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Items: 1 to 20 of 176

1.

NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME.

Kozak I, Oystreck DT, Abu-Amero KK, Nowilaty SR, Alkhalidi H, Elkhamary SM, Mohamed S, Hamad MH, Salih MA, Blakely EL, Taylor RW, Bosley TM.

Retin Cases Brief Rep. 2016 Dec 19. doi: 10.1097/ICB.0000000000000503. [Epub ahead of print]

PMID:
28296806
2.

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW.

Nat Genet. 2017 Apr;49(4):606-612. doi: 10.1038/ng.3804. Epub 2017 Feb 27.

3.

Clinicopathological features of peripheral nerve sheath tumors involving the eye and ocular adnexa.

Zhang ML, Suarez MJ, Bosley TM, Rodriguez FJ.

Hum Pathol. 2017 May;63:70-78. doi: 10.1016/j.humpath.2017.02.006. Epub 2017 Feb 22.

PMID:
28235631
4.

Relative Frequencies of Arteritic and Nonarteritic Anterior Ischemic Optic Neuropathy in an Arab Population.

Gruener AM, Chang JR, Bosley TM, Al-Sadah ZM, Kum C, McCulley TJ.

J Neuroophthalmol. 2017 Dec;37(4):382-385. doi: 10.1097/WNO.0000000000000491.

PMID:
28099197
5.

Central Retinal Vein Occlusion in a Childhood Optic Nerve Tumour.

Kozak I, Elkhamary SM, Bosley TM.

Neuroophthalmology. 2016 Jan 19;40(1):35-39. eCollection 2016 Feb.

6.

The genetics of nonsyndromic bilateral Duane retraction syndrome.

Abu-Amero KK, Khan AO, Oystreck DT, Kondkar AA, Bosley TM.

J AAPOS. 2016 Oct;20(5):396-400.e2. doi: 10.1016/j.jaapos.2016.06.008. Epub 2016 Sep 20.

PMID:
27658539
7.

Coats-like retinopathy in Joubert syndrome.

Abouammoh MA, Al-Shibani SK, Alhawwas A, Bosley TM.

J AAPOS. 2016 Aug;20(4):372-4. doi: 10.1016/j.jaapos.2016.03.018. Epub 2016 Jul 1.

PMID:
27373441
8.

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC.

Am J Hum Genet. 2016 Jun 2;98(6):1220-1227. doi: 10.1016/j.ajhg.2016.03.023. Epub 2016 May 12.

9.

Duane Retraction Syndrome Associated with a Small X Chromosome Deletion.

Abu-Amero KK, Kondkar AA, Odan HA, Khan AO, Oystreck DT, Bosley TM.

Can J Neurol Sci. 2016 May;43(3):445-7. doi: 10.1017/cjn.2015.358. Epub 2016 Jan 25. No abstract available.

PMID:
26891113
10.

Duane retraction syndrome in a patient with Duchenne muscular dystrophy.

Bosley TM, Salih MA, Alkhalidi H, Oystreck DT, El Khashab HY, Kondkar AA, Abu-Amero KK.

Ophthalmic Genet. 2016 Sep;37(3):276-80. doi: 10.3109/13816810.2015.1039139. Epub 2016 Feb 5.

PMID:
26849454
11.

Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder.

Abu-Amero KK, Kondkar AA, Hellani AM, Bosley TM, Khan AO.

Neurosciences (Riyadh). 2016 Jan;21(1):72-4. doi: 10.17712/nsj.2016.1.20150098. No abstract available.

12.

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Salih MA, Seidahmed MZ, El Khashab HY, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC.

Tremor Other Hyperkinet Mov (N Y). 2015 Jul 9;5:306. doi: 10.7916/D8D21WQ0. eCollection 2015.

13.

Visual and neurologic sequelae of methanol poisoning in Saudi Arabia.

Galvez-Ruiz A, Elkhamary SM, Asghar N, Bosley TM.

Saudi Med J. 2015 May;36(5):568-74. doi: 10.15537/smj.2015.5.11142.

14.

Cupping of the optic disk after methanol poisoning.

Galvez-Ruiz A, Elkhamary SM, Asghar N, Bosley TM.

Br J Ophthalmol. 2015 Sep;99(9):1220-3. doi: 10.1136/bjophthalmol-2014-306354. Epub 2015 Mar 16.

PMID:
25777817
15.

Ocular motility abnormalities in orbitofacial neurofibromatosis type 1.

Oystreck DT, Alorainy IA, Morales J, Chaudhry IA, Elkhamary SM, Bosley TM.

J AAPOS. 2014 Aug;18(4):338-43. doi: 10.1016/j.jaapos.2014.02.018.

PMID:
25173895
16.

HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness.

Abu-Amero KK, Hagr Aa, Almomani MO, Azad TA, Alorainy IA, Oystreck DT, Bosley TM.

Can J Neurol Sci. 2014 Jul;41(4):448-51.

PMID:
24878468
17.

Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome.

Abu-Amero KK, Kondkar AA, Oystreck DT, Khan AO, Bosley TM.

Ophthalmic Genet. 2014 Sep;35(3):162-9. doi: 10.3109/13816810.2014.921317. Epub 2014 May 27.

PMID:
24865192
18.

CCDD Phenotype Associated with a Small Chromosome 2 Deletion.

Abu-Amero KK, Bosley TM, Kondkar AA, Oystreck DT, Khan AO.

Semin Ophthalmol. 2015;30(5-6):435-42. doi: 10.3109/08820538.2013.874474. Epub 2014 Jan 29.

PMID:
24475916
19.

Neurologic injury in isolated sulfite oxidase deficiency.

Bosley TM, Alorainy IA, Oystreck DT, Hellani AM, Seidahmed MZ, Osman Mel F, Sabry MA, Rashed MS, Al-Yamani EA, Abu-Amero KK, Salih MA.

Can J Neurol Sci. 2014 Jan;41(1):42-8.

PMID:
24384336
20.

Retrospective review of visual outcome in operated lens subluxation.

Alzuhairy SA, Bosley TM, Alotaibi AG.

Saudi Med J. 2013 Oct;34(10):1030-4. Review.

PMID:
24145937

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