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Items: 1 to 20 of 275

1.

Error occurred: cannot get document summary

PMID:
24250758

2.

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.

3.

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. 2017 Nov 8. doi: 10.1007/s00204-017-2106-7. [Epub ahead of print]

PMID:
29119250
4.

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.

5.

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
6.

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
7.

Fundus autofluorescence imaging in hereditary retinal diseases.

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

Acta Ophthalmol. 2017 Nov 2. doi: 10.1111/aos.13602. [Epub ahead of print] Review.

PMID:
29098804
8.

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.

9.

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
10.

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.

11.

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
12.

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.

13.

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
14.

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.

PMID:
28625504
15.

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
16.

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.

17.

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.

18.

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
19.

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
20.

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.

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