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Journal Abstract Search

157 related items for PubMed ID: 12161821

  • 1. Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
    Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH.
    Am J Hum Genet; 2002 Oct; 71(4):947-51. PubMed ID: 12161821
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  • 2. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
    Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL.
    Am J Hum Genet; 2003 Feb; 72(2):419-28. PubMed ID: 12491225
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  • 3. Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
    Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V.
    Am J Med Genet A; 2006 Mar 01; 140(5):421-6. PubMed ID: 16470731
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  • 4. Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia).
    Bayrak IK, Nural MS, Diren HB.
    Diagn Interv Radiol; 2005 Sep 01; 11(3):163-5. PubMed ID: 16206059
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  • 5. A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.
    Bakar A, Shams S, Bibi N, Ullah A, Ahmad W, Jelani M, Muthaffar OY, Abdulkareem AA, Abujamel TS, Haque A, Naseer MI, Khan B.
    Genes (Basel); 2023 Feb 17; 14(2):. PubMed ID: 36833437
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  • 6. Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
    Salian S, Cho TJ, Phadke SR, Gowrishankar K, Bhavani GS, Shukla A, Jagadeesh S, Kim OH, Nishimura G, Girisha KM.
    Am J Med Genet A; 2017 Mar 17; 173(3):588-595. PubMed ID: 28127940
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  • 7. Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder.
    Kinning E, Tufarelli C, Winship WS, Aldred MA, Trembath RC.
    J Med Genet; 2005 Dec 17; 42(12):e70. PubMed ID: 16326827
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  • 8. A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
    Abdullah, Shah PW, Nawaz S, Hussain S, Ullah A, Basit S, Ahmad W.
    Mol Biol Rep; 2020 Sep 17; 47(9):7083-7088. PubMed ID: 32886330
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  • 9. Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report.
    Yadav AK, Wadia F, Gawhale S, Panchal S, Talukder P, Mokashi M.
    J Orthop Case Rep; 2021 Aug 17; 11(8):84-86. PubMed ID: 35004383
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  • 12. Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
    Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Mégarbané A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V.
    J Med Genet; 2002 Oct 17; 39(10):714-7. PubMed ID: 12362026
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  • 13. Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.
    Burns C, Powell BR, Hsia YE, Reinker K.
    J Pediatr Orthop; 2003 Oct 17; 23(1):88-93. PubMed ID: 12499951
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  • 16. Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest.
    Nakamura K, Kurokawa T, Nagano A, Nakamura S, Taniguchi K, Hamazaki M.
    Am J Med Genet; 1997 Oct 03; 72(1):11-7. PubMed ID: 9295067
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  • 17. A novel RAB33B mutation in Smith-McCort dysplasia.
    Dupuis N, Lebon S, Kumar M, Drunat S, Graul-Neumann LM, Gressens P, El Ghouzzi V.
    Hum Mutat; 2013 Feb 03; 34(2):283-6. PubMed ID: 23042644
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  • 18. An extremely rare association of dyggve-melchior-clausen syndrome with mania: coincidence or comorbidity.
    Kar SK, Bansal S, Kumar D.
    Indian J Psychol Med; 2015 Feb 03; 37(2):226-9. PubMed ID: 25969613
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  • 20. Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.
    Aglan MS, Temtamy SA, Fateen E, Ashour AM, Eldeeb K, Hosny GA.
    J Child Orthop; 2009 Dec 03; 3(6):451-8. PubMed ID: 19816730
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