Maconachie GDE - Search Results

1

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Among authors: maconachie gde. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.

2

Diagnostic potential of iris cross-sectional imaging in albinism using optical coherence tomography.

Sheth V, Gottlob I, Mohammad S, McLean RJ, Maconachie GD, Kumar A, Degg C, Proudlock FA. Sheth V, et al. Ophthalmology. 2013 Oct;120(10):2082-90. doi: 10.1016/j.ophtha.2013.03.018. Epub 2013 May 29. Ophthalmology. 2013. PMID: 23725737

3

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant.

Thomas MG, Maconachie GDE, Constantinescu CS, Chan WM, Barry B, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S, Engle EC, Gottlob I. Thomas MG, et al. Among authors: maconachie gde. Br J Ophthalmol. 2020 Apr;104(4):547-550. doi: 10.1136/bjophthalmol-2019-314293. Epub 2019 Jul 13. Br J Ophthalmol. 2020. PMID: 31302631 Free PMC article.

4

Current and emerging treatments for albinism.

Liu S, Kuht HJ, Moon EH, Maconachie GDE, Thomas MG. Liu S, et al. Among authors: maconachie gde. Surv Ophthalmol. 2021 Mar-Apr;66(2):362-377. doi: 10.1016/j.survophthal.2020.10.007. Epub 2020 Oct 29. Surv Ophthalmol. 2021. PMID: 33129801 Review.

5

Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.

Thomas MG, Maconachie G, Sheth V, McLean RJ, Gottlob I. Thomas MG, et al. Eur J Hum Genet. 2017 Jun;25(6):725-734. doi: 10.1038/ejhg.2017.44. Epub 2017 Apr 5. Eur J Hum Genet. 2017. PMID: 28378818 Free PMC article.

6

Risk factors and genetics in common comitant strabismus: a systematic review of the literature.

Maconachie GD, Gottlob I, McLean RJ. Maconachie GD, et al. JAMA Ophthalmol. 2013 Sep;131(9):1179-86. doi: 10.1001/jamaophthalmol.2013.4001. JAMA Ophthalmol. 2013. PMID: 23846622 Review.

7

The Development of a Nystagmus-Specific Quality-of-Life Questionnaire.

McLean RJ, Maconachie GD, Gottlob I, Maltby J. McLean RJ, et al. Ophthalmology. 2016 Sep;123(9):2023-7. doi: 10.1016/j.ophtha.2016.05.033. Epub 2016 Jun 28. Ophthalmology. 2016. PMID: 27365177

8

Association Between Adherence to Glasses Wearing During Amblyopia Treatment and Improvement in Visual Acuity.

Maconachie GD, Farooq S, Bush G, Kempton J, Proudlock FA, Gottlob I. Maconachie GD, et al. JAMA Ophthalmol. 2016 Dec 1;134(12):1347-1353. doi: 10.1001/jamaophthalmol.2016.3793. JAMA Ophthalmol. 2016. PMID: 27737444

9

In Vivo Morphology of the Optic Nerve and Retina in Patients With Parkinson's Disease.

Pilat A, McLean RJ, Proudlock FA, Maconachie GD, Sheth V, Rajabally YA, Gottlob I. Pilat A, et al. Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4420-4427. doi: 10.1167/iovs.16-20020. Invest Ophthalmol Vis Sci. 2016. PMID: 27750285

10

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.

Kuht HJ, Han J, Maconachie GDE, Park SE, Lee ST, McLean R, Sheth V, Hisaund M, Dawar B, Sylvius N, Mahmood U, Proudlock FA, Gottlob I, Lim HT, Thomas MG. Kuht HJ, et al. Among authors: maconachie gde. Hum Mol Genet. 2020 Nov 4;29(18):2989-3002. doi: 10.1093/hmg/ddaa166. Hum Mol Genet. 2020. PMID: 32744312 Free PMC article.

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