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Select item 105931351.

Refractive Status and Biometric Characteristics of Children With Familial Exudative Vitreoretinopathy

Yarou Hu, Zixin Fan, Xinyu Zhao, Victor S. M. C. Correa, Zhenquan Wu, Xiaofeng Lu, Xianlu Zeng, Laijiao Chen, Zhen Yu, Lei Zheng, Jicang He, Guoming Zhang

Invest Ophthalmol Vis Sci. 2023 Oct; 64(13): 27. Published online 2023 Oct 18. doi: 10.1167/iovs.64.13.27

PMCID:: PMC10593135

Abstract Article PDF–559K

Select item 103413552.

Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study

Zakariya A. Jarrar, Abdus Samad Ansari, Katie M. Williams, Dominic S. Wong, Pirro G. Hysi, Omar A. Mahroo, Christopher J. Hammond

Invest Ophthalmol Vis Sci. 2023 Jul; 64(10): 9. Published online 2023 Jul 10. doi: 10.1167/iovs.64.10.9

PMCID:: PMC10341355

Abstract Article PDF–1.2M

Select item 103289873.

Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse

Mark M. Hassall, Shari Javadiyan, Sonja Klebe, Mona S. Awadalla, Shiwani Sharma, Ayub Qassim, Melissa White, Paul Q. Thomas, Jamie E. Craig, Owen M. Siggs

Sci Rep. 2023; 13: 11017. Published online 2023 Jul 7. doi: 10.1038/s41598-023-37855-x

PMCID:: PMC10328987

Abstract Article PDF–2.0M

Select item 102274014.

Coexistence of MRCS syndrome, extremely long axis and exfoliation syndrome: a case report and literature review

Xinglin Wang, Xiaodan Jiang, Ziyuan Liu, Changguan Wang, Xuemin Li

BMC Ophthalmol. 2023; 23: 241. Published online 2023 May 30. doi: 10.1186/s12886-023-02965-7

PMCID:: PMC10227401

Abstract Article PDF–937K

Select item 85224635.

Genotype-associated cerebellar profiles in ALS: focal cerebellar pathology and cerebro-cerebellar connectivity alterations

Peter Bede, Rangariroyashe H. Chipika, Foteini Christidi, Jennifer C. Hengeveld, Efstratios Karavasilis, Georgios D. Argyropoulos, Jasmin Lope, Stacey Li Hi Shing, Georgios Velonakis, Léonie Dupuis, Mark A. Doherty, Alice Vajda, Russell L. McLaughlin, Orla Hardiman

J Neurol Neurosurg Psychiatry. 2021 Nov; 92(11): 1197–1205. Published online 2021 Jun 24. doi: 10.1136/jnnp-2021-326854

PMCID:: PMC8522463

Abstract Article PDF–1.0M

Select item 82540116.

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

Mariana Matioli da Palma, Austin D. Igelman, Cristy Ku, Amanda Burr, Jia Yue You, Emily M. Place, Nan-Kai Wang, Jin Kyun Oh, Kari E. Branham, Xinxin Zhang, Jeeyun Ahn, Michael B. Gorin, Byron L. Lam, Cecinio C. Ronquillo, Paul S. Bernstein, Aaron Nagiel, Rachel Huckfeldt, Michelle T. Cabrera, John P. Kelly, Benjamin Bakall, Alessandro Iannaccone, Robert B. Hufnagel, Wadih M. Zein, Robert K. Koenekoop, David G. Birch, Paul Yang, Abigail T. Fahim, Mark E. Pennesi

Invest Ophthalmol Vis Sci. 2021 Jun; 62(7): 27. Published online 2021 Jun 29. doi: 10.1167/iovs.62.7.27

PMCID:: PMC8254011

Abstract Article PDF–3.3M

Select item 80086697.

Axenfeld‐Rieger syndrome combined with a foveal anomaly in a three‐generation family: a case report

Kinga Gołaszewska, Natalia Dub, Emil Saeed, Zofia Mariak, Joanna Konopińska

BMC Ophthalmol. 2021; 21: 154. Published online 2021 Mar 29. doi: 10.1186/s12886-021-01899-2

PMCID:: PMC8008669

Abstract Article PDF–3.8M

Select item 76452008.

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

Maria F. Shurygina, Joseph M. Simonett, Maria A. Parker, Amanda Mitchell, Florin Grigorian, Jacob Lifton, Aaron Nagiel, Alexander A. Shpak, Elena L. Dadali, Irina A. Mishina, Richard G. Weleber, Paul Yang, Mark E. Pennesi

Invest Ophthalmol Vis Sci. 2020 Nov; 61(13): 2. Published online 2020 Nov 2. doi: 10.1167/iovs.61.13.2

PMCID:: PMC7645200

Abstract Article PDF–8.0M

Select item 75537199.

A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome

Yayun Qin, Pang Gao, Shanshan Yu, Jingzhen Li, Yuwen Huang, Danna Jia, Zhaohui Tang, Pengcheng Li, Fei Liu, Mugen Liu

Mol Vis. 2020; 26: 670–678. Published online 2020 Oct 4.

PMCID:: PMC7553719

Abstract Article PDF–3.7M

Select item 709251310.

Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report

Ye Elaine Wang, Dhariana Acon Ramirez, Ta Chen Chang, Audina Berrocal

BMC Ophthalmol. 2020; 20: 118. Published online 2020 Mar 23. doi: 10.1186/s12886-020-01380-6

PMCID:: PMC7092513

Abstract Article PDF–2.8M

Select item 673561311.

VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site

Peter H. Tang, Gabriel Velez, Stephen H. Tsang, Alexander G. Bassuk, Vinit B. Mahajan

Invest Ophthalmol Vis Sci. 2019 Jan; 60(1): 282–293. doi: 10.1167/iovs.18-25624

PMCID:: PMC6735613

Abstract Article PDF–1.8M

Select item 673234212.

TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia

Daniel M. Balkin, Menitha Poranki, Craig M. Forester, Morna J. Dorsey, Anne Slavotinek, Jason H. Pomerantz

Mol Genet Genomic Med. 2019 Sep; 7(9): e818. Published online 2019 Jul 27. doi: 10.1002/mgg3.818

PMCID:: PMC6732342

Abstract Article PDF–1.4M

Select item 650661713.

Zika Virus Infects Trabecular Meshwork and Causes Trabeculitis and Glaucomatous Pathology in Mouse Eyes

Pawan Kumar Singh, Ramesh B. Kasetti, Gulab S. Zode, Anju Goyal, Mark S. Juzych, Ashok Kumar

mSphere. 2019 May-Jun; 4(3): e00173-19. Published online 2019 May 8. doi: 10.1128/mSphere.00173-19

PMCID:: PMC6506617

Abstract Article PDF–3.2M

Select item 638247514.

Ocular phenotypic consequences of a single copy deletion of the Yap1 gene (Yap1^+/−) in mice

Soohyun Kim, Sara M. Thomasy, Vijay Krishna Raghunathan, Leandro B.C. Teixeira, Ala Moshiri, Paul FitzGerald, Christopher J. Murphy

Mol Vis. 2019; 25: 129–142. Published online 2019 Feb 17.

PMCID:: PMC6382475

Abstract Article

Select item 619138315.

The Relationship between Neural Crest Cell Specification and Rare Ocular Diseases

Monica Akula, Jeong Park, Judith West-Mays

J Neurosci Res. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: J Neurosci Res. 2019 Jan; 97(1): 7–15. Published online 2018 Apr 16. doi: 10.1002/jnr.24245

PMCID:: PMC6191383

Abstract Article PDF–471K

Select item 606104616.

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients

Dorothée C. van Trier, Ineke van der Burgt, Renske W. Draaijer, Johannes R. M. Cruysberg, Cees Noordam, Jos M. Draaisma

Eur J Pediatr. 2018; 177(8): 1293–1298. Published online 2018 Jun 9. doi: 10.1007/s00431-018-3183-1

PMCID:: PMC6061046

Abstract Article PDF–387K

Select item 594022817.

Ciliary margin-derived BMP4 does not have a major role in ocular development

Rebecca L. Rausch, Richard T. Libby, Amy E. Kiernan

PLoS One. 2018; 13(5): e0197048. Published online 2018 May 8. doi: 10.1371/journal.pone.0197048

PMCID:: PMC5940228

Abstract Article PDF–21M

Select item 581536818.

RNF213 Variants in a Child with PHACE Syndrome and Moyamoya Vasculopathy

Kala F. Schilter, Jack E. Steiner, Wendy Demos, Mohit Maheshwari, Jeremy W. Prokop, Elizabeth Worthey, Beth A. Drolet, Dawn H. Siegel

Am J Med Genet A. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Am J Med Genet A. 2017 Sep; 173(9): 2557–2561. Published online 2017 Jul 7. doi: 10.1002/ajmg.a.38258

PMCID:: PMC5815368

Abstract Article PDF–287K

Select item 559595219.

Region-specific differential corneal and scleral mRNA expressions of MMP2, TIMP2, and TGFB2 in highly myopic-astigmatic chicks

Lisa Yan-yan Xi, Shea Ping Yip, Sze Wan Shan, Jody Summers-Rada, Chea-su Kee

Sci Rep. 2017; 7: 11423. Published online 2017 Sep 12. doi: 10.1038/s41598-017-08765-6

PMCID:: PMC5595952

Abstract Article PDF–2.4M

Select item 550168920.

Genome-wide retinal transcriptome analysis of endotoxin-induced uveitis in mice with next-generation sequencing

Yiguo Qiu, Peng Yu, Ru Lin, Xinyu Fu, Bingtao Hao, Bo Lei

Mol Vis. 2017; 23: 395–406. Published online 2017 Jul 3.

PMCID:: PMC5501689

Abstract Article PDF–3.5M

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