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Items: 1 to 20 of 224

1.

Congenital anomalies of the optic disc: insights from optical coherence tomography imaging.

Jeng-Miller KW, Cestari DM, Gaier ED.

Curr Opin Ophthalmol. 2017 Nov;28(6):579-586. doi: 10.1097/ICU.0000000000000425. Review.

PMID:
28817389
2.

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

Chacon-Camacho OF, Zenker M, Schanze D, Ledesma-Gil J, Zenteno JC.

Eur J Med Genet. 2017 Mar;60(3):190-194. doi: 10.1016/j.ejmg.2017.01.005. Epub 2017 Jan 19. Review.

PMID:
28111185
3.

Congenital optic nerve anomalies.

Martín-Begué N, Saint-Gerons M.

Arch Soc Esp Oftalmol. 2016 Dec;91(12):577-588. doi: 10.1016/j.oftal.2016.05.010. Epub 2016 Jul 1. Review. English, Spanish.

PMID:
27378455
4.

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.

Arunrut T, Sabbadini M, Jain M, Machol K, Scaglia F, Slavotinek A.

Am J Med Genet A. 2016 Oct;170(10):2711-8. doi: 10.1002/ajmg.a.37809. Epub 2016 Jun 20. Review.

PMID:
27320698
5.

State of the Art in Congenital Eyelid Deformity Management.

Lin LK, Martin J.

Facial Plast Surg. 2016 Apr;32(2):142-9. doi: 10.1055/s-0036-1581049. Epub 2016 Apr 20. Review.

PMID:
27097135
6.

CHARGE syndrome and common variable immunodeficiency: A case report and review of literature.

Martire B, Panza R, Pillon M, Delvecchio M.

Pediatr Allergy Immunol. 2016 Aug;27(5):546-50. doi: 10.1111/pai.12574. Epub 2016 May 3. Review. No abstract available.

PMID:
27062223
7.

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

Salter CG, Baralle D, Collinson MN, Self JE.

Am J Med Genet A. 2016 Apr;170A(4):1017-22. doi: 10.1002/ajmg.a.37436. Epub 2016 Jan 15. Review.

PMID:
26773965
8.

Indications and clinical outcomes of capsular tension ring implantation in phacoemulsification surgery at a tertiary teaching hospital: A review of 4316 cataract surgeries.

Celik E, Koklu B, Dogan E, Erdogan G, Alagoz G.

J Fr Ophtalmol. 2015 Dec;38(10):955-9. doi: 10.1016/j.jfo.2015.05.007. Epub 2015 Nov 17. Review.

9.

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.

10.

Neural crest derivatives in ocular development: discerning the eye of the storm.

Williams AL, Bohnsack BL.

Birth Defects Res C Embryo Today. 2015 Jun;105(2):87-95. doi: 10.1002/bdrc.21095. Epub 2015 Jun 4. Review.

11.

Intraorbital Cystic Lesions: An Imaging Spectrum.

Pahwa S, Sharma S, Das CJ, Dhamija E, Agrawal S.

Curr Probl Diagn Radiol. 2015 Sep-Oct;44(5):437-48. doi: 10.1067/j.cpradiol.2015.03.003. Epub 2015 Mar 17. Review.

PMID:
25908230
12.

Syndromic lipomatosis of the head and neck: a review of the literature.

Tadisina KK, Mlynek KS, Hwang LK, Riazi H, Papay FA, Zins JE.

Aesthetic Plast Surg. 2015 Jun;39(3):440-8. doi: 10.1007/s00266-015-0478-8. Epub 2015 Apr 10. Review.

PMID:
25860506
13.

Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.

Tawfik HA, Abdulhafez MH, Fouad YA.

Ophthal Plast Reconstr Surg. 2015 Jan-Feb;31(1):1-12. doi: 10.1097/IOP.0000000000000347. Review.

14.

[Congenital optic disc anomalies--own observations].

Modrzejewska M, Lachowicz E.

Klin Oczna. 2014;116(1):64-9. Review. Polish.

PMID:
25137926
15.

Tectonic gene mutations in patients with Joubert syndrome.

Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C.

Eur J Hum Genet. 2015 May;23(5):616-20. doi: 10.1038/ejhg.2014.160. Epub 2014 Aug 13. Review.

16.

[Routine investigation of foetal eyes--in what way and what for?].

Herwig MC, Löffler KU.

Klin Monbl Augenheilkd. 2014 Jul;231(7):720-8. doi: 10.1055/s-0034-1368665. Epub 2014 Jul 18. Review. German.

PMID:
25036808
17.

The role of homeobox genes in retinal development and disease.

Zagozewski JL, Zhang Q, Pinto VI, Wigle JT, Eisenstat DD.

Dev Biol. 2014 Sep 15;393(2):195-208. doi: 10.1016/j.ydbio.2014.07.004. Epub 2014 Jul 15. Review.

18.

Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies.

Jain N, Johnson MW.

Am J Ophthalmol. 2014 Sep;158(3):423-35. doi: 10.1016/j.ajo.2014.06.001. Epub 2014 Jun 14. Review.

PMID:
24932988
19.

Encephalocraniocutaneous lipomatosis: a case report and review of the literature.

Chandravanshi SL.

Indian J Ophthalmol. 2014 May;62(5):622-7. doi: 10.4103/0301-4738.133521. Review.

20.

COUP-TFs and eye development.

Tang K, Tsai SY, Tsai MJ.

Biochim Biophys Acta. 2015 Feb;1849(2):201-9. doi: 10.1016/j.bbagrm.2014.05.022. Epub 2014 May 27. Review.

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