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Journal Abstract Search

239 related items for PubMed ID: 15173321

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  • 8. 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; 19(1):67-9. PubMed ID: 9590292
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  • 12. Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein.
    Marchini A, Daeffler L, Marttila T, Schneider KU, Blaschke RJ, Schnölzer M, Rommelaere J, Rappold G.
    J Mol Biol; 2006 Jan 20; 355(3):590-603. PubMed ID: 16325853
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  • 15. Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).
    Barroso E, Benito-Sanz S, Belinchón A, Yuste-Checa P, Gracia R, Aragones A, Campos-Barros A, Heath KE.
    Eur J Med Genet; 2010 Jan 20; 53(4):204-7. PubMed ID: 20412871
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  • 16. The human SHOX mutation database.
    Niesler B, Fischer C, Rappold GA.
    Hum Mutat; 2002 Nov 20; 20(5):338-41. PubMed ID: 12402330
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  • 17. [From gene to disease; from SHOX to Lèri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature].
    Kant SG, Drop SL.
    Ned Tijdschr Geneeskd; 2001 Jul 28; 145(30):1456-9. PubMed ID: 11503314
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  • 20. A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.
    Sabherwal N, Blaschke RJ, Marchini A, Heine-Suner D, Rosell J, Ferragut J, Blum WF, Rappold G.
    J Med Genet; 2004 Jun 28; 41(6):e83. PubMed ID: 15173249
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