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Items: 1 to 20 of 105

1.

Cavitary anomalies of the optic disc: neurologic significance.

Golnik KC.

Curr Neurol Neurosci Rep. 2008 Sep;8(5):409-13. Review.

PMID:
18713577
2.

Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.

Higashide T, Wada T, Sakurai M, Yokoyama H, Sugiyama K.

Am J Ophthalmol. 2005 Jan;139(1):203-5.

PMID:
15652857
3.

Renal coloboma syndrome.

Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, Dufier JL.

Ophthalmology. 2001 Oct;108(10):1912-6.

PMID:
11581073
4.

[Renal-coloboma syndrome].

Asensio Sánchez VM, Corral Azor A, Bartolomé Aragón A, De Paz García M.

Arch Soc Esp Oftalmol. 2002 Nov;77(11):635-8. Spanish.

PMID:
12410411
5.

Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency.

Guerra-Junior G, Spinola-Castro AM, Siviero-Miachon AA, Nogueira RG, Lemos-Marini SH, D'Souza-Li LF, Silva PC, França ES, Soardi FC, Mello MP.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1221-7.

6.

Functional analysis of missense mutations G36A and G51A in PAX6, and PAX6(5a) causing ocular anomalies.

Shukla S, Mishra R.

Exp Eye Res. 2011 Jul;93(1):40-9. doi: 10.1016/j.exer.2011.04.001. Epub 2011 Apr 19.

PMID:
21524647
7.

Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation.

Samimi S, Antignac C, Combe C, Lacombe D, Renaud Rougier MB, Korobelnik JF.

Eur J Ophthalmol. 2008 Jul-Aug;18(4):656-8.

PMID:
18609495
8.

The spectrum of cavitary optic disc anomalies in a family.

Slusher MM, Weaver RG Jr, Greven CM, Mundorf TK, Cashwell LF.

Ophthalmology. 1989 Mar;96(3):342-7.

PMID:
2710526
9.

The systemic and genetic significance of congenital optic disc anomalies.

Jacobs M, Taylor D.

Eye (Lond). 1991;5 ( Pt 4):470-5. Review.

PMID:
1743364
10.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

11.

Evaluation of congenital excavated optic disc anomalies with spectral-domain and swept-source optical coherence tomography.

Lee KM, Woo SJ, Hwang JM.

Graefes Arch Clin Exp Ophthalmol. 2014 Nov;252(11):1853-60. doi: 10.1007/s00417-014-2680-9. Epub 2014 Jun 7.

PMID:
24906342
12.

Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M.

Am J Hum Genet. 2003 Jun;72(6):1565-70. Epub 2003 Apr 29.

13.

Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203.

Riise R, D'haene B, De Baere E, Grønskov K, Brøndum-Nielsen K.

Acta Ophthalmol. 2009 Nov;87(8):923. doi: 10.1111/j.1755-3768.2009.01696.x. No abstract available.

14.

Optic disc anomalies and frontonasal dysplasia.

Hodgkins P, Lees M, Lawson J, Reardon W, Leitch J, Thorogood P, Winter RM, Taylor DS.

Br J Ophthalmol. 1998 Mar;82(3):290-3.

15.

Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.

Zhang X, Tong Y, Xu W, Dong B, Yang H, Xu L, Li Y.

Eye (Lond). 2011 Dec;25(12):1581-9. doi: 10.1038/eye.2011.215. Epub 2011 Sep 9.

16.

Ocular abnormalities in mice lacking the immunoglobulin superfamily member Cdo.

Zhang W, Mulieri PJ, Gaio U, Bae GU, Krauss RS, Kang JS.

FEBS J. 2009 Oct;276(20):5998-6010. doi: 10.1111/j.1742-4658.2009.07310.x. Epub 2009 Sep 15. Erratum in: FEBS J. 2009 Dec;276(23)7202.

17.

Congenital disorders of the optic nerve: excavations and hypoplasia.

Dutton GN.

Eye (Lond). 2004 Nov;18(11):1038-48. Review.

PMID:
15534588
18.

Abnormal migration and distribution of neural crest cells in Pax6 heterozygous mutant eye, a model for human eye diseases.

Kanakubo S, Nomura T, Yamamura K, Miyazaki J, Tamai M, Osumi N.

Genes Cells. 2006 Aug;11(8):919-33.

19.

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC.

Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9.

20.

COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis.

Tang K, Xie X, Park JI, Jamrich M, Tsai S, Tsai MJ.

Development. 2010 Mar;137(5):725-34. doi: 10.1242/dev.040568.

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