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Journal Abstract Search

219 related items for PubMed ID: 12872816

  • 1. A rare cause of short stature: Leri Weill dyschondrosteosis.
    Cakir M, Kalyoncu M, Odemiş E, Okten A.
    Genet Couns; 2003; 14(2):215-20. PubMed ID: 12872816
    [Abstract] [Full Text] [Related]

  • 2. Madelung deformity as a feature of the Leri-Layani-Weill syndrome or dyschondrosteosis.
    Sharif K, Saint-Martin C, Clapuyt P.
    J Belge Radiol; 1997 Dec; 80(6):292-3. PubMed ID: 9479892
    [Abstract] [Full Text] [Related]

  • 3. Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.
    Shanske AL, Puri M, Marshall B, Saenger P.
    Horm Res; 2007 Dec; 67(2):61-6. PubMed ID: 17028440
    [Abstract] [Full Text] [Related]

  • 4. Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.
    Jorge AA, Funari MF, Nishi MY, Mendonca BB.
    Pediatr Endocrinol Rev; 2010 Dec; 8(2):79-85. PubMed ID: 21150837
    [Abstract] [Full Text] [Related]

  • 5. SHOX haploinsufficiency and its modifying factors.
    Ogata T.
    J Pediatr Endocrinol Metab; 2002 Dec; 15 Suppl 5():1289-94. PubMed ID: 12510982
    [Abstract] [Full Text] [Related]

  • 6. Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome.
    Binder G, Fritsch H, Schweizer R, Ranke MB.
    Horm Res; 2001 Dec; 55(2):71-6. PubMed ID: 11509862
    [Abstract] [Full Text] [Related]

  • 7. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.
    Hirschfeldova K, Solc R, Baxova A, Zapletalova J, Kebrdlova V, Gaillyova R, Prasilova S, Soukalova J, Mihalova R, Lnenicka P, Florianova M, Stekrova J.
    Gene; 2012 Jan 10; 491(2):123-7. PubMed ID: 22020182
    [Abstract] [Full Text] [Related]

  • 8. 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 10; 19(1):70-3. PubMed ID: 9590293
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 147(4):499-507. PubMed ID: 16227037
    [Abstract] [Full Text] [Related]

  • 10. 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 10; 66(1):130-5. PubMed ID: 17201812
    [Abstract] [Full Text] [Related]

  • 11. 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 10; 84(12):4613-21. PubMed ID: 10599728
    [Abstract] [Full Text] [Related]

  • 12. 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 Dec 10; 53(4):204-7. PubMed ID: 20412871
    [Abstract] [Full Text] [Related]

  • 13. A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene.
    Choi WB, Seo SH, Yoo WH, Kim SY, Kwak MJ.
    Ann Pediatr Endocrinol Metab; 2015 Sep 10; 20(3):162-5. PubMed ID: 26512353
    [Abstract] [Full Text] [Related]

  • 14.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Binder G, Rappold GA.
    ; 1993 Sep 10. PubMed ID: 20301394
    [Abstract] [Full Text] [Related]

  • 15. Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.
    Schneider KU, Marchini A, Sabherwal N, Röth R, Niesler B, Marttila T, Blaschke RJ, Lawson M, Dumic M, Rappold G.
    Hum Mutat; 2005 Jul 10; 26(1):44-52. PubMed ID: 15931687
    [Abstract] [Full Text] [Related]

  • 16. 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 10; 163(8):475-81. PubMed ID: 15197587
    [Abstract] [Full Text] [Related]

  • 17. 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 10; 27(10):1062. PubMed ID: 16941489
    [Abstract] [Full Text] [Related]

  • 18. 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 Oct 10; 20(1):9-17. PubMed ID: 19400538
    [Abstract] [Full Text] [Related]

  • 19. 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 10; 100(6 Suppl):S349-52. PubMed ID: 25217032
    [Abstract] [Full Text] [Related]

  • 20. Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias.
    Caksen H, Kurtoğlu S.
    Genet Couns; 2004 Oct 10; 15(1):81-5. PubMed ID: 15083704
    [Abstract] [Full Text] [Related]

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