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Items: 1 to 50 of 304

1.

A recurrent arcuate retinopathy in familial cone-rod dystrophy secondary to heterozygous CRX deletion.

Khan AO, Neri P, Al Teneiji AM.

Ophthalmic Genet. 2019 Nov 19:1-7. doi: 10.1080/13816810.2019.1688841. [Epub ahead of print]

PMID:
31743059
2.

PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.

Khan AO.

Retina. 2019 Nov 8. doi: 10.1097/IAE.0000000000002675. [Epub ahead of print]

PMID:
31725702
3.

Topological data analysis quantifies biological nano-structure from single molecule localization microscopy.

Pike JA, Khan AO, Pallini C, Thomas SG, Mund M, Ries J, Poulter NS, Styles IB.

Bioinformatics. 2019 Oct 18. pii: btz788. doi: 10.1093/bioinformatics/btz788. [Epub ahead of print]

PMID:
31626286
4.

Optimised insert design for improved single-molecule imaging and quantification through CRISPR-Cas9 mediated knock-in.

Khan AO, White CW, Pike JA, Yule J, Slater A, Hill SJ, Poulter NS, Thomas SG, Morgan NV.

Sci Rep. 2019 Oct 2;9(1):14219. doi: 10.1038/s41598-019-50733-9.

5.

Indications for Pediatric Ocular Prosthesis Fitting at a Referral Center in the Middle East.

Al-Dahan D, Khan AO.

Middle East Afr J Ophthalmol. 2019 Aug 26;26(2):107-109. doi: 10.4103/meajo.MEAJO_274_18. eCollection 2019 Apr-Jun.

6.

Considerations in multi-gene panel testing in pediatric ophthalmology.

Khan AO.

J AAPOS. 2019 Sep 14. pii: S1091-8531(19)30483-5. doi: 10.1016/j.jaapos.2019.07.003. [Epub ahead of print] No abstract available.

PMID:
31526856
7.

POSTERIOR LENTICONUS CATARACT AND FYCO1 MUTATIONS.

Khan AO.

J AAPOS. 2019 Sep 13. pii: S1091-8531(19)30482-3. doi: 10.1016/j.jaapos.2019.07.002. [Epub ahead of print] No abstract available.

PMID:
31525464
8.
9.

Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations.

Khan AO, Al Teneiji AM.

Ophthalmic Genet. 2019 Jun;40(3):247-251. doi: 10.1080/13816810.2019.1627467. Epub 2019 Jul 2.

PMID:
31264916
10.

High-throughput platelet spreading analysis: a tool for the diagnosis of platelet- based bleeding disorders.

Khan AO, Maclachlan A, Lowe GC, Nicolson PLR, Al Ghaithi R, Thomas SG, Watson SP, Pike JA, Morgan NV; UK GAPP Study Group.

Haematologica. 2019 Jun 20. pii: haematol.2019.225912. doi: 10.3324/haematol.2019.225912. [Epub ahead of print]

11.

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.

Whitman MC, Miyake N, Nguyen EH, Bell JL, Matos Ruiz PM, Chan WM, Di Gioia SA, Mukherjee N, Barry BJ, Bosley TM, Khan AO, Engle EC.

Hum Mol Genet. 2019 Sep 15;28(18):3113-3125. doi: 10.1093/hmg/ddz137.

PMID:
31211835
12.
13.

Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy.

Khan AO, Basamh O, Alkatan HM.

J AAPOS. 2019 Jun;23(3):176-177. doi: 10.1016/j.jaapos.2019.01.005. Epub 2019 Feb 5.

PMID:
30731125
14.

Further phenotypic characterization of LEPREL1-related ectopia lentis.

Khan AO.

Ophthalmic Genet. 2019 Feb;40(1):80-82. doi: 10.1080/13816810.2018.1563618. Epub 2019 Jan 4. No abstract available.

PMID:
30608193
15.

Overlapping retinal phenotypes in a consanguineous family harboring mutations in CRB1 and RS1.

Khan AO, El-Ghrably IA.

Ophthalmic Genet. 2019 Feb;40(1):17-21. doi: 10.1080/13816810.2018.1561906. Epub 2019 Jan 4.

PMID:
30608181
16.

Retinal venous tortuosity in a woman hemizygous for MBTPS2 mutation.

Khan AO, Al Teneiji AM.

Ophthalmic Genet. 2019 Feb;40(1):69-70. doi: 10.1080/13816810.2018.1558265. Epub 2018 Dec 27. No abstract available.

PMID:
30589367
17.

Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia.

Khan AO, Schatz P.

J AAPOS. 2019 Apr;23(2):101-102. doi: 10.1016/j.jaapos.2018.07.354. Epub 2018 Nov 8.

PMID:
30415012
18.

Single-Molecule Localization and Structured Illumination Microscopy of Platelet Proteins.

Poulter NS, Khan AO, Pallini C, Thomas SG.

Methods Mol Biol. 2018;1812:33-54. doi: 10.1007/978-1-4939-8585-2_3.

PMID:
30171571
19.

TREM-like transcript 1: a more sensitive marker of platelet activation than P-selectin in humans and mice.

Smith CW, Raslan Z, Parfitt L, Khan AO, Patel P, Senis YA, Mazharian A.

Blood Adv. 2018 Aug 28;2(16):2072-2078. doi: 10.1182/bloodadvances.2018017756. No abstract available.

20.

Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.

Khan AO, Patel N, Ghazi NG, Alzahrani SS, Arold ST, Alkuraya FS.

Ophthalmic Genet. 2018 Oct;39(5):577-583. doi: 10.1080/13816810.2018.1498528. Epub 2018 Aug 1.

PMID:
30067419
21.

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Patel N, Alkuraya H, Alzahrani SS, Nowailaty SR, Seidahmed MZ, Alhemidan A, Ben-Omran T, Ghazi NG, Al-Aqeel A, Al-Owain M, Alzaidan HI, Faqeih E, Kurdi W, Rahbeeni Z, Ibrahim N, Abdulwahab F, Hashem M, Shaheen R, Abouelhoda M, Monies D, Khan AO, Aldahmesh MA, Alkuraya FS.

Clin Genet. 2018 Dec;94(6):554-563. doi: 10.1111/cge.13426. Epub 2018 Sep 3.

PMID:
30054919
22.

Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).

Khan AO.

Ophthalmic Genet. 2018 Oct;39(5):628-630. doi: 10.1080/13816810.2018.1498529. Epub 2018 Jul 18.

PMID:
30019980
23.

Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation.

Fletcher SJ, Pisareva VP, Khan AO, Tcherepanov A, Morgan NV, Pisarev AV.

RNA. 2018 Jul;24(7):939-949. doi: 10.1261/rna.066415.118. Epub 2018 Apr 20.

24.

Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations.

Khan AO, Basamh OS.

Ophthalmic Genet. 2018 Aug;39(4):425-427. doi: 10.1080/13816810.2018.1459738. Epub 2018 Apr 19.

PMID:
29671668
25.

Expanding the phenome and variome of skeletal dysplasia.

Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS.

Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5.

PMID:
29620724
26.

Congenital glaucoma and CYP1B1: an old story revisited.

Alsaif HS, Khan AO, Patel N, Alkuraya H, Hashem M, Abdulwahab F, Ibrahim N, Aldahmesh MA, Alkuraya FS.

Hum Genet. 2019 Sep;138(8-9):1043-1049. doi: 10.1007/s00439-018-1878-z. Epub 2018 Mar 19.

PMID:
29556725
27.

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Patel N, Khan AO, Alsahli S, Abdel-Salam G, Nowilaty SR, Mansour AM, Nabil A, Al-Owain M, Sogati S, Salih MA, Kamal AM, Alsharif H, Alsaif HS, Alzahrani SS, Abdulwahab F, Ibrahim N, Hashem M, Faquih T, Shah ZA, Abouelhoda M, Monies D, Dasouki M, Shaheen R, Wakil SM, Aldahmesh MA, Alkuraya FS.

Clin Genet. 2018 Jun;93(6):1210-1222. doi: 10.1111/cge.13239. Epub 2018 Mar 25.

PMID:
29450879
28.

Clinical features of LONP1-related infantile cataract.

Khan AO, AlBakri A.

J AAPOS. 2018 Jun;22(3):229-231. doi: 10.1016/j.jaapos.2017.10.012. Epub 2018 Feb 3.

PMID:
29408517
29.

The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.

Khan AO, Ghazi NG.

Ophthalmic Genet. 2018 Jun;39(3):321-324. doi: 10.1080/13816810.2018.1430245. Epub 2018 Feb 1.

PMID:
29388841
30.

Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy.

Abdalla-Elsayed ME, Schatz P, Neuhaus C, Khan AO.

Mol Vis. 2017 Nov 13;23:778-784. eCollection 2017.

31.

Microscopy-based high-throughput assays enable multi-parametric analysis to assess adverse effects of nanomaterials in various cell lines.

Hansjosten I, Rapp J, Reiner L, Vatter R, Fritsch-Decker S, Peravali R, Palosaari T, Joossens E, Gerloff K, Macko P, Whelan M, Gilliland D, Ojea-Jimenez I, Monopoli MP, Rocks L, Garry D, Dawson K, Röttgermann PJF, Murschhauser A, Rädler JO, Tang SVY, Gooden P, Belinga-Desaunay MA, Khan AO, Briffa S, Guggenheim E, Papadiamantis A, Lynch I, Valsami-Jones E, Diabaté S, Weiss C.

Arch Toxicol. 2018 Feb;92(2):633-649. doi: 10.1007/s00204-017-2106-7. Epub 2017 Nov 8.

PMID:
29119250
32.

A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles.

Abu-Amero KK, Kondkar AA, Khan AO.

BMC Res Notes. 2017 Nov 6;10(1):562. doi: 10.1186/s13104-017-2888-y.

33.

Gustatory lid retraction: an unusual congenital cranial dysinnervation disorder.

Khan AO, Khan Z.

J AAPOS. 2017 Dec;21(6):511-512. doi: 10.1016/j.jaapos.2017.07.214. Epub 2017 Oct 28.

PMID:
29107795
34.

The clinical presentation of bradyopsia in children.

Khan AO.

J AAPOS. 2017 Dec;21(6):507-509.e1. doi: 10.1016/j.jaapos.2017.07.212. Epub 2017 Oct 28.

PMID:
29107794
35.

Fundus autofluorescence imaging in hereditary retinal diseases.

Pichi F, Abboud EB, Ghazi NG, Khan AO.

Acta Ophthalmol. 2018 Aug;96(5):e549-e561. doi: 10.1111/aos.13602. Epub 2017 Nov 2. Review.

36.

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P, Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ.

Mol Genet Genomic Med. 2017 Jul 6;5(5):531-552. doi: 10.1002/mgg3.312. eCollection 2017 Sep.

37.

Outcomes of Ahmed Glaucoma Valve Revision in Pediatric Glaucoma.

Al-Omairi AM, Al Ameri AH, Al-Shahwan S, Khan AO, Al-Jadaan I, Mousa A, Edward DP.

Am J Ophthalmol. 2017 Nov;183:141-146. doi: 10.1016/j.ajo.2017.09.015. Epub 2017 Sep 14.

PMID:
28918060
38.

CRISPR-Cas9 Mediated Labelling Allows for Single Molecule Imaging and Resolution.

Khan AO, Simms VA, Pike JA, Thomas SG, Morgan NV.

Sci Rep. 2017 Aug 16;7(1):8450. doi: 10.1038/s41598-017-08493-x.

39.

Corneal ectasia in a boy with homozygous KERA mutation.

Khan AO.

Ophthalmic Genet. 2018 Jan-Feb;39(1):141-143. doi: 10.1080/13816810.2017.1350724. Epub 2017 Aug 11. No abstract available.

PMID:
28799822
40.

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.

Patel N, Khan AO, Al-Saif M, Moghrabi WN, AlMaarik BM, Ibrahim N, Abdulwahab F, Hashem M, Alshidi T, Alobeid E, Alomar RA, Al-Harbi S, Abouelhoda M, Khabar KSA, Alkuraya FS.

Genome Biol. 2017 Jul 28;18(1):144. doi: 10.1186/s13059-017-1274-3.

41.

Multimodal imaging in CABP4-related retinopathy.

Schatz P, Abdalla Elsayed MEA, Khan AO.

Ophthalmic Genet. 2017 Sep-Oct;38(5):459-464. doi: 10.1080/13816810.2017.1289543. Epub 2017 Mar 1.

PMID:
28635425
42.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D.

Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15.

43.

Magnetic resonance imaging findings in children with spasmus nutans.

Khan AO.

J AAPOS. 2017 Aug;21(4):345. doi: 10.1016/j.jaapos.2017.06.004. Epub 2017 Jun 15. No abstract available.

PMID:
28625470
44.

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

Patel N, Shamseldin HE, Sakati N, Khan AO, Softa A, Al-Fadhli FM, Hashem M, Abdulwahab FM, Alshidi T, Alomar R, Alobeid E, Wakil SM, Colak D, Alkuraya FS.

Am J Hum Genet. 2017 May 4;100(5):831-836. doi: 10.1016/j.ajhg.2017.04.008.

45.

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.

Khan AO, Becirovic E, Betz C, Neuhaus C, Altmüller J, Maria Riedmayr L, Motameny S, Nürnberg G, Nürnberg P, Bolz HJ.

Sci Rep. 2017 May 3;7(1):1411. doi: 10.1038/s41598-017-01577-8.

46.

Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.

Khan AO, Budde BS, Nürnberg P, Kawalia A, Lenzner S, Bolz HJ.

Clin Genet. 2018 Jan;93(1):149-154. doi: 10.1111/cge.13022. Epub 2017 May 9.

PMID:
28369829
47.

Marfan Syndrome: Staging Nonsurgical vs Surgical Treatments in Children With Subluxated Lenses and Refractive Problems.

Paul Chan RV, Khan AO, Levin AV, Paysse EA, DeRespinis PA.

J Pediatr Ophthalmol Strabismus. 2017 Mar 1;54(2):70-73. doi: 10.3928/01913913-20160801-01. No abstract available.

PMID:
28338994
48.

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Irum B, Khan SY, Ali M, Daud M, Kabir F, Rauf B, Fatima F, Iqbal H, Khan AO, Obaisi SA, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA.

PLoS One. 2017 Mar 9;12(3):e0173719. doi: 10.1371/journal.pone.0173719. eCollection 2017.

49.

Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12.

Schatz P, Khan AO.

Acta Ophthalmol. 2017 Nov;95(7):705-709. doi: 10.1111/aos.13411. Epub 2017 Feb 16.

50.

Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

Jiao X, Khan SY, Irum B, Khan AO, Wang Q, Kabir F, Khan AA, Husnain T, Akram J, Riazuddin S, Hejtmancik JF, Riazuddin SA.

PLoS One. 2017 Jan 30;12(1):e0171403. doi: 10.1371/journal.pone.0171403. eCollection 2017.

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