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Items: 19

1.

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

Islam L, Kelberman D, Williamson L, Lewis N, Glindzicz MB, Nischal KK, Sowden JC.

Hum Mutat. 2015 Mar;36(3):296-300. doi: 10.1002/humu.22741.

PMID:
25504734
2.

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A.

Eur J Hum Genet. 2015 Mar;23(3):337-41. doi: 10.1038/ejhg.2014.119. Epub 2014 Jun 18.

3.

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
4.

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P.

Clin Genet. 2014 Oct;86(4):326-34. doi: 10.1111/cge.12275. Epub 2013 Oct 7.

PMID:
24033328
5.

Prenatal diagnosis of bilateral anophthalmia by 3D "reverse face" view ultrasound and magnetic resonance imaging.

Araujo Júnior E, Kawanami TE, Nardozza LM, Milani HJ, Oliveira PS, Moron AF.

Taiwan J Obstet Gynecol. 2012 Dec;51(4):616-9. doi: 10.1016/j.tjog.2012.09.018.

6.

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM.

BMC Med Genet. 2011 Dec 28;12:172. doi: 10.1186/1471-2350-12-172.

7.

Eye development genes and known syndromes.

Slavotinek AM.

Mol Genet Metab. 2011 Dec;104(4):448-56. doi: 10.1016/j.ymgme.2011.09.029. Epub 2011 Sep 29. Review.

8.

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.

Khan K, Rudkin A, Parry DA, Burdon KP, McKibbin M, Logan CV, Abdelhamed ZI, Muecke JS, Fernandez-Fuentes N, Laurie KJ, Shires M, Fogarty R, Carr IM, Poulter JA, Morgan JE, Mohamed MD, Jafri H, Raashid Y, Meng N, Piseth H, Toomes C, Casson RJ, Taylor GR, Hammerton M, Sheridan E, Johnson CA, Inglehearn CF, Craig JE, Ali M.

Am J Hum Genet. 2011 Sep 9;89(3):464-73. doi: 10.1016/j.ajhg.2011.08.005.

9.

Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis.

Minić S, Obradović M, Kovacević I, Trpinac D.

Srp Arh Celok Lek. 2010 Jul-Aug;138(7-8):408-13. Review.

10.

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.

Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV.

Clin Genet. 2011 Feb;79(2):158-68. doi: 10.1111/j.1399-0004.2010.01450.x.

11.
12.

Antenatal diagnosis of anophthalmia by three-dimensional ultrasound: a novel application of the reverse face view.

Wong HS, Parker S, Tait J, Pringle KC.

Ultrasound Obstet Gynecol. 2008 Jul;32(1):103-5. doi: 10.1002/uog.5322.

13.

Anophthalmia and microphthalmia.

Verma AS, Fitzpatrick DR.

Orphanet J Rare Dis. 2007 Nov 26;2:47. Review.

14.

Early sonographic detection of recurrent fetal eye anomalies.

Mashiach R, Vardimon D, Kaplan B, Shalev J, Meizner I.

Ultrasound Obstet Gynecol. 2004 Nov;24(6):640-3.

15.

Prenatal diagnosis of otocephaly with microphthalmia/anophthalmia using ultrasound and magnetic resonance imaging.

Chen CP, Wang KG, Huang JK, Chang TY, Lin YH, Chin DT, Tzen CY, Wang W.

Ultrasound Obstet Gynecol. 2003 Aug;22(2):214-5. No abstract available.

16.

Classification of microphthalmos and coloboma.

Warburg M.

J Med Genet. 1993 Aug;30(8):664-9. Review.

17.

Three dimensional ultrasound: abnormalities of the fetal face in surface and volume rendering mode.

Lee A, Deutinger J, Bernaschek G.

Br J Obstet Gynaecol. 1995 Apr;102(4):302-6.

PMID:
7612513
18.

Refractive development of the human eye.

Gordon RA, Donzis PB.

Arch Ophthalmol. 1985 Jun;103(6):785-9.

PMID:
4004614
19.

Simple microphthalmos.

Weiss AH, Kousseff BG, Ross EA, Longbottom J.

Arch Ophthalmol. 1989 Nov;107(11):1625-30.

PMID:
2818284

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