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Journal Abstract Search

231 related items for PubMed ID: 21057182

  • 1. Bone dysplasias: the A, B, C of radiographic interpretation.
    Castriota-Scanderbeg A.
    J Endocrinol Invest; 2010 Jun; 33(6 Suppl):26-9. PubMed ID: 21057182
    [Abstract] [Full Text] [Related]

  • 2. Langer's mesomelic dysplasia: a case report.
    Aggarwal V, Aggarwal N, Venkat B.
    J Pediatr Orthop B; 2014 Mar; 23(2):200-2. PubMed ID: 23863349
    [Abstract] [Full Text] [Related]

  • 3. Short stature and dysmorphology associated with defects in the SHOX gene.
    Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E.
    Hormones (Athens); 2006 Mar; 5(2):107-18. PubMed ID: 16807223
    [Abstract] [Full Text] [Related]

  • 4. Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
    Albuisson J, Schmitt S, Baron S, Bézieau S, Benito-Sanz S, Heath KE.
    Eur J Hum Genet; 2012 Aug; 20(8):. PubMed ID: 22510850
    [No Abstract] [Full Text] [Related]

  • 5. [Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation].
    Llano-Rivas I, Fernández-Toral J, Navarro-Vera I.
    An Pediatr (Barc); 2011 Jun; 74(6):405-8. PubMed ID: 21397576
    [Abstract] [Full Text] [Related]

  • 6. 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 Jun; 26(7-8):729-34. PubMed ID: 23729538
    [Abstract] [Full Text] [Related]

  • 7. 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; 33(2):71-83. PubMed ID: 23883335
    [Abstract] [Full Text] [Related]

  • 8. A new concept of skeletal dysplasias.
    Tüysüz B.
    Turk J Pediatr; 2004 Apr; 46(3):197-203. PubMed ID: 15503470
    [Abstract] [Full Text] [Related]

  • 9. 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; 85(1):245-9. PubMed ID: 10634394
    [Abstract] [Full Text] [Related]

  • 10.
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  • 11. A review of the principles of radiological assessment of skeletal dysplasias.
    Alanay Y, Lachman RS.
    J Clin Res Pediatr Endocrinol; 2011 Jan; 3(4):163-78. PubMed ID: 22155458
    [Abstract] [Full Text] [Related]

  • 12. The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.
    Ross JL, Kowal K, Quigley CA, Blum WF, Cutler GB, Crowe B, Hovanes K, Elder FF, Zinn AR.
    J Pediatr; 2005 Oct; 147(4):499-507. PubMed ID: 16227037
    [Abstract] [Full Text] [Related]

  • 13. 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; 65(9):844-6. PubMed ID: 22461651
    [Abstract] [Full Text] [Related]

  • 14.
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  • 15. Variable expressivity in the skeletal dysplasias.
    Rimoin DL.
    Birth Defects Orig Artic Ser; 1979 Sep; 15(5B):91-112. PubMed ID: 526594
    [No Abstract] [Full Text] [Related]

  • 16. [Stunted growth and radiological bone age findings].
    Rodríguez Dehli AC, Rivas Crespo MF, Jiménez Treviño S.
    An Pediatr (Barc); 2006 Mar; 64(3):293-5. PubMed ID: 16527108
    [No Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Mesomelic skeletal dysplasias.
    Kaitila I, Leisti JT, Rimoin DL.
    Clin Orthop Relat Res; 1976 Jun 15; (114):94-106. PubMed ID: 1261139
    [Abstract] [Full Text] [Related]

  • 19. [Léri-Weill dyschondrosteosis. Report of a new familial case].
    Solís Sánchez G, Alonso Villa MJ, Cepeda Martínez A, Díaz Vázquez C, López Benito MM, Barreiro Daviña J, Fernández Toral J.
    An Esp Pediatr; 1993 Nov 15; 39(5):441-4. PubMed ID: 8285461
    [No Abstract] [Full Text] [Related]

  • 20. 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]

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