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Journal Abstract Search

266 related items for PubMed ID: 11509862

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  • 3. 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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  • 4. [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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  • 5. 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 28; 86(12):5674-80. PubMed ID: 11739418
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  • 6. Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
    Binder G.
    Horm Res Paediatr; 2011 Feb 28; 75(2):81-9. PubMed ID: 21325865
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  • 7. Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis.
    Salmon-Musial AS, Rosilio M, David M, Huber C, Pichot E, Cormier-Daire V, Nicolino M.
    Horm Res Paediatr; 2011 Feb 28; 76(3):178-85. PubMed ID: 21912078
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  • 8. 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 28; 85(1):245-9. PubMed ID: 10634394
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  • 9. SHOX: growth, Léri-Weill and Turner syndromes.
    Blaschke RJ, Rappold GA.
    Trends Endocrinol Metab; 2000 Aug 28; 11(6):227-30. PubMed ID: 10878753
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  • 10. Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndrome.
    Tauber M, Lounis N, Coulet J, Baunin C, Cahuzac JP, Rochiccioli P.
    Eur J Pediatr; 2004 Aug 28; 163(8):475-81. PubMed ID: 15197587
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  • 11. 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
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  • 12. Radiological and clinical analysis of Madelung's deformity in children.
    Huguet S, Leheup B, Aslan M, Muller F, Dautel G, Journeau P, French Society of Pediatric Orthopaedics (SOFOP).
    Orthop Traumatol Surg Res; 2014 Oct 28; 100(6 Suppl):S349-52. PubMed ID: 25217032
    [Abstract] [Full Text] [Related]

  • 13. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.
    Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T.
    J Clin Endocrinol Metab; 1999 Dec 28; 84(12):4613-21. PubMed ID: 10599728
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  • 14. The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011).
    De Sanctis V, Tosetto I, Iughetti L, Antoniazzi F, Clementi M, Toffolutti T, Facchin P, Monti E, Pisanello L, Tonini G, Greggio NA.
    Pediatr Endocrinol Rev; 2012 Aug 28; 9(4):727-33. PubMed ID: 23304810
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  • 15.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Binder G, Rappold GA.
    ; 1993 Aug 28. PubMed ID: 20301394
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  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. SHOX in short stature syndromes.
    Blaschke RJ, Rappold GA.
    Horm Res; 2001 Jul 28; 55 Suppl 1():21-3. PubMed ID: 11408757
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  • 18. Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.
    Palka G, Stuppia L, Guanciali Franchi P, Chiarelli F, Fischetto R, Borrelli P, Giannotti A, Fioretti G, Rinaldi MM, Mingarelli R, Rappold GA, Calabrese G.
    Clin Genet; 2000 Jun 28; 57(6):449-53. PubMed ID: 10905666
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  • 19. Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.
    Depeyre A, Schlund M, Nicot R, Ferri J.
    J Oral Maxillofac Surg; 2019 Apr 28; 77(4):762-768. PubMed ID: 30529377
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  • 20. SHOX haploinsufficiency and its modifying factors.
    Ogata T.
    J Pediatr Endocrinol Metab; 2002 Dec 28; 15 Suppl 5():1289-94. PubMed ID: 12510982
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