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Journal Abstract Search

280 related items for PubMed ID: 12673642

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  • 5. FISH analysis for apparently simple terminal deletions of the X chromosome: identification of hidden structural abnormalities.
    Ogata T, Matsuo N, Fukushima Y, Saito M, Nose O, Miharu N, Uehara S, Ishizuka B.
    Am J Med Genet; 2001 Dec 15; 104(4):307-11. PubMed ID: 11754066
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  • 6. SHOX haploinsufficiency and its modifying factors.
    Ogata T.
    J Pediatr Endocrinol Metab; 2002 Dec 15; 15 Suppl 5():1289-94. PubMed ID: 12510982
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  • 7. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
    Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Libório DC, Kim CA, Arnhold IJ, Mendonca BB.
    Clin Endocrinol (Oxf); 2007 Jan 15; 66(1):130-5. PubMed ID: 17201812
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  • 10. Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
    Evers C, Heidemann PH, Dunstheimer D, Schulze E, Haag C, Janssen JW, Fischer C, Jauch A, Moog U.
    Clin Genet; 2011 May 15; 79(5):489-94. PubMed ID: 20681991
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  • 11. An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female.
    Shago M, Sgro M, Barozzino T, Antinucci D, Chakraborty P, Chitayat D, Teshima I.
    Am J Med Genet; 2002 Dec 01; 113(3):279-85. PubMed ID: 12439897
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  • 12. A short history of the initial discovery of the SHOX gene.
    Bernasconi S, Garavelli L.
    J Endocrinol Invest; 2010 Jun 01; 33(6 Suppl):3-6. PubMed ID: 21057177
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  • 15. Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.
    Jorge AA, Funari MF, Nishi MY, Mendonca BB.
    Pediatr Endocrinol Rev; 2010 Dec 01; 8(2):79-85. PubMed ID: 21150837
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  • 16. Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.
    Ogata T, Kosho T, Wakui K, Fukushima Y, Yoshimoto M, Miharu N.
    J Clin Endocrinol Metab; 2000 Aug 01; 85(8):2927-30. PubMed ID: 10946905
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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 01; 26(1):44-52. PubMed ID: 15931687
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  • 19. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
    Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V.
    Nat Genet; 1998 May 01; 19(1):67-9. PubMed ID: 9590292
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  • 20. Short stature in a mother and daughter with terminal deletion of Xp22.3.
    Schwinger E, Kirschstein M, Greiwe M, Konermann T, Orth U, Gal A.
    Am J Med Genet; 1996 May 03; 63(1):239-42. PubMed ID: 8723116
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