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Journal Abstract Search

144 related items for PubMed ID: 3801978

  • 21. Autosomal recessive colobomatous microphthalmia.
    Zlotogora J, Legum C, Raz J, Merin S, BenEzra D.
    Am J Med Genet; 1994 Feb 01; 49(3):261-2. PubMed ID: 8209881
    [Abstract] [Full Text] [Related]

  • 22. Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.
    Stephen J, Nampoothiri S, Kuppa S, Yesodharan D, Radhakrishnan N, Gahl WA, Malicdan MCV.
    Am J Med Genet A; 2018 Dec 01; 176(12):2930-2933. PubMed ID: 30513139
    [No Abstract] [Full Text] [Related]

  • 23. An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma.
    Warburg M.
    Ophthalmic Paediatr Genet; 1991 Jun 01; 12(2):57-63. PubMed ID: 1923314
    [Abstract] [Full Text] [Related]

  • 24. Corneal topographic features in a family with nanophthalmos.
    Srinivasan S, Batterbury M, Marsh IB, Fisher AC, Willoughby C, Kaye SB.
    Cornea; 2006 Jul 01; 25(6):750-6. PubMed ID: 17077675
    [Abstract] [Full Text] [Related]

  • 25. Visual acuity in children with coloboma: clinical features and a new phenotypic classification system.
    Hornby SJ, Adolph S, Gilbert CE, Dandona L, Foster A.
    Ophthalmology; 2000 Mar 01; 107(3):511-20. PubMed ID: 10711890
    [Abstract] [Full Text] [Related]

  • 26. Ocular coloboma: Genetic variants reveal a dynamic model of eye development.
    Yoon KH, Fox SC, Dicipulo R, Lehmann OJ, Waskiewicz AJ.
    Am J Med Genet C Semin Med Genet; 2020 Sep 01; 184(3):590-610. PubMed ID: 32852110
    [Abstract] [Full Text] [Related]

  • 27. Possible autosomal-recessive ocular coloboma.
    Pagon RA, Kalina RE, Lechner DJ.
    Am J Med Genet; 1981 Sep 01; 9(3):189-93. PubMed ID: 7282780
    [Abstract] [Full Text] [Related]

  • 28. Autosomal dominant typical coloboma associated with unilateral pseudoptosis, myopia and cataract.
    Porges Y.
    Cent Afr J Med; 1995 Aug 01; 41(8):255-7. PubMed ID: 7585914
    [Abstract] [Full Text] [Related]

  • 29. A newly recognized dominantly inherited syndrome: short stature, ocular and articular anomalies, mental retardation.
    Matsoukas J, Liarikos S, Giannikas A, Agoropoulos Z, Papachristou G, Soukakos P.
    Helv Paediatr Acta; 1973 Nov 01; 28(5):383-6. PubMed ID: 4773219
    [No Abstract] [Full Text] [Related]

  • 30. Congenital hypodontia of maxillary lateral incisors in association with coloboma of the iris and hypomaturation type of amelogenesis imperfecta in a large kindred.
    Atasu M, Eryilmaz A, Genc A, Ozcan M, Ozbayrak S.
    J Clin Pediatr Dent; 1997 Nov 01; 21(4):341-55. PubMed ID: 9484124
    [Abstract] [Full Text] [Related]

  • 31. Bilateral optic disc colobomas and microphthalmos in a thoroughbred horse.
    Williams DL, Barnett KC.
    Vet Rec; 1993 Jan 30; 132(5):101-3. PubMed ID: 8480406
    [Abstract] [Full Text] [Related]

  • 32. [Familial occurrence of congenital aniridia].
    Zalewska R, Midro AT, Bakunowicz-Lazarczyk A, Proniewska-Skretek E.
    Klin Oczna; 1992 Jan 30; 94(5-6):159-60. PubMed ID: 1453680
    [Abstract] [Full Text] [Related]

  • 33. Uveal colobomata and other anomalies in three generations of one family.
    Collum LM.
    Br J Ophthalmol; 1971 Jul 30; 55(7):458-61. PubMed ID: 4997531
    [No Abstract] [Full Text] [Related]

  • 34. 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 30; 111(7):1415-23. PubMed ID: 15234148
    [Abstract] [Full Text] [Related]

  • 35. A syndrome involving congenital cataracts of unusual morphology, microcornea, abnormal irides, nystagmus and congenital glaucoma, inherited as an autosomal dominant trait.
    Cebon L, West RH.
    Aust J Ophthalmol; 1982 Nov 30; 10(4):237-42. PubMed ID: 7159305
    [No Abstract] [Full Text] [Related]

  • 36. Colobomatous macrophthalmia with microcornea.
    Bateman JB, Maumenee IH.
    Ophthalmic Paediatr Genet; 1984 Aug 30; 4(2):59-66. PubMed ID: 6545385
    [Abstract] [Full Text] [Related]

  • 37. Inheritance of microphthalmia with coloboma in the Australian shepherd dog.
    Gelatt KN, Powell NG, Huston K.
    Am J Vet Res; 1981 Oct 30; 42(10):1686-90. PubMed ID: 7325429
    [Abstract] [Full Text] [Related]

  • 38. Ocular coloboma.
    Pagon RA.
    Surv Ophthalmol; 1981 Oct 30; 25(4):223-36. PubMed ID: 6782689
    [Abstract] [Full Text] [Related]

  • 39. Autosomal-dominant inheritance of megalocornea associated with down's syndrome.
    Rogers GL, Polomeno RC.
    Am J Ophthalmol; 1974 Sep 30; 78(3):526-9. PubMed ID: 4278003
    [No Abstract] [Full Text] [Related]

  • 40. Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another family.
    Pallotta R, Fusilli P, Sabatino G, Verrotti A, Chiarelli F.
    Am J Med Genet; 1998 Mar 19; 76(3):252-4. PubMed ID: 9508245
    [Abstract] [Full Text] [Related]

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