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Journal Abstract Search

232 related items for PubMed ID: 9555581

  • 1. Neonatal death in Marshall-Smith syndrome.
    Chatel C, Maazoul F, Sigaudy S, Fredouille C, Ayme S, Philip N.
    Genet Couns; 1998; 9(1):15-8. PubMed ID: 9555581
    [Abstract] [Full Text] [Related]

  • 2. Neonatal Marshall-Smith syndrome.
    Gómez-Santos E, Lloreda-García JM, Fernández-Fructuoso JR, Martínez-Ferrández C, Leante-Castellanos JL, Fuentes-Gutiérrez C.
    Clin Dysmorphol; 2014 Apr; 23(2):42-44. PubMed ID: 24556605
    [No Abstract] [Full Text] [Related]

  • 3. Marshall-Smith syndrome and septo-optic dysplasia: an unreported association.
    Travan L, Oretti C, Zennaro F, Demarini S.
    Am J Med Genet A; 2008 Aug 15; 146A(16):2138-40. PubMed ID: 18627063
    [Abstract] [Full Text] [Related]

  • 4. Skeletal dysplasias with gracile bones: three new cases, including two offspring of a mother with a dwarfing condition.
    Costa T, Azouz EM, Fitzpatrick J, Kamel-Reid S, Smith CR, Silver MM.
    Am J Med Genet; 1998 Mar 05; 76(2):125-32. PubMed ID: 9511974
    [Abstract] [Full Text] [Related]

  • 5. Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
    Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M.
    Hum Mutat; 2014 Sep 05; 35(9):1092-100. PubMed ID: 24924640
    [Abstract] [Full Text] [Related]

  • 6. Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.
    van Balkom ID, Shaw A, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC.
    J Intellect Disabil Res; 2011 Oct 05; 55(10):973-87. PubMed ID: 21790824
    [Abstract] [Full Text] [Related]

  • 7. Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations.
    Johnson JP, Carey JC, Glassy FJ, Paglieroni T, Lipson MH.
    Pediatrics; 1983 Feb 05; 71(2):219-23. PubMed ID: 6823423
    [Abstract] [Full Text] [Related]

  • 8. A pigmentary skin defect is a new finding in Marshall-Smith syndrome.
    Passalacqua C, Melo C, Martín LM, Rojas F, Sanz P, Taucher SC, Aranibar L.
    Am J Med Genet A; 2011 Aug 05; 155A(8):2015-7. PubMed ID: 21739579
    [Abstract] [Full Text] [Related]

  • 9. Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
    Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P.
    Am J Med Genet; 2002 Apr 22; 109(2):139-48. PubMed ID: 11977163
    [Abstract] [Full Text] [Related]

  • 10. Marshall-Smith syndrome.
    Herman TE, Siegel MJ.
    J Perinatol; 2015 Apr 22; 35(4):307-9. PubMed ID: 25813678
    [No Abstract] [Full Text] [Related]

  • 11. Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association.
    Twede JV, Difazio M.
    Pediatr Dermatol; 2009 Apr 22; 26(1):97-9. PubMed ID: 19250421
    [Abstract] [Full Text] [Related]

  • 12. A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.
    Bupp C, Junewick J, Hess JL.
    Clin Dysmorphol; 2020 Oct 22; 29(4):214-216. PubMed ID: 32701632
    [No Abstract] [Full Text] [Related]

  • 13. [A case of Marshall-Smith syndrome].
    Watanabe Y, Tanaka Y, Umemura N, Koitabashi T.
    Masui; 2003 Aug 22; 52(8):860-2. PubMed ID: 13677277
    [Abstract] [Full Text] [Related]

  • 14. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
    Martinez F, Marín-Reina P, Sanchis-Calvo A, Perez-Aytés A, Oltra S, Roselló M, Mayo S, Monfort S, Pantoja J, Orellana C.
    Pediatr Res; 2015 Nov 22; 78(5):533-9. PubMed ID: 26200704
    [Abstract] [Full Text] [Related]

  • 15. [Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)].
    Jalaguier J, Montoya F, Germain M, Bonnet H.
    J Genet Hum; 1983 Dec 22; 31 Suppl 5():385-95. PubMed ID: 6674414
    [Abstract] [Full Text] [Related]

  • 16. Osseous fragility in Marshall-Smith syndrome.
    Diab M, Raff M, Gunther DF.
    Am J Med Genet A; 2003 Jun 01; 119A(2):218-22. PubMed ID: 12749068
    [Abstract] [Full Text] [Related]

  • 17. Sib pair with previously unreported skeletal dysplasia.
    Mégarbané A, Dagher R, Melki I.
    Am J Med Genet A; 2008 Nov 15; 146A(22):2916-9. PubMed ID: 18925669
    [Abstract] [Full Text] [Related]

  • 18. Marshall-Smith syndrome: further delineation.
    Yoder CC, Wiswell T, Cornish JD, Cunningham BE, Crumbaker DH.
    South Med J; 1988 Oct 15; 81(10):1297-300. PubMed ID: 3051433
    [Abstract] [Full Text] [Related]

  • 19. Marshall-Smith syndrome: a distinct entity.
    Sharma AK, Haldar A, Phadke S, Agarwal SS.
    Indian Pediatr; 1994 Sep 15; 31(9):1098-100. PubMed ID: 7883370
    [No Abstract] [Full Text] [Related]

  • 20. Recurrent Fraser syndrome.
    Kiran G, Namita G, Dheeraj S.
    Prenat Diagn; 2007 Feb 15; 27(2):184-5. PubMed ID: 17266165
    [No Abstract] [Full Text] [Related]

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