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Journal Abstract Search

280 related items for PubMed ID: 12673642

  • 41. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.
    Hirschfeldova K, Solc R, Baxova A, Zapletalova J, Kebrdlova V, Gaillyova R, Prasilova S, Soukalova J, Mihalova R, Lnenicka P, Florianova M, Stekrova J.
    Gene; 2012 Jan 10; 491(2):123-7. PubMed ID: 22020182
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  • 42. Partial duplication of Xp: a case report and review of previously reported cases.
    Wyandt HE, Bugeau-Michaud L, Skare JC, Milunsky A.
    Am J Med Genet; 1991 Sep 01; 40(3):280-3. PubMed ID: 1951429
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  • 43. 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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  • 44. Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure.
    Tachdjian G, Aboura A, Portnoï MF, Pasquier M, Bourcigaux N, Simon T, Rousseau G, Finkel L, Benkhalifa M, Christin-Maitre S.
    Hum Reprod; 2008 Jan 15; 23(1):222-6. PubMed ID: 17981816
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  • 46. Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia.
    Zhang L, Parkhurst JB, Kern WF, Scott KV, Niccum D, Mulvihill JJ, Li S.
    Chin Med J (Engl); 2003 Sep 15; 116(9):1298-303. PubMed ID: 14527352
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  • 47. [Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].
    Jorge AA, Nishi MY, Funari MF, Souza SC, Arnhold IJ, Mendonça BB.
    Arq Bras Endocrinol Metabol; 2008 Jul 15; 52(5):765-73. PubMed ID: 18797583
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  • 50. SHOX intragenic microsatellite analysis in patients with short stature.
    Ezquieta B, Cueva E, Oliver A, Gracia R.
    J Pediatr Endocrinol Metab; 2002 Feb 15; 15(2):139-48. PubMed ID: 11874178
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  • 55. Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes.
    Kanaka-Gantenbein C, Kitsiou S, Mavrou A, Stamoyannou L, Kolialexi A, Kekou K, Liakopoulou M, Chrousos G.
    Horm Res; 2004 Feb 15; 61(5):205-10. PubMed ID: 14752208
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  • 58. [A case of mixed gonadal dysgenesis with structural abnormalities of X chromosome (Xp+)].
    Watanabe H, Watase H, Fushimi N, Otaguro K.
    Hinyokika Kiyo; 1985 Jul 15; 31(7):1211-9. PubMed ID: 4061220
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  • 59. 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.
    Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T.
    Am J Med Genet A; 2005 Aug 15; 137(1):72-6. PubMed ID: 16007631
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