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Journal Abstract Search

274 related items for PubMed ID: 2596515

  • 1. Autosomal recessive form of whistling face syndrome in sibs.
    Dallapiccola B, Giannotti A, Lembo A, Saguì L.
    Am J Med Genet; 1989 Aug; 33(4):542-4. PubMed ID: 2596515
    [Abstract] [Full Text] [Related]

  • 2. Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family.
    Wang TR, Lin SJ.
    Am J Med Genet; 1987 Oct; 28(2):471-5. PubMed ID: 3425620
    [Abstract] [Full Text] [Related]

  • 3. Whistling face (Freeman-Sheldon) syndrome in two siblings.
    Bekir N, Bayraktaroğlu Z, Coşkun Y, Karaaslan C.
    Turk J Pediatr; 1994 Oct; 36(4):329-32. PubMed ID: 7825240
    [Abstract] [Full Text] [Related]

  • 4. Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance.
    Koiffmann CP, Wajntal A, Huyke BJ, Castro RM.
    Am J Med Genet; 1988 Feb; 29(2):263-8. PubMed ID: 3354597
    [Abstract] [Full Text] [Related]

  • 5. Diagnostic criteria for the whistling face syndrome.
    Antley RM, Uga N, Burzynski NJ, Baum RS, Bixler D.
    Birth Defects Orig Artic Ser; 1975 Feb; 11(5):161-8. PubMed ID: 1218209
    [No Abstract] [Full Text] [Related]

  • 6. Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?
    McPherson E, Clemens M.
    Am J Med Genet; 1996 Mar 01; 62(1):58-60. PubMed ID: 8779326
    [Abstract] [Full Text] [Related]

  • 7. Whistling face syndrome. A case report and literature review.
    Millner MM, Mutz ID, Rosenkranz W.
    Acta Paediatr Hung; 1991 Mar 01; 31(3):279-89. PubMed ID: 1742043
    [Abstract] [Full Text] [Related]

  • 8. Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family.
    Richieri-Costa A, Guion-Almeida ML, Pagnan NA.
    Am J Med Genet; 1992 Dec 01; 44(6):800-2. PubMed ID: 1481850
    [Abstract] [Full Text] [Related]

  • 9. Autosomal recessive type of whistling face syndrome in twins.
    Kousseff BG, McConnachie P, Hadro TA.
    Pediatrics; 1982 Mar 01; 69(3):328-31. PubMed ID: 7199706
    [Abstract] [Full Text] [Related]

  • 10. The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome.
    Moerman P, Fryns JP, Vandenberghe K, Devlieger H, Lauweryns JM.
    Am J Med Genet; 1988 Dec 01; 31(4):805-14. PubMed ID: 3239572
    [Abstract] [Full Text] [Related]

  • 11. The Bartsocas-Papas syndrome: autosomal recessive form of popliteal pterygium syndrome in a male infant.
    Papadia F, Zimbalatti F, La Rosa CG.
    Am J Med Genet; 1984 Apr 01; 17(4):841-7. PubMed ID: 6720749
    [Abstract] [Full Text] [Related]

  • 12. [The Freeman-Sheldon Syndrome].
    Aldinger G, Eulert J.
    Z Orthop Ihre Grenzgeb; 1983 Apr 01; 121(5):630-3. PubMed ID: 6649811
    [Abstract] [Full Text] [Related]

  • 13. Hypomandibular faciocranial dysostosis: another case and review.
    Ludman MD, Vincer MJ, Cron C, Aguiar M, Cohen MM.
    Am J Med Genet; 1993 Sep 01; 47(3):352-6. PubMed ID: 8135280
    [Abstract] [Full Text] [Related]

  • 14. Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.
    Schrander-Stumpel C, de Die-Smulders C, Fryns JP, da Costa J, Bouckaert P.
    Am J Med Genet; 1990 Sep 01; 37(1):133-5. PubMed ID: 2240030
    [Abstract] [Full Text] [Related]

  • 15. [Whistling face syndrome (Burian)].
    Rickhey B.
    Z Orthop Ihre Grenzgeb; 1971 Jul 01; 109(3):532-4. PubMed ID: 4254815
    [No Abstract] [Full Text] [Related]

  • 16. A new acro-cranio-facial dysostosis syndrome in sisters.
    Kaplan P, Plauchu H, Fitch N, Jéquier S.
    Am J Med Genet; 1988 Jan 01; 29(1):95-106. PubMed ID: 3344780
    [Abstract] [Full Text] [Related]

  • 17. Aarskog syndrome in a Brazilian boy born to consanguineous parents.
    Guion-Almeida ML, Richieri-Costa A.
    Am J Med Genet; 1992 Jul 15; 43(5):808-10. PubMed ID: 1642267
    [Abstract] [Full Text] [Related]

  • 18. Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.
    Bamforth JS, Leonard CO, Chodirker BN, Chitayat D, Gritter HL, Evans JA, Keena B, Pantzar T, Friedman JM, Hall JG.
    Am J Med Genet; 1989 Jan 15; 32(1):93-9. PubMed ID: 2650550
    [Abstract] [Full Text] [Related]

  • 19. A new autosomal recessive disorder resembling Weaver syndrome.
    Teebi AS, Sundareshan TS, Hammouri MY, al-Awadi SA, al-Saleh QA.
    Am J Med Genet; 1989 Aug 15; 33(4):479-82. PubMed ID: 2596508
    [Abstract] [Full Text] [Related]

  • 20. A child with sclerocornea, short limbs, short stature, and distinct facial appearance.
    Thompson EM, Winter RM.
    Am J Med Genet; 1988 Jul 15; 30(3):719-24. PubMed ID: 3055984
    [Abstract] [Full Text] [Related]

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