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Items: 1 to 50 of 63

1.

Hyperreflective Vitreous Opacities on Optical Coherence Tomography in a Patient With Bilateral Retinoblastoma.

Finn AP, House RJ, Hsu ST, Thomas AS, El-Dairi MA, Freedman S, Materin MA, Vajzovic L.

Ophthalmic Surg Lasers Imaging Retina. 2019 Jan 1;50(1):50-52. doi: 10.3928/23258160-20181212-08.

PMID:
30640396
2.

Anti-Myelin Oligodendrocyte Glycoprotein Optic Neuritis or Neuroretinitis?

Lee AR, El-Dairi MA.

JAMA Ophthalmol. 2018 Oct 1;136(10):e182928. doi: 10.1001/jamaophthalmol.2018.2928. Epub 2018 Oct 11. No abstract available.

PMID:
30326075
3.

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

Slone J, Peng Y, Chamberlin A, Harris B, Kaylor J, McDonald MT, Lemmon M, El-Dairi MA, Tchapyjnikov D, Gonzalez-Krellwitz LA, Sellars EA, McConkie-Rosell A, Reinholdt LG, Huang T.

J Hum Genet. 2018 Dec;63(12):1211-1222. doi: 10.1038/s10038-018-0515-y. Epub 2018 Sep 25.

PMID:
30250212
4.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. No abstract available.

5.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

6.

Reply.

Thompson AC, El-Dairi MA.

J AAPOS. 2018 Jun;22(3):248-249. doi: 10.1016/j.jaapos.2018.03.003. Epub 2018 Apr 7. No abstract available.

PMID:
29635035
7.

Diagnosis and Management of Pediatric Orbital Diseases.

Mali YP, El-Dairi M.

Int Ophthalmol Clin. 2018 Spring;58(2):111-136. doi: 10.1097/IIO.0000000000000225. Review. No abstract available.

PMID:
29517648
8.

Temporary Lumbar Drain as Treatment for Pediatric Fulminant Idiopathic Intracranial Hypertension: Response.

El-Dairi MA, Bhatti MT.

J Neuroophthalmol. 2018 Mar;38(1):122-123. doi: 10.1097/WNO.0000000000000606. No abstract available.

PMID:
29240577
9.

Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema.

Thompson AC, Bhatti MT, El-Dairi MA.

J AAPOS. 2018 Feb;22(1):38-43.e3. doi: 10.1016/j.jaapos.2017.09.003. Epub 2017 Dec 1.

PMID:
29203329
10.

LONGITUDINAL CHANGES IN THE OPTIC NERVE HEAD AND RETINA OVER TIME IN VERY YOUNG CHILDREN WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.

Lee J, El-Dairi MA, Tran-Viet D, Mangalesh S, Dandridge A, Jiramongkolchai K, Viehland C, Toth CA.

Retina. 2019 Jan;39(1):98-110. doi: 10.1097/IAE.0000000000001930.

PMID:
29190238
11.

A 71-year-old man with bilateral vision loss.

Liu KC, Rosdahl JA, El-Dairi MA.

Digit J Ophthalmol. 2017 Sep 3;23(3):85-87. doi: 10.5693/djo.03.2017.03.002. eCollection 2017. No abstract available.

12.

Emerging Applications of Optical Coherence Tomography in Pediatric Optic Neuropathies.

Gospe SM, Bhatti MT, El-Dairi MA.

Semin Pediatr Neurol. 2017 May;24(2):135-142. doi: 10.1016/j.spen.2017.04.008. Epub 2017 Apr 10. Review.

PMID:
28941529
13.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members, Goldstein DB, Shashi V.

Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14.

14.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CTRM, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004. No abstract available.

15.

Temporary Lumbar Drain as Treatment for Pediatric Fulminant Idiopathic Intracranial Hypertension.

Jiramongkolchai K, Buckley EG, Bhatti MT, Muh CR, Wiggins RE, Jiramongkolchai P, El-Dairi MA.

J Neuroophthalmol. 2017 Jun;37(2):126-132. doi: 10.1097/WNO.0000000000000457.

PMID:
27787461
16.

Swelling Superimposed on Atrophy Masks Optic Nerve Pathology.

Bleicher ID, El-Dairi MA.

J Pediatr. 2017 Jan;180:285-285.e1. doi: 10.1016/j.jpeds.2016.09.046. Epub 2016 Oct 14. No abstract available.

PMID:
27751520
17.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2017 Jan 5;100(1):179.

18.

Endodermal Cyst of the Third Nerve in a Child.

Jiramongkolchai K, Bhatti MT, Fuchs HE, Cummings TE, Jiramongkolchai P, El-Dairi MA.

J Neuroophthalmol. 2017 Sep;37(3):311-313. doi: 10.1097/WNO.0000000000000443.

PMID:
27548636
19.

Nonglaucomatous Cupping: Fundus Photography and Spectral Domain Optical Coherence Tomography Imaging Features.

Aboobakar IF, Mettu P, El-Dairi MA.

J Neuroophthalmol. 2016 Dec;36(4):402-403.

PMID:
27468120
20.

The macula in pediatric glaucoma: quantifying the inner and outer layers via optical coherence tomography automatic segmentation.

Silverstein E, Freedman S, Zéhil GP, Jiramongkolchai K, El-Dairi M.

J AAPOS. 2016 Aug;20(4):332-6. doi: 10.1016/j.jaapos.2016.05.013. Epub 2016 Jul 2.

PMID:
27381526
21.

"Diagnostic Algorithm for Patients With Suspected Giant Cell Arteritis" Useful, but No Substitute for Thorough Histopathology: Response.

Tariq Bhatti M, El-Dairi MA, Cummings TJ, Proia AD.

J Neuroophthalmol. 2016 Sep;36(3):343-4. doi: 10.1097/WNO.0000000000000393. No abstract available.

PMID:
27227465
22.

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.

Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000265. doi: 10.1101/mcs.a000265.

23.

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.

Petrovski S, Shashi V, Petrou S, Schoch K, McSweeney KM, Dhindsa RS, Krueger B, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000257. doi: 10.1101/mcs.a000257.

24.

Diagnostic Algorithm for Suspected Giant Cell Arteritis: Response.

Bhatti MT, El-Dairi MA, Cummings TJ, Proia AD.

J Neuroophthalmol. 2016 Jun;36(2):225-7. doi: 10.1097/WNO.0000000000000367. No abstract available.

PMID:
27058311
25.

Formation of Macular Inner Nuclear Layer Cysts in Optic Atrophy.

Jiramongkolchai K, Bhatti MT, Proia A, Freedman SF, El-Dairi MA.

Invest Ophthalmol Vis Sci. 2016 Mar;57(3):989-91. doi: 10.1167/iovs.15-18814. No abstract available.

PMID:
26962695
26.

Orbito-Masticatory Syndrome.

Mettu P, Bhatti MT, El-Dairi MA, Price EB, Lin AY, Alaraj A, Setabutr P, Moss HE.

J Neuroophthalmol. 2016 Sep;36(3):308-12. doi: 10.1097/WNO.0000000000000354.

27.

The incidence of neovascular membranes and visual field defects from optic nerve head drusen in children.

Duncan JE, Freedman SF, El-Dairi MA.

J AAPOS. 2016 Feb;20(1):44-8. doi: 10.1016/j.jaapos.2015.10.013.

PMID:
26917071
28.

Retinal Changes in Pediatric Glaucoma and Nonglaucomatous Optic Atrophy.

Jiramongkolchai K, Freedman SF, El-Dairi MA.

Am J Ophthalmol. 2016 Jan;161:188-95.e1. doi: 10.1016/j.ajo.2015.10.013. Epub 2015 Oct 21.

PMID:
26498891
29.

The application of optical coherence tomography in neurologic diseases.

Maldonado RS, Mettu P, El-Dairi M, Bhatti MT.

Neurol Clin Pract. 2015 Oct;5(5):460-469. doi: 10.1212/CPJ.0000000000000187.

30.

Thinner Retinal Nerve Fiber Layer in Very Preterm Versus Term Infants and Relationship to Brain Anatomy and Neurodevelopment.

Rothman AL, Sevilla MB, Mangalesh S, Gustafson KE, Edwards L, Cotten CM, Shimony JS, Pizoli CE, El-Dairi MA, Freedman SF, Toth CA.

Am J Ophthalmol. 2015 Dec;160(6):1296-1308.e2. doi: 10.1016/j.ajo.2015.09.015. Epub 2015 Sep 18.

31.

Anatomic and visual function outcomes in paediatric idiopathic intracranial hypertension.

Gospe SM 3rd, Bhatti MT, El-Dairi MA.

Br J Ophthalmol. 2016 Apr;100(4):505-9. doi: 10.1136/bjophthalmol-2015-307043. Epub 2015 Aug 12.

PMID:
26269534
32.

Optic Nerve Head Pit With Sectoral Inner Retinal Hypoplasia: A Bottomless Pit.

Aboobakar IF, Mettu P, El-Dairi MA.

JAMA Ophthalmol. 2015 Jun;133(6):e1572. doi: 10.1001/jamaophthalmol.2015.72. Epub 2015 Jun 11. No abstract available.

PMID:
26067695
33.

Low cerebrospinal fluid protein in prepubertal children with idiopathic intracranial hypertension.

Margeta MA, Buckley EG, El-Dairi MA.

J AAPOS. 2015 Apr;19(2):135-9. doi: 10.1016/j.jaapos.2015.01.006. Epub 2015 Mar 28.

PMID:
25828820
34.

Diagnostic Algorithm for Patients With Suspected Giant Cell Arteritis.

El-Dairi MA, Chang L, Proia AD, Cummings TJ, Stinnett SS, Bhatti MT.

J Neuroophthalmol. 2015 Sep;35(3):246-53. doi: 10.1097/WNO.0000000000000234.

PMID:
25802967
35.

Retinal atrophy in eyes with resolved papilledema detected by optical coherence tomography.

Goldhagen BE, Bhatti MT, Srinivasan PP, Chiu SJ, Farsiu S, El-Dairi MA.

J Neuroophthalmol. 2015 Jun;35(2):122-6. doi: 10.1097/WNO.0000000000000210.

PMID:
25742060
36.

Assessment of retinal nerve fiber layer thickness in healthy, full-term neonates.

Rothman AL, Sevilla MB, Freedman SF, Tong AY, Tai V, Tran-Viet D, Farsiu S, Toth CA, El-Dairi MA.

Am J Ophthalmol. 2015 Apr;159(4):803-11. doi: 10.1016/j.ajo.2015.01.017. Epub 2015 Jan 26.

37.

Interocular symmetry in macular choroidal thickness in children.

Al-Haddad C, El Chaar L, Antonios R, El-Dairi M, Noureddin B.

J Ophthalmol. 2014;2014:472391. doi: 10.1155/2014/472391. Epub 2014 Nov 24.

38.

Incidence of fovea plana in normal children.

Noval S, Freedman SF, Asrani S, El-Dairi MA.

J AAPOS. 2014 Oct;18(5):471-5. doi: 10.1016/j.jaapos.2014.07.157. Epub 2014 Sep 27.

PMID:
25266830
39.

Microcystic Macular Changes in Primary Open-angle Glaucoma.

Wen JC, Freedman SF, El-Dairi MA, Asrani S.

J Glaucoma. 2016 Mar;25(3):258-62. doi: 10.1097/IJG.0000000000000129.

PMID:
25265005
40.

Cupping reversal in pediatric glaucoma--evaluation of the retinal nerve fiber layer and visual field.

Ely AL, El-Dairi MA, Freedman SF.

Am J Ophthalmol. 2014 Nov;158(5):905-15. doi: 10.1016/j.ajo.2014.07.030. Epub 2014 Jul 25.

PMID:
25068638
41.

Evaluation of optic nerve development in preterm and term infants using handheld spectral-domain optical coherence tomography.

Tong AY, El-Dairi M, Maldonado RS, Rothman AL, Yuan EL, Stinnett SS, Kupper L, Cotten CM, Gustafson KE, Goldstein RF, Freedman SF, Toth CA.

Ophthalmology. 2014 Sep;121(9):1818-26. doi: 10.1016/j.ophtha.2014.03.020. Epub 2014 May 6.

42.

Optical coherence tomography in the management of congenital glaucoma.

El-Dairi M.

Br J Ophthalmol. 2014 Feb;98(2):149-50. doi: 10.1136/bjophthalmol-2013-303723. No abstract available.

PMID:
24421299
43.

Racial variation in optic nerve head parameters quantified in healthy newborns by handheld spectral domain optical coherence tomography.

Allingham MJ, Cabrera MT, O'Connell RV, Maldonado RS, Tran-Viet D, Toth CA, Freedman SF, El-Dairi MA.

J AAPOS. 2013 Oct;17(5):501-6. doi: 10.1016/j.jaapos.2013.06.014.

PMID:
24160971
44.

Subacute vision loss in a young, obese female.

Vickers LA, El-Dairi MA.

J Pediatr. 2013 Nov;163(5):1518-9. doi: 10.1016/j.jpeds.2013.06.022. Epub 2013 Jul 25. No abstract available.

PMID:
23891348
45.

Reproducibility of spectral-domain optical coherence tomography measurements in adult and pediatric glaucoma.

Ghasia FF, El-Dairi M, Freedman SF, Rajani A, Asrani S.

J Glaucoma. 2015 Jan;24(1):55-63. doi: 10.1097/IJG.0b013e31829521db.

PMID:
23722865
46.

Correction of ocular shape in retinal optical coherence tomography and effect on current clinical measures.

Kuo AN, McNabb RP, Chiu SJ, El-Dairi MA, Farsiu S, Toth CA, Izatt JA.

Am J Ophthalmol. 2013 Aug;156(2):304-11. doi: 10.1016/j.ajo.2013.03.012. Epub 2013 May 6.

47.

Optical coherence tomography in paediatric glaucoma: time domain versus spectral domain.

Ghasia FF, Freedman SF, Rajani A, Holgado S, Asrani S, El-Dairi M.

Br J Ophthalmol. 2013 Jul;97(7):837-42. doi: 10.1136/bjophthalmol-2012-302648. Epub 2013 Apr 25.

PMID:
23620420
48.

Isolated Horner syndrome and syringomyelia in a child.

Moreno TA, El-Dairi MA, Cabrera MT.

J AAPOS. 2012 Dec;16(6):569-70. doi: 10.1016/j.jaapos.2012.07.009.

PMID:
23237755
49.

Longitudinal reproducibility of optical coherence tomography measurements in children.

Prakalapakorn SG, Freedman SF, Lokhnygina Y, Gandhi NG, Holgado S, Chen BB, El-Dairi MA.

J AAPOS. 2012 Dec;16(6):523-8. doi: 10.1016/j.jaapos.2012.08.011.

50.

Icare ONE rebound versus Goldmann applanation tonometry in children with known or suspected glaucoma.

Gandhi NG, Prakalapakorn SG, El-Dairi MA, Jones SK, Freedman SF.

Am J Ophthalmol. 2012 Nov;154(5):843-849.e1. doi: 10.1016/j.ajo.2012.05.003. Epub 2012 Jul 27.

PMID:
22840485

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