journal of Neuroscience

    Volume 34, Issue 10, November 2011, Pages: 1529–1541, Hind Abdo, Lili Li, Francois Lallemend, Isabelle Bachy, Xiao-Jun Xu, Frank L. Rice and Patrik Ernfors

    Version of Record online : 21 NOV 2011, DOI: 10.1111/j.1460-9568.2011.07883.x

  12. Enzymatic Hydrolysis of Penicillin in Mixed Ionic Liquids/Water Two-Phase System

    Biotechnology Progress

    Volume 23, Issue 4, 2007, Pages: 829–835, Yangyang Jiang, Hansong Xia, Chen Guo, Iram Mahmood and Huizhou Liu

    Version of Record online : 5 SEP 2008, DOI: 10.1021/bp070074f

  13. Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 505–510, Takayoshi Tsuchiya, Minoru Shibata, Hironao Numabe, Tomoko Jinno, Kazuhiko Nakabayashi, Gen Nishimura, Toshiro Nagai, Tsutomu Ogata and Maki Fukami

    Version of Record online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36284

  14. Mesomelic dysplasia, Kantaputra type: Clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 4, 1 August 2004, Pages: 404–409, M.L. Kwee, J.A. van de Sluijs, J.M.G. van Vugt, L.C.D. Wijnaendts and J.J.P. Gille

    Version of Record online : 18 MAY 2004, DOI: 10.1002/ajmg.a.30120

  15. You have full text access to this OnlineOpen article
    Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency

    EMBO Molecular Medicine

    Volume 8, Issue 12, December 2016, Pages: 1455–1469, Antonino Montalbano, Lonny Juergensen, Ralph Roeth, Birgit Weiss, Maki Fukami, Susanne Fricke-Otto, Gerhard Binder, Tsutomu Ogata, Eva Decker, Gudrun Nuernberg, David Hassel and Gudrun A Rappold

    Version of Record online : 14 NOV 2016, DOI: 10.15252/emmm.201606623

  16. Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 7, July 2009, Pages: 1407–1414, N. Simon Thomas, John F. Harvey, David J. Bunyan, Julia Rankin, Giedre Grigelioniene, Damien L. Bruno, Tiong Y. Tan, Susan Tomkins and Robert Hastings

    Version of Record online : 16 JUN 2009, DOI: 10.1002/ajmg.a.32914

  17. Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome

    Clinical Endocrinology

    Volume 56, Issue 5, May 2002, Pages: 671–675, K. A. Adamson, I. Cross, J. A. Batch, G. A. Rappold, I. A. Glass and S. G. Ball

    Version of Record online : 26 MAY 2002, DOI: 10.1046/j.1365-2265.2002.01504.x

  18. You have free access to this content
    Gait perception of part-reverse biological motion pattern produced by eight point-lights attached to the back of a walker

    Japanese Psychological Research

    Volume 47, Issue 3, September 2005, Pages: 156–162, SHIGEMASA SUMI

    Version of Record online : 29 SEP 2005, DOI: 10.1111/j.1468-5884.2005.00284.x

  19. Colour vision and speciation in Lake Victoria cichlids of the genus Pundamilia

    Molecular Ecology

    Volume 14, Issue 14, December 2005, Pages: 4341–4353, KAREN L. CARLETON, JULIET W. L. PARRY, JAMES K. BOWMAKER, DAVID M. HUNT and OLE SEEHAUSEN

    Version of Record online : 12 OCT 2005, DOI: 10.1111/j.1365-294X.2005.02735.x

  20. You have free access to this content
    The novel human SHOX allelic variant database

    Human Mutation

    Volume 28, Issue 10, October 2007, Pages: 933–938, Beate Niesler, Ralph Röth, Steffi Wilke, Frank Fujimura, Christine Fischer and Gudrun Rappold

    Version of Record online : 28 AUG 2007, DOI: 10.1002/humu.20542