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347 related items for PubMed ID: 12116254

  • 1. Complete SHOX deficiency causes Langer mesomelic dysplasia.
    Zinn AR, Wei F, Zhang L, Elder FF, Scott CI, Marttila P, Ross JL.
    Am J Med Genet; 2002 Jun 15; 110(2):158-63. PubMed ID: 12116254
    [Abstract] [Full Text] [Related]

  • 2. Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.
    Shears DJ, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM.
    Am J Med Genet; 2002 Jun 15; 110(2):153-7. PubMed ID: 12116253
    [Abstract] [Full Text] [Related]

  • 3. 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 15; 19(1):67-9. PubMed ID: 9590292
    [Abstract] [Full Text] [Related]

  • 4. Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.
    Sabherwal N, Schneider KU, Blaschke RJ, Marchini A, Rappold G.
    J Cell Sci; 2004 Jun 15; 117(Pt 14):3041-8. PubMed ID: 15173321
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 19(1):70-3. PubMed ID: 9590293
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Epidemiology of SHOX deficiency.
    Nicolosi A, Caruso-Nicoletti M.
    J Endocrinol Invest; 2010 Jun 15; 33(6 Suppl):7-10. PubMed ID: 21057178
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 109(5):551-8. PubMed ID: 11735031
    [Abstract] [Full Text] [Related]

  • 9. FGFR3 is a target of the homeobox transcription factor SHOX in limb development.
    Decker E, Durand C, Bender S, Rödelsperger C, Glaser A, Hecht J, Schneider KU, Rappold G.
    Hum Mol Genet; 2011 Apr 15; 20(8):1524-35. PubMed ID: 21273290
    [Abstract] [Full Text] [Related]

  • 10. A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.
    Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L, Mur A, Calvo D, Pascual I Bardají J, Milà M.
    J Clin Pathol; 2012 Sep 15; 65(9):844-6. PubMed ID: 22461651
    [Abstract] [Full Text] [Related]

  • 11. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.
    Benito-Sanz S, del Blanco DG, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE.
    Hum Mutat; 2006 Oct 15; 27(10):1062. PubMed ID: 16941489
    [Abstract] [Full Text] [Related]

  • 12. Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.
    Iughetti L, Madeo S, Predieri B.
    J Endocrinol Invest; 2010 Jun 15; 33(6 Suppl):34-8. PubMed ID: 21057184
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 49(7):442-50. PubMed ID: 22791839
    [Abstract] [Full Text] [Related]

  • 14. 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 Jul 15; 53(4):204-7. PubMed ID: 20412871
    [Abstract] [Full Text] [Related]

  • 15. Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome.
    Mutesa L, Vanbellinghen JF, Hellin AC, Segers K, Jamar M, Pierquin G, Bours V.
    Genet Couns; 2009 Jul 15; 20(1):9-17. PubMed ID: 19400538
    [Abstract] [Full Text] [Related]

  • 16. The SHOX region and its mutations.
    Capone L, Iughetti L, Sabatini S, Bacciaglia A, Forabosco A.
    J Endocrinol Invest; 2010 Jun 15; 33(6 Suppl):11-4. PubMed ID: 21057179
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 18. Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.
    Rodríguez FA, Unanue N, Hernandez MI, Basaure J, Heath KE, Cassorla F.
    J Pediatr Endocrinol Metab; 2013 Jul 28; 26(7-8):729-34. PubMed ID: 23729538
    [Abstract] [Full Text] [Related]

  • 19. Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.
    Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V.
    Am J Med Genet A; 2010 Sep 28; 152A(9):2230-5. PubMed ID: 20683993
    [Abstract] [Full Text] [Related]

  • 20. Langer mesomelic dysplasia in early fetuses: two cases and a literature review.
    Ambrosetti F, Palicelli A, Bulfamante G, Rivasi F.
    Fetal Pediatr Pathol; 2014 Apr 28; 33(2):71-83. PubMed ID: 23883335
    [Abstract] [Full Text] [Related]

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