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Journal Abstract Search

347 related items for PubMed ID: 12116254

  • 21. SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
    Aza-Carmona M, Shears DJ, Yuste-Checa P, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Benito-Sanz S, Rodríguez JI, Argente J, Campos-Barros A, Scambler PJ, Heath KE.
    Hum Mol Genet; 2011 Apr 15; 20(8):1547-59. PubMed ID: 21262861
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  • 22. Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
    Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE.
    Eur J Hum Genet; 2011 Dec 15; 19(12):1218-25. PubMed ID: 21712857
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  • 23. 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 15; 86(12):5674-80. PubMed ID: 11739418
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  • 24. 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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  • 28. 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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  • 29. Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.
    Schneider KU, Sabherwal N, Jantz K, Röth R, Muncke N, Blum WF, Cutler GB, Rappold G.
    Am J Hum Genet; 2005 Jul 15; 77(1):89-96. PubMed ID: 15931595
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  • 30. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
    Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE.
    Am J Hum Genet; 2005 Oct 15; 77(4):533-44. PubMed ID: 16175500
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  • 33. Usefulness of MLPA in the detection of SHOX deletions.
    Funari MF, Jorge AA, Souza SC, Billerbeck AE, Arnhold IJ, Mendonca BB, Nishi MY.
    Eur J Med Genet; 2010 Oct 15; 53(5):234-8. PubMed ID: 20538086
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  • 35. Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.
    Vodopiutz J, Steurer LM, Haufler F, Laccone F, Garczarczyk-Asim D, Hilkenmeier M, Steinbauer P, Janecke AR.
    Genes (Basel); 2023 Apr 07; 14(4):. PubMed ID: 37107635
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  • 36. SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.
    Hristov G, Marttila T, Durand C, Niesler B, Rappold GA, Marchini A.
    Hum Mol Genet; 2014 Mar 15; 23(6):1619-30. PubMed ID: 24186869
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  • 40. Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.
    Bunyan DJ, Baffico M, Capone L, Vannelli S, Iughetti L, Schmitt S, Taylor EJ, Herridge AA, Shears D, Forabosco A, Coviello DA.
    Am J Med Genet A; 2016 Apr 15; 170A(4):949-57. PubMed ID: 26698168
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