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Journal Abstract Search

160 related items for PubMed ID: 17288936

  • 1.
    ; . PubMed ID:
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  • 2. A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.
    Seven M, Koparir E, Gezdirici A, Aydin H, Skladny H, Fenercioğlu E, Güven G, Karataş ÖF, Koparir A, Özen M, Ulucan H.
    Clin Dysmorphol; 2014 Jan; 23(1):1-7. PubMed ID: 24300288
    [Abstract] [Full Text] [Related]

  • 3. 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; 39(10):714-7. PubMed ID: 12362026
    [Abstract] [Full Text] [Related]

  • 4. A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review.
    Elalaoui SC, Mariam T, Ilham R, Yassamine D, Abdelaziz S.
    Indian J Hum Genet; 2011 May; 17(2):97-9. PubMed ID: 22090722
    [Abstract] [Full Text] [Related]

  • 5. 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; 47(9):7083-7088. PubMed ID: 32886330
    [Abstract] [Full Text] [Related]

  • 6. Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
    Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V.
    Eur J Hum Genet; 2005 May; 13(5):541-6. PubMed ID: 15726110
    [Abstract] [Full Text] [Related]

  • 7. 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; 11(8):84-86. PubMed ID: 35004383
    [Abstract] [Full Text] [Related]

  • 8. Recent advances in Dyggve-Melchior-Clausen syndrome.
    Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V.
    Mol Genet Metab; 2004 Aug; 83(1-2):51-9. PubMed ID: 15464420
    [Abstract] [Full Text] [Related]

  • 9. [Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease].
    Rodríguez Rodríguez CM, Pineda Marfa M, Duque R, Cormier-Daire V.
    Neurologia; 2007 Mar; 22(2):126-9. PubMed ID: 17323241
    [Abstract] [Full Text] [Related]

  • 10. Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.
    Toledo SP, Saldanha PH, Lamego C, Mourão PA, Dietrich CP, Mattar E.
    Am J Med Genet; 1979 Mar; 4(3):255-61. PubMed ID: 117710
    [Abstract] [Full Text] [Related]

  • 11. 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 Mar; 37(2):226-9. PubMed ID: 25969613
    [Abstract] [Full Text] [Related]

  • 12. [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; 8(8):838-42. PubMed ID: 11524915
    [Abstract] [Full Text] [Related]

  • 13. The Dyggve-Melchior-Clausen syndrome in adult siblings.
    Bonafede RP, Beighton P.
    Clin Genet; 1978 Jul; 14(1):24-30. PubMed ID: 679519
    [Abstract] [Full Text] [Related]

  • 14. 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; 170(1):121-6. PubMed ID: 20865280
    [Abstract] [Full Text] [Related]

  • 15. 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; 3(6):451-8. PubMed ID: 19816730
    [Abstract] [Full Text] [Related]

  • 16. Dyggve melchior clausen syndrome.
    Gupta V, Kohli A, Dewan V.
    Indian Pediatr; 2010 Nov; 47(11):973-5. PubMed ID: 21149903
    [Abstract] [Full Text] [Related]

  • 17. Atlantoaxial instability in Dyggve-Melchior-Clausen syndrome. Case report and review of the literature.
    Kandziora F, Neumann L, Schnake KJ, Khodadadyan-Klostermann C, Rehart S, Haas NP, Mittlmeier T.
    J Neurosurg; 2002 Jan; 96(1 Suppl):112-7. PubMed ID: 11795698
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 20. Heterogeneity of Dyggve-Melchior-Clausen dwarfism.
    Spranger J, Bierbaum B, Herrmann J.
    Hum Genet; 1976 Aug 30; 33(3):279-87. PubMed ID: 964990
    [Abstract] [Full Text] [Related]

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