PMC Articles for MedGen (Select 355864) - PMC

Abraham A. Mascio, Alejandro J. Roman, Artur V. Cideciyan, Rebecca Sheplock, Vivian Wu, Alexandra V. Garafalo, Alexander Sumaroka, Sydney Pirkle, Susanne Kohl, Bernd Wissinger, Samuel G. Jacobson, John L. Barbur

Transl Vis Sci Technol. 2023 Jan; 12(1): 25. Published online 2023 Jan 24. doi: 10.1167/tvst.12.1.25

PMCID:: PMC9896867

Article PDF–3.1M

Select item 97895265.

Quantitative and Qualitative Characterization of Retinal Dystrophies in Canine Models of Inherited Retinal Diseases Using Spectral Domain Optical Coherence Tomography (SD-OCT)

Shin Ae Park, Jamie Rhodes, Simone Iwabe, Gui-Shuang Ying, Wei Pan, Jiayan Huang, András M. Komáromy

Exp Eye Res. Author manuscript; available in PMC 2023 Jul 1.

Published in final edited form as: Exp Eye Res. 2022 Jul; 220: 109106. Published online 2022 May 16. doi: 10.1016/j.exer.2022.109106

PMCID:: PMC9789526

Article PDF–2.0M

Select item 96242646.

Foveal Cone Structure in Patients With Blue Cone Monochromacy

Emily J. Patterson, Angelos Kalitzeos, Thomas M. Kane, Navjit Singh, Joseph Kreis, Mark E. Pennesi, Alison J. Hardcastle, Jay Neitz, Maureen Neitz, Michel Michaelides, Joseph Carroll

Invest Ophthalmol Vis Sci. 2022 Oct; 63(11): 23. Published online 2022 Oct 27. doi: 10.1167/iovs.63.11.23

PMCID:: PMC9624264

Article PDF–1.7M

Select item 95801607.

Susceptibility of TNFAIP8, TNFAIP8L1, and TNFAIP2 Gene Polymorphisms on Cancer Risk: A Comprehensive Review and Meta-Analysis of Case–Control Studies

Khokon Kanti Bhowmik, Md Abdul Barek, Md. Abdul Aziz, Mohammad Safiqul Islam

Technol Cancer Res Treat. 2022; 21: 15330338221123109. Published online 2022 Oct 18. doi: 10.1177/15330338221123109

PMCID:: PMC9580160

Article PDF–7.3M

Select item 93636768.

Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia

Magdalini Triantafylla, Eleni Papageorgiou, Mervyn G. Thomas, Rebecca McLean, Susanne Kohl, Viral Sheth, Zhanhan Tu, Frank A. Proudlock, Irene Gottlob

Invest Ophthalmol Vis Sci. 2022 Aug; 63(9): 6. Published online 2022 Aug 5. doi: 10.1167/iovs.63.9.6

PMCID:: PMC9363676

Article PDF–1.8M

Select item 93412409.

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study

Helen J Kuht, Gail DE Maconachie, Jinu Han, Line Kessel, Maria M van Genderen, Rebecca J McLean, Michael Hisaund, Zhanhan Tu, Richard W Hertle, Karen Gronskov, Dayong Bai, Aihua Wei, Wei Li, Yonghong Jiao, Vasily Smirnov, Jae-Hwan Choi, Martin D Tobin, Viral Sheth, Ravi Purohit, Basu Dawar, Ayesha Girach, Sasha Strul, Laura May, Fred K Chen, Rachael C Heath Jeffery, Abdullah Aamir, Ronaldo Sano, Jing Jin, Brian P Brooks, Susanne Kohl, Benoit Arveiler, Lluis Montoliu, Elizabeth C Engle, Frank A Proudlock, Garima Nishad, Prateek Pani, Girish Varma, Irene Gottlob, Mervyn G Thomas

Ophthalmology. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Ophthalmology. 2022 Jun; 129(6): 708–718. Published online 2022 Feb 11. doi: 10.1016/j.ophtha.2022.02.010

PMCID:: PMC9341240

Article PDF–816K

Select item 920639310.

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

Katie M. Williams, Michalis Georgiou, Angelos Kalitzeos, Isabelle Chow, Pirro G. Hysi, Anthony G. Robson, Gareth Lingham, Fred K. Chen, David A. Mackey, Andrew R. Webster, Christopher J. Hammond, Polina Prokhoda, Joseph Carroll, Michel Michaelides, Omar A. Mahroo

Invest Ophthalmol Vis Sci. 2022 Jun; 63(6): 15. Published online 2022 Jun 15. doi: 10.1167/iovs.63.6.15

PMCID:: PMC9206393

Article PDF–2.0M

Select item 903312511.

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

Julia Zhu, Kirk A. J. Stephenson, Adrian Dockery, Jacqueline Turner, James J. O’Byrne, Susan Fitzsimon, G. Jane Farrar, D. Ian Flitcroft, David J. Keegan

Genes (Basel) 2022 Apr; 13(4): 615. Published online 2022 Mar 29. doi: 10.3390/genes13040615

PMCID:: PMC9033125

Article PDF–620K

Select item 868363812.

Panel‐based genetic testing for inherited retinal disease screening 176 genes

Leo H. N. Sheck, Simona D. Esposti, Omar A. Mahroo, Gavin Arno, Nikolas Pontikos, Genevieve Wright, Andrew R. Webster, Kamron N. Khan, Michel Michaelides

Mol Genet Genomic Med. 2021 Dec; 9(12): e1663. Published online 2021 Mar 22. doi: 10.1002/mgg3.1663

PMCID:: PMC8683638

Article PDF–511K

Select item 851721213.

Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase

Igor V. Peshenko, Elena V. Olshevskaya, Alexander M. Dizhoor

J Biol Chem. 2021 Oct; 297(4): 101201. Published online 2021 Sep 16. doi: 10.1016/j.jbc.2021.101201

PMCID:: PMC8517212

Article PDF–4.7M

Select item 848863214.

ATF6 is essential for human cone photoreceptor development

Heike Kroeger, Julia M. D. Grandjean, Wei-Chieh Jerry Chiang, Daphne D. Bindels, Rebecca Mastey, Jennifer Okalova, Amanda Nguyen, Evan T. Powers, Jeffery W. Kelly, Neil J. Grimsey, Michel Michaelides, Joseph Carroll, R. Luke Wiseman, Jonathan H. Lin

Proc Natl Acad Sci U S A. 2021 Sep 28; 118(39): e2103196118. Published online 2021 Sep 24. doi: 10.1073/pnas.2103196118

PMCID:: PMC8488632

Article PDF–2.6M

Select item 847798715.

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients

Hamzah Aweidah, Manar Salameh, Claudia Yahalom, Anat Blumenfeld, Michal Macarov, Nicole Weisschuh, Susanne Kohl, Eyal Banin, Dror Sharon

Mol Vis. 2021; 27: 588–600. Published online 2021 Sep 22.

PMCID:: PMC8477987

Article PDF–1.0M

Select item 829122116.

Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy

Jin Kyun Oh, Joseph Ryu, Jose Ronaldo Lima de Carvalho, Jr, Sarah R. Levi, Winston Lee, Emmanouil Tsamis, Vivienne C. Greenstein, Vinit B. Mahajan, Rando Allikmets, Stephen H. Tsang

Am J Ophthalmol. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Am J Ophthalmol. 2020 Oct; 218: 40–53. Published online 2020 May 21. doi: 10.1016/j.ajo.2020.05.016

PMCID:: PMC8291221

Article PDF–1.8M

Select item 818673017.

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Shaun M. Leo, Ajoy Vincent, Fadi Nasser, Thales Antônio Cabral De Guimarães, Samer Khateb, Nikolas Pontikos, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Mauricio E. Vargas, Alberta A.H.J. Thiadens, Emanuel R. de Carvalho, Xuan-Thanh-An Nguyen, Gavin Arno, Omar A. Mahroo, Maria Inmaculada Martin-Merida, Belen Jimenez-Rolando, Gema Gordo, Ester Carreño, Ayuso Carmen, Dror Sharon, Susanne Kohl, Rachel M. Huckfeldt, Bernd Wissinger, Camiel J.F. Boon, Eyal Banin, Mark E. Pennesi, Arif O. Khan, Andrew R. Webster, Eberhart Zrenner, Elise Héon, Michel Michaelides

Am J Ophthalmol. 2021 May; 225: 95–107. doi: 10.1016/j.ajo.2020.11.022

PMCID:: PMC8186730

Article PDF–1.6M

Select item 814270418.

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy

Tyler A. Pfister, Wadih M. Zein, Catherine A. Cukras, Hatice N. Sen, Ramiro S. Maldonado, Laryssa A. Huryn, Robert B. Hufnagel

Invest Ophthalmol Vis Sci. 2021 May; 62(6): 22. Published online 2021 May 20. doi: 10.1167/iovs.62.6.22

PMCID:: PMC8142704

Article PDF–3.2M

Select item 813200119.

Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure

Katie M. Litts, Erica N. Woertz, Niamh Wynne, Brian P. Brooks, Alicia Chacon, Thomas B. Connor, Jr., Deborah Costakos, Alina Dumitrescu, Arlene V. Drack, Gerald A. Fishman, William W. Hauswirth, Christine N. Kay, Byron L. Lam, Michel Michaelides, Mark E. Pennesi, Kimberly E. Stepien, Sasha Strul, C. Gail Summers, Joseph Carroll

Transl Vis Sci Technol. 2021 May; 10(6): 22. Published online 2021 May 17. doi: 10.1167/tvst.10.6.22

PMCID:: PMC8132001

Article PDF–1.6M

Select item 791454720.

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study

Raffaella Brunetti-Pierri, Marianthi Karali, Paolo Melillo, Valentina Di Iorio, Antonella De Benedictis, Gennarfrancesco Iaccarino, Francesco Testa, Sandro Banfi, Francesca Simonelli

Int J Mol Sci. 2021 Feb; 22(4): 1681. Published online 2021 Feb 7. doi: 10.3390/ijms22041681

PMCID:: PMC7914547

Article PDF–2.0M

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