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Journal Abstract Search

354 related items for PubMed ID: 19400538

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  • 2. 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; 53(4):204-7. PubMed ID: 20412871
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  • 4. 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; 19(1):70-3. PubMed ID: 9590293
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  • 7. 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; 96(2):E404-12. PubMed ID: 21147883
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  • 9. Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.
    Benito-Sanz S, Aza-Carmona M, Rodríguez-Estevez A, Rica-Etxebarria I, Gracia R, Campos-Barros A, Heath KE.
    Eur J Hum Genet; 2012 Jan; 20(1):125-7. PubMed ID: 22071895
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  • 12. Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
    Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklöf O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjöld M, Hagenäs L, Dumanski JP.
    Hum Genet; 2001 Nov; 109(5):551-8. PubMed ID: 11735031
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  • 13. The SHOX region and its mutations.
    Capone L, Iughetti L, Sabatini S, Bacciaglia A, Forabosco A.
    J Endocrinol Invest; 2010 Jun; 33(6 Suppl):11-4. PubMed ID: 21057179
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  • 15. 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; 79(5):489-94. PubMed ID: 20681991
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  • 16. SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.
    Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Häusler G, Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB.
    J Clin Endocrinol Metab; 2004 Sep; 89(9):4403-8. PubMed ID: 15356038
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  • 18. Phenotypes Associated with SHOX Deficiency.
    Ross JL, Scott C, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR.
    J Clin Endocrinol Metab; 2001 Dec; 86(12):5674-80. PubMed ID: 11739418
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