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Journal Abstract Search


147 related items for PubMed ID: 3430550

  • 1. Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly.
    Young ID, Madders DJ.
    J Med Genet; 1987 Nov; 24(11):714-5. PubMed ID: 3430550
    [Abstract] [Full Text] [Related]

  • 2. [Prenatal diagnosis of holoprosencephaly with postaxial polydactyly, cardiopathy with normal karyotype].
    Salamanca A, Padilla MC, Sabatel RM, Motos MA, Stemper K, Gonzalez-Gomez F.
    Geburtshilfe Frauenheilkd; 1992 Dec; 52(12):783-5. PubMed ID: 1490560
    [Abstract] [Full Text] [Related]

  • 3. Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report.
    Ramaekers PR, Legius E, Verloes A, Gillerot Y, Vandenberghe K, Fryns JP.
    Eur J Obstet Gynecol Reprod Biol; 1990 Dec; 36(1-2):161-5. PubMed ID: 2365121
    [Abstract] [Full Text] [Related]

  • 4. Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.
    Bachman H, Clark RD, Salahi W.
    J Med Genet; 1990 Jan; 27(1):50-2. PubMed ID: 2407847
    [Abstract] [Full Text] [Related]

  • 5. [Holoprosencephaly, polydactyly, cardiopathy: new syndrome or a new case of hydrolethalus?].
    André SA, Cordier MP, Beaufrère AM, Guillaud M, Robert JM.
    J Genet Hum; 1988 Dec; 36(5):463-8. PubMed ID: 3216192
    [Abstract] [Full Text] [Related]

  • 6. Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly.
    Chen CP, Lin SP, Chen MR, Su JW, Chern SR, Chen YJ, Lee MS, Wang W.
    Genet Couns; 2012 Dec; 23(2):195-200. PubMed ID: 22876577
    [Abstract] [Full Text] [Related]

  • 7. Familial holoprosencephaly, heart defects, and polydactyly.
    Hennekam RC, van Noort G, de la Fuente AA.
    Am J Med Genet; 1991 Nov 01; 41(2):258-62. PubMed ID: 1785646
    [Abstract] [Full Text] [Related]

  • 8. Holoprosencephaly and postaxial polydactyly: another observation.
    Moerman P, Fryns JP.
    J Med Genet; 1988 Jul 01; 25(7):501-2. PubMed ID: 3172147
    [No Abstract] [Full Text] [Related]

  • 9. Phenotypic variability in Patau syndrome.
    Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV.
    Rev Med Chir Soc Med Nat Iasi; 2013 Jul 01; 117(2):321-7. PubMed ID: 24340511
    [Abstract] [Full Text] [Related]

  • 10. Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.
    Verloes A, Aymé S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J.
    J Med Genet; 1991 May 01; 28(5):297-303. PubMed ID: 1865466
    [Abstract] [Full Text] [Related]

  • 11. [Kaufmann syndrome or VACTERL association? Discussion of a differential diagnosis].
    Dodinval P, Daemers G, Legat C.
    J Genet Hum; 1984 Jun 01; 32(2):129-36. PubMed ID: 6736938
    [Abstract] [Full Text] [Related]

  • 12. Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report.
    Sivasli O, Ozer EA, Ozer A, Aydinlioglu H, Helvaci M.
    Genet Couns; 2007 Jun 01; 18(2):247-50. PubMed ID: 17710878
    [Abstract] [Full Text] [Related]

  • 13. A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma.
    Sandal G, Tok L, Ormeci AR.
    Genet Couns; 2014 Jun 01; 25(1):49-52. PubMed ID: 24783655
    [Abstract] [Full Text] [Related]

  • 14. Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?
    Schinzel A.
    Helv Paediatr Acta; 1979 May 01; 34(2):141-6. PubMed ID: 457430
    [Abstract] [Full Text] [Related]

  • 15. Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.
    Goecke T, Dopfer R, Huenges R, Conzelmann W, Feller A, Majewski F.
    Eur J Pediatr; 1981 Jul 01; 136(3):297-305. PubMed ID: 7262101
    [Abstract] [Full Text] [Related]

  • 16. [Townes-Brocks syndrome. Case report and review of the literature].
    Kotzot D, Lorenz P, Bieber A, Gröbe H.
    Monatsschr Kinderheilkd; 1992 Jun 01; 140(6):343-5. PubMed ID: 1640945
    [Abstract] [Full Text] [Related]

  • 17. Holoprosencephaly, ventricular septal defect, and postaxial polydactyly in a human embryo.
    Shiota K, Tanimura T.
    J Med Genet; 1988 Jul 01; 25(7):502-3. PubMed ID: 3172148
    [No Abstract] [Full Text] [Related]

  • 18. Holoprosencephaly, polydactyly and normal chromosomes: pseudo-trisomy 13?
    Hewitt BG, Seller MJ, Bennett CP, Maxwell DM.
    Clin Genet; 1989 Aug 01; 36(2):141-3. PubMed ID: 2766571
    [No Abstract] [Full Text] [Related]

  • 19. Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?
    Unsinn KM, Neu N, Krejci A, Posch A, Menardi G, Gassner I.
    J Med Genet; 1995 Feb 01; 32(2):125-8. PubMed ID: 7760322
    [Abstract] [Full Text] [Related]

  • 20. Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome.
    Lowry RB.
    Am J Med Genet; 1983 Mar 01; 14(3):429-33. PubMed ID: 6859094
    [No Abstract] [Full Text] [Related]


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