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Items: 1 to 20 of 206

1.

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
2.

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, Jones I, Chalmers J, Campbell H.

J Med Genet. 2002 Jan;39(1):16-22.

3.

Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management.

Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies Special Interest Group.

Ophthalmology. 2012 Feb;119(2):362-8. doi: 10.1016/j.ophtha.2011.07.039. Epub 2011 Nov 4.

PMID:
22054996
4.

A practical guide to the management of anophthalmia and microphthalmia.

Ragge NK, Subak-Sharpe ID, Collin JR.

Eye (Lond). 2007 Oct;21(10):1290-300. Review.

PMID:
17914432
5.

Ocular and systemic findings associated with optic disc colobomas.

Berk AT, Yaman A, Saatçi AO.

J Pediatr Ophthalmol Strabismus. 2003 Sep-Oct;40(5):272-8.

PMID:
14560834
6.

Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain.

Bermejo E, Martínez-Frías ML.

Am J Med Genet. 1998 Feb 17;75(5):497-504.

PMID:
9489793
7.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G.

Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15.

8.

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno JC.

Br J Ophthalmol. 2010 Aug;94(8):1100-4. doi: 10.1136/bjo.2009.173500. Epub 2010 May 21.

PMID:
20494911
9.

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. doi: 10.1016/j.gene.2015.07.061. Epub 2015 Jul 18.

PMID:
26196063
10.

Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos.

Tucker S, Jones B, Collin R.

Eye (Lond). 1996;10 ( Pt 3):310-4.

PMID:
8796154
11.

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.

Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N.

Hum Mutat. 2008 Nov;29(11):E278-83. doi: 10.1002/humu.20869.

PMID:
18781617
12.

New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders.

Bierich JR, Christie M, Heinrich JJ, Martinez AS.

Eur J Pediatr. 1991 Feb;150(4):246-9.

PMID:
2029914
13.

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

Bardakjian TM, Kwok S, Slavotinek AM, Schneider AS.

Am J Med Genet A. 2010 Dec;152A(12):3120-3. doi: 10.1002/ajmg.a.33492.

PMID:
21082658
14.

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
15.

Systemic abnormalities in children with congenital optic disc excavations.

Beby F.

Curr Eye Res. 2015 Apr;40(4):450-5. doi: 10.3109/02713683.2014.925931. Epub 2014 Jun 9.

PMID:
24911672
16.

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK.

Br J Ophthalmol. 2007 Nov;91(11):1471-6. Epub 2007 May 23.

17.

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV.

Eur J Hum Genet. 2016 Apr;24(4):535-41. doi: 10.1038/ejhg.2015.155. Epub 2015 Jul 1.

18.

Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?

Richardson E, Davison C, Moore AT.

Ophthalmic Genet. 1996 Jun;17(2):59-65.

PMID:
8832722
19.

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, Ashiq A, Khan K, Booth AP, Williams G, Raashid Y, Jafri H, Rice A, Inglehearn CF, Zenteno JC.

Mol Vis. 2010 Jun 23;16:1162-8.

20.

The genetic architecture of microphthalmia, anophthalmia and coloboma.

Williamson KA, FitzPatrick DR.

Eur J Med Genet. 2014 Aug;57(8):369-80. doi: 10.1016/j.ejmg.2014.05.002. Epub 2014 May 22. Review.

PMID:
24859618

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