These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 12598450)

  • 1. The familial contribution to non-syndromic ocular coloboma in south India.
    Hornby SJ; Dandona L; Jones RB; Stewart H; Gilbert CE
    Br J Ophthalmol; 2003 Mar; 87(3):336-40. PubMed ID: 12598450
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
    Tibrewal S; Subhedar K; Sen P; Mohan A; Singh S; Shah C; Nischal KK; Ganesh S;
    Br J Ophthalmol; 2021 Jul; 105(7):897-903. PubMed ID: 32829301
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. Hereditary microphthalmia with colobomatous cyst.
    Porges Y; Gershoni-Baruch R; Leibu R; Goldscher D; Zonis S; Shapira I; Miller B
    Am J Ophthalmol; 1992 Jul; 114(1):30-4. PubMed ID: 1621783
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotypic correlations of ocular coloboma without known cause.
    Leppig KA; Pagon RA
    Clin Dysmorphol; 1993 Oct; 2(4):322-31. PubMed ID: 8305963
    [TBL] [Abstract][Full Text] [Related]  

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

  • 8. Clinical findings, consanguinity, and pedigrees in children with anophthalmos in southern India.
    Hornby SJ; Dandona L; Foster A; Jones RB; Gilbert CE
    Dev Med Child Neurol; 2001 Jun; 43(6):392-8. PubMed ID: 11409828
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.
    Skalicky SE; White AJ; Grigg JR; Martin F; Smith J; Jones M; Donaldson C; Smith JE; Flaherty M; Jamieson RV
    JAMA Ophthalmol; 2013 Dec; 131(12):1517-24. PubMed ID: 24177921
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic mapping of a novel X-linked recessive colobomatous microphthalmia.
    Lehman DM; Sponsel WE; Stratton RF; Mensah J; Macdonald JC; Johnson-Pais TL; Coon H; Reveles XT; Cody JD; Leach RJ
    Am J Med Genet; 2001 Jun; 101(2):114-9. PubMed ID: 11391653
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations.
    Schmidt D; Shin YS; Auw-Haedrich C; Tacke U
    Acta Ophthalmol; 2011 Aug; 89(5):489-94. PubMed ID: 20222886
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.
    Huang XF; Huang ZQ; Lin D; Dai ML; Wang QF; Chen ZJ; Jin ZB; Wang Y
    Sci Rep; 2017 Aug; 7(1):9064. PubMed ID: 28831107
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Colobomatous malformations of the eye.
    Maumenee IH; Mitchell TN
    Trans Am Ophthalmol Soc; 1990; 88():123-32; discussion 133-5. PubMed ID: 2095017
    [No Abstract]   [Full Text] [Related]  

  • 14. Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in
    Goolam S; Carstens N; Ross M; Bentley D; Lopes M; Peden J; Kingsbury Z; Tsogka E; Barlow R; Carmichael TR; Ramsay M; Williams SE
    Mol Vis; 2018; 24():407-413. PubMed ID: 29930474
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.
    Parmeggiani F; Milan E; Costagliola C; Giuliano M; Moro A; Steindler P; Sebastiani A
    Eye (Lond); 2004 Apr; 18(4):421-8. PubMed ID: 15069441
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Environmental risk factors in congenital malformations of the eye.
    Hornby SJ; Ward SJ; Gilbert CE; Dandona L; Foster A; Jones RB
    Ann Trop Paediatr; 2002 Mar; 22(1):67-77. PubMed ID: 11926054
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?
    Mégarbané A; Haddad-Zebouni S; Nabbout R; Khoury AH; Traboulsi EI
    Am J Med Genet; 1999 Mar; 83(2):82-7. PubMed ID: 10190477
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.
    Ozgül RK; Bozkurt B; Kiratli H; Oğüş A
    Eye (Lond); 2006 Jul; 20(7):817-9. PubMed ID: 16082399
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Corneal changes in familial iris coloboma.
    Soong HK; Raizman MB
    Ophthalmology; 1986 Mar; 93(3):335-9. PubMed ID: 3703500
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.