Warning: The NCBI web site requires JavaScript to function. more...
Generate a file for use with external citation management software.
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.
Khan AO, AlDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H, Salih MA.
Br J Ophthalmol. 2014 Jul;98(7):889-93.
Similar articles
Ophthalmic features of ataxia telangiectasia-like disorder.
Khan AO, Oystreck DT, Koenig M, Salih MA.
J AAPOS. 2008 Apr;12(2):186-9. Epub 2007 Dec 21.
Ophthalmic features of Joubert syndrome.
Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA.
Ophthalmology. 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005.
Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.
Abu-Amero KK, Kondkar AA, Salih MA, Alorainy IA, Khan AO, Oystreck DT, Bosley TM.
Ophthalmic Genet. 2013 Mar-Jun;34(1-2):90-6. doi: 10.3109/13816810.2012.718850. Epub 2012 Sep 6.
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.
Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H.
PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. Erratum in: PLoS One. 2013;8(11). doi:10.1371/annotation/cb01a74a-3330-4412-8040-2a94842420ed.
The relationships among cycloplegic refraction, keratometry, and axial length in children with refractive accommodative esotropia.
Khan AO.
J AAPOS. 2011 Jun;15(3):241-4. doi: 10.1016/j.jaapos.2011.01.157. Epub 2011 Jun 12.
The distinct ophthalmic phenotype of Knobloch syndrome in children.
Khan AO, Aldahmesh MA, Mohamed JY, Al-Mesfer S, Alkuraya FS.
Br J Ophthalmol. 2012 Jun;96(6):890-5. doi: 10.1136/bjophthalmol-2011-301396. Epub 2012 Mar 7.
Molecular characterization of Joubert syndrome in Saudi Arabia.
Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, Hijazi H, Seidahmed MZ, Abu Safieh L, Aldosary M, Khan AO, Alkuraya FS.
Hum Mutat. 2012 Oct;33(10):1423-8. doi: 10.1002/humu.22134. Epub 2012 Jul 11.
Clinical characterisation of the CABP4-related retinal phenotype.
Khan AO, Alrashed M, Alkuraya FS.
Br J Ophthalmol. 2013 Mar;97(3):262-5. doi: 10.1136/bjophthalmol-2012-302186. Epub 2012 Oct 25.
Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS.
Ophthalmology. 2013 May;120(5):956-60. doi: 10.1016/j.ophtha.2012.10.032. Epub 2013 Jan 31.
The RPGRIP1-related retinal phenotype in children.
Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS.
Br J Ophthalmol. 2013 Jun;97(6):760-4. doi: 10.1136/bjophthalmol-2012-303050. Epub 2013 Mar 16. Erratum in: Br J Ophthalmol. 2014 Mar;98(3):420.
Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations.
Khan AO, Bolz HJ.
Ophthalmic Genet. 2015;36(4):349-52. doi: 10.3109/13816810.2014.886266. Epub 2014 Feb 18.
Rod-Cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations.
Khan AO, Abu-Safieh L.
Ophthalmic Genet. 2015;36(4):369-72. doi: 10.3109/13816810.2014.889168. Epub 2014 Feb 19.
Unilateral posterior polymorphous corneal dystrophy associated with ipsilateral anisometropic amblyopia.
Al-Amry M, Khan AO.
J Pediatr Ophthalmol Strabismus. 2013 Oct 29;50 Online:e55-7. doi: 10.3928/01913913-20131022-02.
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.
Khan AO, Al Rashaed S, Neuhaus C, Bergmann C, Bolz HJ.
Br J Ophthalmol. 2016 Feb;100(2):209-15. doi: 10.1136/bjophthalmol-2015-306844. Epub 2015 Jun 10.
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
Bifari IN, Elkhamary SM, Bolz HJ, Khan AO.
Br J Ophthalmol. 2016 Jun;100(6):829-33. doi: 10.1136/bjophthalmol-2015-307555. Epub 2015 Sep 10.
Recessive cornea plana in the Kingdom of Saudi Arabia.
Khan AO, Aldahmesh M, Meyer B.
Ophthalmology. 2006 Oct;113(10):1773-8.
Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu).
Khan AO, Oystreck DT, Al-Tassan N, Al-Sharif L, Bosley TM.
Ophthalmology. 2008 Dec;115(12):2262-5. doi: 10.1016/j.ophtha.2008.08.010.
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.
Khan AO, Khalil DS, Al Sharif LJ, Al-Ghadhfan FE, Al Tassan NA.
Ophthalmology. 2010 Jan;117(1):154-8. doi: 10.1016/j.ophtha.2009.06.029. Epub 2009 Nov 5.
'Cone dystrophy with supranormal rod response' in children.
Br J Ophthalmol. 2012 Mar;96(3):422-6. doi: 10.1136/bjophthalmol-2011-300271. Epub 2011 Sep 6.
Filters: Manage Filters