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Journal Abstract Search

330 related items for PubMed ID: 1316441

  • 1. Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?
    Zerres K, Rietschel M, Rietschel E, Majewski F, Meinecke P.
    J Med Genet; 1992 Apr; 29(4):269-71. PubMed ID: 1316441
    [Abstract] [Full Text] [Related]

  • 2. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
    Meinecke P.
    Genet Couns; 1993 Apr; 4(2):147-51. PubMed ID: 8395190
    [Abstract] [Full Text] [Related]

  • 3. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?
    Filippi G.
    Am J Med Genet; 1985 Dec; 22(4):821-4. PubMed ID: 4073130
    [Abstract] [Full Text] [Related]

  • 4. A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation.
    Schinzel A.
    Helv Paediatr Acta; 1980 Jul; 35(3):243-51. PubMed ID: 6250998
    [Abstract] [Full Text] [Related]

  • 5. A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.
    Utine GE, Breckpot J, Thienpont B, Alanay Y, Aksoy C, Boduroğlu K, Devriendt K.
    Am J Med Genet A; 2010 Apr; 152A(4):947-9. PubMed ID: 20358606
    [Abstract] [Full Text] [Related]

  • 6. A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.
    Vinkler C, Leshinsky-Silver E, Michelson M, Haas D, Lerman-Sagie T, Lev D.
    Eur J Med Genet; 2014 Apr; 57(6):288-92. PubMed ID: 24709618
    [Abstract] [Full Text] [Related]

  • 7. Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome?
    Richieri-Costa A, Colletto GM, Otto PA.
    Am J Med Genet; 1985 Aug; 21(4):637-42. PubMed ID: 4025394
    [Abstract] [Full Text] [Related]

  • 8. Smith-Lemli-Opitz syndrome: review and report of two affected siblings.
    Johnson VP.
    Z Kinderheilkd; 1975 Aug; 119(4):221-34. PubMed ID: 166525
    [Abstract] [Full Text] [Related]

  • 9. Craniofacial manifestations of Smith-Lemli-Opitz syndrome: case report.
    Antoniades K, Peonidis A, Pehlivanidis C, Kavadia S, Panagiotidis P.
    Int J Oral Maxillofac Surg; 1994 Dec; 23(6 Pt 1):363-5. PubMed ID: 7699276
    [Abstract] [Full Text] [Related]

  • 10. Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation.
    Tsukahara M, Matsuo K, Furukawa S.
    Am J Med Genet; 1995 Aug 28; 58(2):159-60. PubMed ID: 8533809
    [Abstract] [Full Text] [Related]

  • 11. A new craniodigital syndrome with mental retardation.
    Scott CR, Bryant JI, Graham CB.
    J Pediatr; 1971 Apr 28; 78(4):658-63. PubMed ID: 4323269
    [No Abstract] [Full Text] [Related]

  • 12. Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
    Tedesco MG, Lonardo F, Ceccarini C, Cesarano C, Digilio MC, Magliozzi M, Rogaia D, Mencarelli A, Leoni C, Piscopo C, Imperatore V, Falco MT, Fontana P, Nardone AM, Novelli A, Troiani S, Seri M, Prontera P.
    Am J Med Genet A; 2021 Apr 28; 185(4):1204-1210. PubMed ID: 33442900
    [Abstract] [Full Text] [Related]

  • 13. Filippi syndrome: further clinical characterization.
    Battaglia A, Filippi T, Pusceddu S, Williams CA.
    Am J Med Genet A; 2008 Jul 15; 146A(14):1848-52. PubMed ID: 18553552
    [Abstract] [Full Text] [Related]

  • 14. An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.
    Stinson JL, Brault JA, Delk PR, Graham BH, Karmazyn B, Hall B, Weaver DD.
    Am J Med Genet A; 2020 Jul 15; 182(7):1562-1571. PubMed ID: 32426895
    [Abstract] [Full Text] [Related]

  • 15. Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.
    Wieczorek D, Köster B, Gillessen-Kaesbach G.
    Am J Med Genet; 2002 Mar 15; 108(3):209-13. PubMed ID: 11891687
    [Abstract] [Full Text] [Related]

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  • 17. Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair: new syndrome?
    Kozlowski K, Krajewska M.
    Am J Med Genet; 1997 Jan 20; 68(2):142-6. PubMed ID: 9028447
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  • 19. The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.
    Halal F, Morel J.
    Am J Med Genet; 1990 Sep 20; 37(1):106-8. PubMed ID: 2240026
    [Abstract] [Full Text] [Related]

  • 20. The Smith-Lemli-Opitz syndrome in a profoundly retarded epileptic boy.
    Chakanovskis JE, Sutherland GR.
    J Ment Defic Res; 1971 Sep 20; 15(3):153-62. PubMed ID: 5098076
    [No Abstract] [Full Text] [Related]

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