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Items: 1 to 20 of 136

1.

Uveal coloboma: clinical and basic science update.

Chang L, Blain D, Bertuzzi S, Brooks BP.

Curr Opin Ophthalmol. 2006 Oct;17(5):447-70. Review.

PMID:
16932062
2.

Maldevelopment of neural crest cells in patients with typical uveal coloboma.

Ozeki H, Shirai S, Nozaki M, Ikeda K, Ogura Y.

J Pediatr Ophthalmol Strabismus. 1999 Nov-Dec;36(6):337-41.

PMID:
11132666
3.

CHARGE association: histopathological report of two cases and a review.

Hayashi N, Valdes-Dapena M, Green WR.

J Pediatr Ophthalmol Strabismus. 1998 Mar-Apr;35(2):100-6. Review.

PMID:
9559509
4.

[Molecular diagnosis of CHARGE syndrom].

Pedersen AM, Skovby F.

Ugeskr Laeger. 2007 Jan 29;169(5):402-6. Review. Danish.

PMID:
17280632
5.

Ocular coloboma: a reassessment in the age of molecular neuroscience.

Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.

J Med Genet. 2004 Dec;41(12):881-91. Review.

6.

A discussion of 61 cases of optic nerve coloboma.

van Dalen JT, Delleman JW, Yogiantoro M.

Doc Ophthalmol. 1983 Dec 15;56(1-2):177-81.

PMID:
6662005
7.

Adolescent and adult issues in CHARGE syndrome.

Blake KD, Salem-Hartshorne N, Daoud MA, Gradstein J.

Clin Pediatr (Phila). 2005 Mar;44(2):151-9.

PMID:
15735833
8.

Ocular colobomata.

Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E.

Surv Ophthalmol. 2000 Nov-Dec;45(3):175-94. Review.

PMID:
11094243
9.

Colobomatous macrophthalmia with microcornea.

Bateman JB, Maumenee IH.

Ophthalmic Paediatr Genet. 1984 Aug;4(2):59-66.

PMID:
6545385
10.

Uveal colobomata and Klinefelter syndrome.

Hashmi MS, Karseras AG.

Br J Ophthalmol. 1976 Sep;60(9):661-4. No abstract available.

11.

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.

Eccles MR, Schimmenti LA.

Clin Genet. 1999 Jul;56(1):1-9. Review.

PMID:
10466411
12.

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. doi: 10.1001/jamaophthalmol.2013.5305.

PMID:
24177921
13.

Uveal coloboma associated with amniotic band syndrome.

BenEzra D, Frucht Y.

Can J Ophthalmol. 1983 Apr;18(3):136-8.

PMID:
6871792
14.

Ocular coloboma.

Pagon RA.

Surv Ophthalmol. 1981 Jan-Feb;25(4):223-36. Review.

PMID:
6782689
15.

The genetic implications of optic disc anomalies.

Taylor DS.

Trans Ophthalmol Soc U K. 1985;104 ( Pt 8):853-6.

PMID:
3868877
16.

Uveal coloboma and true Klinefelter syndrome.

Fran├žois J, Leuven MT, Gombault P.

J Med Genet. 1970 Sep;7(3):213-23. No abstract available.

17.

Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: further delineation of presumed new dysmorphic syndrome.

Cuturilo G, Jovanovic I, Vukomanovic G, Djukic M, Stefanovic I, Atanskovic-Markovic M.

Birth Defects Res A Clin Mol Teratol. 2008 Mar;82(3):166-8. doi: 10.1002/bdra.20441.

PMID:
18232021
18.

Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.

Gage PJ, Hurd EA, Martin DM.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7923-30. doi: 10.1167/iovs.15-18069.

19.

Renal coloboma syndrome.

Schimmenti LA.

Eur J Hum Genet. 2011 Dec;19(12):1207-12. doi: 10.1038/ejhg.2011.102. Epub 2011 Jun 8. Review.

20.

[An analysis of 193 cases of congenital intraocular colobomas].

Lu BX.

Zhonghua Yan Ke Za Zhi. 1989 Nov;25(6):357-9. Chinese.

PMID:
2697542
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