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PUBMED FOR HANDHELDS

Journal Abstract Search

243 related items for PubMed ID: 18328979

  • 21. Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.
    Figuera LE, Ramírez-Dueñas ML, Gallegos-Arreola MP, Cantú JM.
    Am J Med Genet; 1994 Jul 01; 51(3):213-5. PubMed ID: 8074146
    [Abstract] [Full Text] [Related]

  • 22. Spondylo-epiphyseal dysplasia tarda. A cause of premature osteoarthritis.
    Weinfeld A, Ross MW, Sarasohn SH.
    Am J Roentgenol Radium Ther Nucl Med; 1967 Dec 01; 101(4):851-9. PubMed ID: 4965292
    [No Abstract] [Full Text] [Related]

  • 23. Genetic skeletal dysplasia in Thailand: the Siriraj experience.
    Wasant P, Waeteekul S, Rimoin DL, Lachman RS.
    Southeast Asian J Trop Med Public Health; 1995 Dec 01; 26 Suppl 1():59-67. PubMed ID: 8629144
    [Abstract] [Full Text] [Related]

  • 24. A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.
    Elhossini RM, Ahmed HA, Otaify G, Ghorab RM, Amr K, Aglan M.
    Am J Med Genet A; 2022 Oct 01; 188(10):2861-2868. PubMed ID: 36097642
    [Abstract] [Full Text] [Related]

  • 25. An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.
    Menger H, Mundlos S, Becker K, Spranger J, Zabel B.
    Am J Med Genet; 1996 May 03; 63(1):80-3. PubMed ID: 8723091
    [Abstract] [Full Text] [Related]

  • 26. A case with spondylo-metaphyseal dysplasia type A4.
    Percin EF, Tukenmez M, Percin S.
    Genet Couns; 2004 May 03; 15(3):363-9. PubMed ID: 15517830
    [Abstract] [Full Text] [Related]

  • 27. [Pseudo-achondroplastic dysplasia. Apropos of a case].
    Pagniez B, Saint-Aubert P, Farriaux JP, Fontaine G.
    Ann Pediatr (Paris); 1972 Dec 02; 19(12):897-903. PubMed ID: 4630443
    [No Abstract] [Full Text] [Related]

  • 28. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
    Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR.
    Am J Med Genet A; 2015 Mar 02; 167A(3):461-75. PubMed ID: 25604898
    [Abstract] [Full Text] [Related]

  • 29. Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia.
    Biswas SN, Patra S, Chakraborty PP, Barman H.
    BMJ Case Rep; 2017 Oct 20; 2017():. PubMed ID: 29054894
    [Abstract] [Full Text] [Related]

  • 30. [DESCRIPTION OF BONE DISEASES. 3. SPONDYLO-EPIPHYSO-METAPHYSEAL DYSPLASIAS].
    LEFEBVRE J.
    Rev Rhum Mal Osteoartic; 1964 Dec 20; 31():753-9. PubMed ID: 14252440
    [No Abstract] [Full Text] [Related]

  • 31. Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features.
    Langer LO, Wolfson BJ, Scott CI, Reid CS, Schidlow DV, Millar EA, Borns PF, Lubicky JP, Carpenter BL.
    Am J Med Genet; 1993 Feb 15; 45(4):488-500. PubMed ID: 8465857
    [Abstract] [Full Text] [Related]

  • 32. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
    Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A.
    Am J Med Genet A; 2010 Jun 15; 152A(6):1443-9. PubMed ID: 20503319
    [Abstract] [Full Text] [Related]

  • 33. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
    Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S.
    Hum Genet; 2003 Jan 15; 112(1):84-90. PubMed ID: 12483304
    [Abstract] [Full Text] [Related]

  • 34. Brachyolmia: a report of two cases.
    Ikegawa S, Nakamura K, Nakamura S, Nagano A.
    J Pediatr Orthop; 1995 Jan 15; 15(1):105-7. PubMed ID: 7883917
    [Abstract] [Full Text] [Related]

  • 35. Does it always have to be Perthes' disease? What is epiphyseal dysplasia?
    Hesse B, Kohler G.
    Clin Orthop Relat Res; 2003 Sep 15; (414):219-27. PubMed ID: 12966296
    [Abstract] [Full Text] [Related]

  • 36. Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance.
    Park SM, Hall CM, Gray R, Firth HV.
    Am J Med Genet A; 2007 Sep 01; 143A(17):2024-8. PubMed ID: 17676604
    [Abstract] [Full Text] [Related]

  • 37. Brachyolmia and spinal stenosis.
    Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M.
    Am J Med Genet A; 2003 Jul 15; 120A(2):272-5. PubMed ID: 12833413
    [Abstract] [Full Text] [Related]

  • 38. Pseudoachondroplastic dysplasia: pathodynamics and management.
    Kopits SE, Lindstrom JA, McKusick VA.
    Birth Defects Orig Artic Ser; 1974 Jul 15; 10(12):341-52. PubMed ID: 4218774
    [No Abstract] [Full Text] [Related]

  • 39. Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia.
    Silverman FN, Reiley MA.
    Radiology; 1985 Aug 15; 156(2):365-71. PubMed ID: 3925497
    [Abstract] [Full Text] [Related]

  • 40. Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part III: Odontoid dysplasia.
    Nelson J, Thomas PS.
    Clin Genet; 1988 Feb 15; 33(2):126-30. PubMed ID: 3129223
    [Abstract] [Full Text] [Related]

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