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Journal Abstract Search

151 related items for PubMed ID: 21966286

  • 1. Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.
    Kenis V, Baindurashvili A, Melchenko E, Grill F, Al Kaissi A.
    Ger Med Sci; 2011; 9():Doc25. PubMed ID: 21966286
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  • 3. Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis.
    Latrech H, Skiker I, Bentata Y, Alami Z, Mouhib Lav O, Oulali N, Benajiba N, Benmassoud S, El Jabri M, Gaouzi A, Gharbi MH, Chradibi A.
    Pediatr Endocrinol Rev; 2013 Dec; 11(2):181-5. PubMed ID: 24575553
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  • 5. Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings.
    Nectoux E, Hocquet B, Fron D, Mezel A, Paris A, Herbaux B.
    Orthop Traumatol Surg Res; 2013 Oct; 99(6):745-8. PubMed ID: 24035654
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  • 10. 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 Oct; 37(2):226-9. PubMed ID: 25969613
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  • 12. [Clinical and genetic analysis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome due to a novel frameshift variant of DYM gene].
    Kuang L, Peng R, Liu B, Xi D, Chang Q, Gao Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr 10; 39(4):370-373. PubMed ID: 35446968
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  • 13. Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus.
    Alshammari MJ, Al-Otaibi L, Alkuraya FS.
    J Med Genet; 2012 Jul 10; 49(7):455-61. PubMed ID: 22652534
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  • 14. 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 10; 47(9):7083-7088. PubMed ID: 32886330
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  • 15. Dyggve-Melchior-Clausen syndrome.
    Beighton P.
    J Med Genet; 1990 Aug 10; 27(8):512-5. PubMed ID: 2213845
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  • 16. Heterogeneity of Dyggve-Melchior-Clausen dwarfism.
    Spranger J, Bierbaum B, Herrmann J.
    Hum Genet; 1976 Aug 30; 33(3):279-87. PubMed ID: 964990
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  • 17. Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
    Khalifa O, Imtiaz F, Al-Sakati N, Al-Manea K, Verloes A, Al-Owain M.
    Eur J Pediatr; 2011 Jan 30; 170(1):121-6. PubMed ID: 20865280
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  • 19. 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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  • 20. [Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio disease].
    Coëslier A, Boute-Bénéjean O, Moerman A, Fron D, Manouvrier-Hanu S.
    Arch Pediatr; 2001 Aug 17; 8(8):838-42. PubMed ID: 11524915
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