Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 170

1.

A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M, JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet DF, FitzPatrick D, Kwok PY, Ellgaard L, Gould DB, Zhang Y, Malicki J, Baier H, Slavotinek A.

PLoS One. 2010 May 11;5(5):e10565. doi: 10.1371/journal.pone.0010565.

2.

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

London NJ, Kessler P, Williams B, Pauer GJ, Hagstrom SA, Traboulsi EI.

Mol Vis. 2009;15:162-7. Epub 2009 Jan 21.

3.

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.

4.

Whole-genome copy number variation analysis in anophthalmia and microphthalmia.

Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV.

Clin Genet. 2013 Nov;84(5):473-81. doi: 10.1111/cge.12202. Epub 2013 Jun 17.

5.

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

Ullah E, Wu D, Madireddy L, Lao R, Ling-Fung Tang P, Wan E, Bardakjian T, Kopinsky S, Kwok PY, Schneider A, Baranzini S, Ansar M, Slavotinek A.

Ophthalmic Genet. 2017 Jul-Aug;38(4):371-375. doi: 10.1080/13816810.2016.1217550. Epub 2016 Sep 23.

PMID:
27661448
6.

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, Schneider A, Choi A, Jorgenson E, Baier H, El Sada M, Schorderet DF, Slavotinek AM.

Hum Mol Genet. 2013 Aug 15;22(16):3250-8. doi: 10.1093/hmg/ddt179. Epub 2013 Apr 15.

7.

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV.

Am J Med Genet A. 2009 Dec;149A(12):2706-15. doi: 10.1002/ajmg.a.33098. Erratum in: Am J Med Genet A. 2012 Jan;158A(1):267.

8.

Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis.

Pillai-Kastoori L, Wen W, Wilson SG, Strachan E, Lo-Castro A, Fichera M, Musumeci SA, Lehmann OJ, Morris AC.

PLoS Genet. 2014 Jul 10;10(7):e1004491. doi: 10.1371/journal.pgen.1004491. eCollection 2014 Jul.

9.

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
10.

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
11.

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

Zhang X, Li S, Xiao X, Jia X, Wang P, Shen H, Guo X, Zhang Q.

Mol Vis. 2009 Dec 27;15:2911-8.

12.

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
13.

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

Aijaz S, Clark BJ, Williamson K, van Heyningen V, Morrison D, Fitzpatrick D, Collin R, Ragge N, Christoforou A, Brown A, Hanson I.

Invest Ophthalmol Vis Sci. 2004 Nov;45(11):3871-6.

PMID:
15505031
14.

VSX2 mutations in autosomal recessive microphthalmia.

Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV.

Mol Vis. 2011;17:2527-32. Epub 2011 Sep 28.

15.

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.

Reis LM, Semina EV.

Birth Defects Res C Embryo Today. 2015 Jun;105(2):96-113. doi: 10.1002/bdrc.21097. Epub 2015 Jun 3. Review.

16.

Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.

Gallardo ME, Rodríguez De Córdoba S, Schneider AS, Dwyer MA, Ayuso C, Bovolenta P.

Am J Med Genet A. 2004 Aug 15;129A(1):92-4. No abstract available.

PMID:
15266624
17.

Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.

Abouzeid H, Favez T, Schmid A, Agosti C, Youssef M, Marzouk I, El Shakankiry N, Bayoumi N, Munier FL, Schorderet DF.

Hum Mutat. 2014 Aug;35(8):949-53. doi: 10.1002/humu.22580. Epub 2014 Jun 3.

PMID:
24777706
18.

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.

Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen JE, Conroy J, Regan R, Kenny E, Cormican P, Morris DW, Tormey P, Chróinín MN, Kennedy BN, Lynch S, Green A, Ennis S.

Hum Mutat. 2011 Dec;32(12):1417-26. doi: 10.1002/humu.21590. Epub 2011 Sep 29.

19.

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV.

Clin Genet. 2014 Nov;86(5):475-81. doi: 10.1111/cge.12379. Epub 2014 Apr 12.

20.

Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.

Desmaison A, Vigouroux A, Rieubland C, Peres C, Calvas P, Chassaing N.

Mol Vis. 2010 Dec 18;16:2847-9.

Supplemental Content

Support Center