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Journal Abstract Search

540 related items for PubMed ID: 9140395

  • 1. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.
    Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA.
    Nat Genet; 1997 May; 16(1):54-63. PubMed ID: 9140395
    [Abstract] [Full Text] [Related]

  • 2. Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature.
    Shanske A, Ellison J, Vuguin P, Dowling P, Wasserman E, Heinrich J, Saenger P.
    Am J Med Genet; 1999 Jan 01; 82(1):34-9. PubMed ID: 9916840
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  • 3. 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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  • 4. A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.
    Karaman B, Wollnik B, Ermiş H, Yüksel-Apak M, Başaran S.
    Prenat Diagn; 2003 Apr 01; 23(4):336-9. PubMed ID: 12673642
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  • 5. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.
    Binder G, Schwarze CP, Ranke MB.
    J Clin Endocrinol Metab; 2000 Jan 01; 85(1):245-9. PubMed ID: 10634394
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  • 6. 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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  • 7. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
    Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T.
    J Clin Endocrinol Metab; 2002 Mar 01; 87(3):1402-6. PubMed ID: 11889216
    [Abstract] [Full Text] [Related]

  • 8. Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome.
    Blum WF, Cao D, Hesse V, Fricke-Otto S, Ross JL, Jones C, Quigley CA, Binder G.
    Horm Res; 2009 Mar 01; 71(3):167-72. PubMed ID: 19188742
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 66(1):130-5. PubMed ID: 17201812
    [Abstract] [Full Text] [Related]

  • 10. Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.
    Shanske AL, Puri M, Marshall B, Saenger P.
    Horm Res; 2007 Jan 01; 67(2):61-6. PubMed ID: 17028440
    [Abstract] [Full Text] [Related]

  • 11. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.
    Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM.
    Nat Genet; 1998 May 01; 19(1):70-3. PubMed ID: 9590293
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  • 12. [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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  • 18. 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 28; 49(7):442-50. PubMed ID: 22791839
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