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Journal Abstract Search

112 related items for PubMed ID: 1456287

  • 1. Long-term evaluation of a child with the branchio-oculo-facial syndrome.
    Schmerler S, Kushnick T, Desposito F.
    Am J Med Genet; 1992 Sep 15; 44(2):177-8. PubMed ID: 1456287
    [Abstract] [Full Text] [Related]

  • 2. Further delineation of the branchio-oculo-facial syndrome.
    Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P.
    Am J Med Genet; 1995 Mar 13; 56(1):42-59. PubMed ID: 7747785
    [Abstract] [Full Text] [Related]

  • 3. Branchio-oculo-facial syndrome: broadening the spectrum.
    McCool M, Weaver DD.
    Am J Med Genet; 1994 Feb 15; 49(4):414-21. PubMed ID: 8160736
    [Abstract] [Full Text] [Related]

  • 4. Branchio-oculo-facial syndrome with the atresia of external ear.
    Ozturk O, Tokmak A, Demirci L, Silan F, Guclu E.
    Int J Pediatr Otorhinolaryngol; 2005 Nov 15; 69(11):1575-8. PubMed ID: 15936829
    [Abstract] [Full Text] [Related]

  • 5. A lethal syndrome resembling branchio-oculo-facial syndrome.
    Hing AV, Torack R, Dowton SB.
    Clin Genet; 1992 Feb 15; 41(2):74-8. PubMed ID: 1544215
    [Abstract] [Full Text] [Related]

  • 6. Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome.
    Chitayat D, Hodgkinson KA, Chen MF, Haber GD, Nakishima S, Sando I.
    Am J Med Genet; 1992 Aug 01; 43(6):970-5. PubMed ID: 1415348
    [Abstract] [Full Text] [Related]

  • 7. New autosomal dominant branchio-oculo-facial syndrome.
    Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG.
    Am J Med Genet; 1987 Aug 01; 27(4):943-51. PubMed ID: 3321995
    [Abstract] [Full Text] [Related]

  • 8. Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities.
    Lin AE, Doherty R, Lea D.
    Clin Genet; 1992 Apr 01; 41(4):221-3. PubMed ID: 1576761
    [No Abstract] [Full Text] [Related]

  • 9. Report of a case and further delineation of the SHORT syndrome.
    Toriello HV, Wakefield S, Komar K, Higgins JV, Waterman DF.
    Am J Med Genet; 1985 Oct 01; 22(2):311-4. PubMed ID: 4050863
    [Abstract] [Full Text] [Related]

  • 10. Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review.
    Bastaki L, El-Nabi MM, Azab AS, Gouda SA, Al-Wadaani AM, Naguib KK.
    East Mediterr Health J; 2007 Oct 01; 13(4):975-9. PubMed ID: 17955782
    [No Abstract] [Full Text] [Related]

  • 11. Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis.
    Mazzone D, Milana A, Carpinato C.
    Eur J Pediatr; 1992 Apr 01; 151(4):312. PubMed ID: 1499589
    [No Abstract] [Full Text] [Related]

  • 12. Branchio-oculo-facial syndrome associated with a white forelock.
    Mégarbané A, Hawat N, Chedid P, Bleik J, Délézoïde AL.
    Clin Dysmorphol; 1998 Jul 01; 7(3):221-3. PubMed ID: 9689999
    [Abstract] [Full Text] [Related]

  • 13. Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).
    Stratakis CA, Lin JP, Rennert OM.
    Am J Med Genet; 1998 Sep 23; 79(3):209-14. PubMed ID: 9788564
    [Abstract] [Full Text] [Related]

  • 14. Autosomal dominant Russell-Silver syndrome.
    Al-Fifi S, Teebi AS, Shevell M.
    Am J Med Genet; 1996 Jan 02; 61(1):96-7. PubMed ID: 8741931
    [No Abstract] [Full Text] [Related]

  • 15. Pitt-Rogers-Danks syndrome: further delineation.
    Lizcano-Gil LA, García-Cruz D, García-Cruz O, Sánchez-Corona J.
    Am J Med Genet; 1995 Feb 13; 55(4):420-2. PubMed ID: 7762580
    [Abstract] [Full Text] [Related]

  • 16. Growth deficiency, facial dysmorphogenesis and brachydactyly: a new syndrome.
    Frias JL, Guttery EG, Felman AH.
    Birth Defects Orig Artic Ser; 1975 Feb 13; 11(2):30-3. PubMed ID: 1227535
    [No Abstract] [Full Text] [Related]

  • 17. Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio-Oculo-Facial syndrome (BOFS).
    Kaiser R, Posteguillo EG, Müller D, Just W.
    Am J Med Genet A; 2007 Sep 15; 143A(18):2185-8. PubMed ID: 17676609
    [No Abstract] [Full Text] [Related]

  • 18. Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.
    Rollnick BR, Kaye CI.
    Am J Med Genet; 1987 May 15; 27(1):233. PubMed ID: 3605200
    [No Abstract] [Full Text] [Related]

  • 19. Weaver syndrome in two Japanese children.
    Kondo I, Mori Y, Kuwajima K.
    Am J Med Genet; 1991 Nov 01; 41(2):221-4. PubMed ID: 1785638
    [Abstract] [Full Text] [Related]

  • 20. Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.
    Clemens M, Martsolf JT, Rogers JG, Mowery-Rushton P, Surti U, McPherson E.
    Am J Med Genet; 1996 Dec 02; 66(1):95-100. PubMed ID: 8957524
    [Abstract] [Full Text] [Related]

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