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Journal Abstract Search

237 related items for PubMed ID: 8281271

  • 1. Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?
    Wilkie AO, Taylor D, Scambler PJ, Baraitser M.
    Clin Dysmorphol; 1993 Apr; 2(2):114-9. PubMed ID: 8281271
    [Abstract] [Full Text] [Related]

  • 2. Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects.
    Lindor NM, Michels VV, Hoppe DA, Driscoll DJ, Leavitt JA, Dewald GW.
    Am J Med Genet; 1992 Sep 01; 44(1):61-5. PubMed ID: 1519653
    [Abstract] [Full Text] [Related]

  • 3. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
    Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K.
    Eur J Hum Genet; 2005 May 01; 13(5):563-9. PubMed ID: 15770227
    [Abstract] [Full Text] [Related]

  • 4. Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.
    Temtamy SA, Ismail SI, Meguid NA.
    Genet Couns; 2000 May 01; 11(2):147-52. PubMed ID: 10893665
    [Abstract] [Full Text] [Related]

  • 5. Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.
    Zhu X, Dai FR, Wang J, Zhang Y, Tan ZP, Zhang Y.
    Gene; 2015 Oct 15; 571(1):142-4. PubMed ID: 26196063
    [Abstract] [Full Text] [Related]

  • 6. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
    Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D, DDD Study, Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N.
    Hum Genet; 2019 Sep 15; 138(8-9):1051-1069. PubMed ID: 29974297
    [Abstract] [Full Text] [Related]

  • 7. Oculo-facio-cardio-dental (OFCD) syndrome.
    Opitz C, Horn D, Lehmann R, Dimitrova T, Fasmers-Henke K.
    J Orofac Orthop; 1998 Sep 15; 59(3):178-85. PubMed ID: 9640004
    [Abstract] [Full Text] [Related]

  • 8. Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.
    Redwood A, Douzgou S, Waller S, Ramsden S, Roberts A, Bonin H, Lloyd IC, Ashworth J, Black GCM, Clayton-Smith J.
    Eur J Med Genet; 2020 Feb 15; 63(2):103658. PubMed ID: 31048080
    [Abstract] [Full Text] [Related]

  • 9.
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  • 10. Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.
    Müllner-Eidenböck A, Moser E, Klebermass N, Amon M, Walter MC, Lochmüller H, Gooding R, Kalaydjieva L.
    Ophthalmology; 2004 Jul 15; 111(7):1415-23. PubMed ID: 15234148
    [Abstract] [Full Text] [Related]

  • 11. Persistent fetal vasculature and minimal fetal vascular remnants: a frequent cause of unilateral congenital cataracts.
    Müllner-Eidenböck A, Amon M, Moser E, Klebermass N.
    Ophthalmology; 2004 May 15; 111(5):906-13. PubMed ID: 15121367
    [Abstract] [Full Text] [Related]

  • 12. A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease).
    Balci S, Demirçeken FG, Ocal B, Zorlu P, Teziç T.
    Turk J Pediatr; 2001 May 15; 43(4):366-8. PubMed ID: 11765173
    [Abstract] [Full Text] [Related]

  • 13. A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?
    Wieczorek D, Gillessen-Kaesbach G, Passarge E.
    Genet Couns; 1995 May 15; 6(4):297-302. PubMed ID: 8775415
    [Abstract] [Full Text] [Related]

  • 14. Progeroid syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts, calcification of basal ganglia and atrium septum defect type 2.
    Fryns JP, Dumoulin M, Hens G.
    Genet Couns; 1999 May 15; 10(4):395-8. PubMed ID: 10631929
    [Abstract] [Full Text] [Related]

  • 15. Ocular manifestations of congenital rubella syndrome in a developing country.
    Vijayalakshmi P, Kakkar G, Samprathi A, Banushree R.
    Indian J Ophthalmol; 2002 Dec 15; 50(4):307-11. PubMed ID: 12532496
    [Abstract] [Full Text] [Related]

  • 16. Microphthalmia with linear skin defects: a case report and review.
    Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL.
    Pediatr Dermatol; 2008 Dec 15; 25(5):548-52. PubMed ID: 18950397
    [Abstract] [Full Text] [Related]

  • 17. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.
    Feberwee HE, Feenstra I, Oberoi S, Sama IE, Ockeloen CW, Clum F, Slavotinek A, Kuijpers MA, Dooijes D, Kuijpers-Jagtman AM, Kleefstra T, Carels CE.
    Clin Genet; 2014 Feb 15; 85(2):194-7. PubMed ID: 23557072
    [No Abstract] [Full Text] [Related]

  • 18. [Ophthalmologic manifestations of congenital rubella].
    Merdassi A, Limaiem R, Turki F, Chaker N, Falfoul Y, Mghaieth F, Korchane N, Matri LE.
    Arch Pediatr; 2011 Aug 15; 18(8):870-3. PubMed ID: 21665443
    [Abstract] [Full Text] [Related]

  • 19. Unilateral isolated microphthalmia inherited as an autosomal recessive trait.
    Fleckenstein M, Maumenee IH.
    Ophthalmic Genet; 2005 Dec 15; 26(4):163-8. PubMed ID: 16352476
    [Abstract] [Full Text] [Related]

  • 20. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
    Ng D, Hadley DW, Tifft CJ, Biesecker LG.
    Am J Med Genet; 2002 Jul 15; 110(4):308-14. PubMed ID: 12116202
    [Abstract] [Full Text] [Related]

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