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Journal Abstract Search

275 related items for PubMed ID: 21057178

  • 1. Epidemiology of SHOX deficiency.
    Nicolosi A, Caruso-Nicoletti M.
    J Endocrinol Invest; 2010 Jun; 33(6 Suppl):7-10. PubMed ID: 21057178
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  • 2. Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.
    Iughetti L, Madeo S, Predieri B.
    J Endocrinol Invest; 2010 Jun; 33(6 Suppl):34-8. PubMed ID: 21057184
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  • 3. Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.
    Benito-Sanz S, Royo JL, Barroso E, Paumard-Hernández B, Barreda-Bonis AC, Liu P, Gracía R, Lupski JR, Campos-Barros Á, Gómez-Skarmeta JL, Heath KE.
    J Med Genet; 2012 Jul; 49(7):442-50. PubMed ID: 22791839
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  • 4. Complete SHOX deficiency causes Langer mesomelic dysplasia.
    Zinn AR, Wei F, Zhang L, Elder FF, Scott CI, Marttila P, Ross JL.
    Am J Med Genet; 2002 Jun 15; 110(2):158-63. PubMed ID: 12116254
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  • 5. The SHOX region and its mutations.
    Capone L, Iughetti L, Sabatini S, Bacciaglia A, Forabosco A.
    J Endocrinol Invest; 2010 Jun 15; 33(6 Suppl):11-4. PubMed ID: 21057179
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  • 14. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
    Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE.
    Am J Hum Genet; 2005 Oct 15; 77(4):533-44. PubMed ID: 16175500
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  • 17. Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.
    Sabherwal N, Schneider KU, Blaschke RJ, Marchini A, Rappold G.
    J Cell Sci; 2004 Jun 15; 117(Pt 14):3041-8. PubMed ID: 15173321
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  • 18. Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.
    Schneider KU, Marchini A, Sabherwal N, Röth R, Niesler B, Marttila T, Blaschke RJ, Lawson M, Dumic M, Rappold G.
    Hum Mutat; 2005 Jul 15; 26(1):44-52. PubMed ID: 15931687
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  • 19. Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
    Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE.
    J Clin Endocrinol Metab; 2011 Feb 15; 96(2):E404-12. PubMed ID: 21147883
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