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Journal Abstract Search

307 related items for PubMed ID: 1865474

  • 1. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
    Pallotta R.
    J Med Genet; 1991 May; 28(5):342-4. PubMed ID: 1865474
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  • 4. Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?
    Verloes A.
    J Med Genet; 1993 May; 30(5):425-6. PubMed ID: 8320709
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  • 7. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
    Ramer JC, Lin AE, Dobyns WB, Winter R, Aymé S, Pallotta R, Ladda RL.
    Am J Med Genet; 1995 Jul 03; 57(3):403-9. PubMed ID: 7545868
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  • 8. Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst.
    Fledelius HC.
    Acta Ophthalmol Scand Suppl; 1996 Jul 03; (219):23-6. PubMed ID: 8741111
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  • 9. Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.
    Mégarbané A, Le Merrer M, el Kallab K.
    Clin Dysmorphol; 1997 Jul 03; 6(3):239-44. PubMed ID: 9220194
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  • 11. Midline facial defects with ocular colobomata.
    Temple IK, Brunner H, Jones B, Burn J, Baraitser M.
    Am J Med Genet; 1990 Sep 03; 37(1):23-7. PubMed ID: 1700608
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  • 12. A new syndrome with ptosis, coloboma and mental retardation.
    Le Marec B, Odent S, Urvoy M.
    Genet Couns; 1992 Sep 03; 3(2):119-20. PubMed ID: 1642810
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  • 13. [Atypical cat eye syndrome. Fluorescence in situ hybridization of metaphase chromosomes].
    Bartsch O, Aksu F, Fenner A, Schwinger E.
    Monatsschr Kinderheilkd; 1992 Aug 03; 140(8):460-3. PubMed ID: 1359403
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  • 14. High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance.
    Avunduk AM, Aslan Y, Kapicioğlu Z, Elmas R.
    Acta Ophthalmol Scand; 2000 Apr 03; 78(2):221-2. PubMed ID: 10794262
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  • 15. A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant.
    Park JP, Moeschler JB, Berg SZ, Bauer RM, Wurster-Hill DH.
    Clin Genet; 1992 Jan 03; 41(1):54-6. PubMed ID: 1633649
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  • 16. Identification of a cat eye syndrome using DNA sequence dosage analysis.
    Bulle F, Lespinasse J, Pawlak A, Vadot E, Sastre J, Noël B, Guellaen G.
    Ann Genet; 1996 Jan 03; 39(3):139-43. PubMed ID: 8839885
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  • 17. Inverted duplication of 22pter----q11.21 in cat-eye syndrome.
    Hoo JJ, Robertson A, Fowlow SB, Bowen P, Lin CC.
    Am J Med Genet; 1986 Jul 03; 24(3):543-5. PubMed ID: 3728573
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  • 18. The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.
    Ganesh A, Al-Kindi A, Jain R, Raeburn S.
    J AAPOS; 2005 Dec 03; 9(6):604-6. PubMed ID: 16414535
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  • 19. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.
    Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS.
    J Med Genet; 1985 Aug 03; 22(4):283-7. PubMed ID: 4045954
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