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Items: 1 to 20 of 271

1.
Pupillary Light Reflex Reveals Melanopsin System Alteration in the Background of Myopia-26, the Female Limited Form of Early-Onset High Myopia
Mirella T. S. Barboni, Noémi Széll, Zoltán Sohajda, Tamás Fehér
Invest Ophthalmol Vis Sci. 2024 Jul; 65(8): 6. Published online 2024 Jul 3. doi: 10.1167/iovs.65.8.6
PMCID:
PMC11223624
AbstractArticlePDF–1.3M
2.
Retinitis pigmentosa with iris coloboma due to miR‐204 gene variant in a Chinese family
Zhang Lei, Zhu He‐Lin, Wang Hai‐Yan, Jia Wei, Wang Ru, Cui Zhi‐Li, Wang Qian‐Feng
Mol Genet Genomic Med. 2024 Jun; 12(6): e2481. Published online 2024 Jun 13. doi: 10.1002/mgg3.2481
PMCID:
PMC11169764
AbstractArticlePDF–1.6M
3.
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration
Fengying Sun, Minmin Xiao, Dong Ji, Feng Zheng, Tieliu Shi
Orphanet J Rare Dis. 2024; 19: 226. Published online 2024 Jun 6. doi: 10.1186/s13023-024-03220-y
PMCID:
PMC11155130
AbstractArticlePDF–6.6M
4.
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project
Omayma Al-Saei, Samantha Malka, Nicholas Owen, Elbay Aliyev, Fazulur Rehaman Vempalli, Paulina Ocieczek, Bashayer Al-Khathlan, Genomics England Research Consortium, Khalid Fakhro, Mariya Moosajee
BMC Genomics. 2024; 25: 484. Published online 2024 May 16. doi: 10.1186/s12864-024-10353-8
PMCID:
PMC11097485
AbstractArticlePDF–2.9M
5.
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches
Alejandra Daruich, Melinda Duncan, Matthieu P. Robert, Neil Lagali, Elena V. Semina, Daniel Aberdam, Stefano Ferrari, Vito Romano, Cyril Burin des Roziers, Rabia Benkortebi, Nathalie De Vergnes, Michel Polak, Frederic Chiambaretta, Ken K. Nischal, Francine Behar-Cohen, Sophie Valleix, Dominique Bremond-Gignac
Prog Retin Eye Res. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: Prog Retin Eye Res. 2023 Jul; 95: 101133. Published online 2022 Oct 22. doi: 10.1016/j.preteyeres.2022.101133
PMCID:
PMC11062406
AbstractArticlePDF–2.2M
6.
An unusual presentation of de novo RAC3 variation in prenatal diagnosis
Colombine Meunier, Marie Cassart, Karole Kostyla, Nicolas Simonis, Olivier Monestier, Aude Tessier
Childs Nerv Syst. 2024; 40(5): 1597–1602. Published online 2024 Jan 12. doi: 10.1007/s00381-024-06285-z
PMCID:
PMC11026260
AbstractArticlePDF–1.3M
7.
In Vivo Assessment of Retinal Phenotypes in Axenfeld–Rieger Syndrome
Ana Untaroiu, Linda M. Reis, Brian P. Higgins, Ashleigh Walesa, Serena Zacharias, Danica Nikezic, Deborah M. Costakos, Joseph Carroll, Elena V. Semina
Invest Ophthalmol Vis Sci. 2024 Apr; 65(4): 20. Published online 2024 Apr 8. doi: 10.1167/iovs.65.4.20
PMCID:
PMC11005067
AbstractArticlePDF–3.2M
8.
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion
Ibrahim Serhat Karakus, Mehmet Cihangir Catak, Alexandra Frohne, Feyza Bayram Catak, Melek Yorgun Altunbas, Royala Babayeva, Sevgi Kostel Bal, Sevgi Bilgic Eltan, Ezgi Yalcin Gungoren, Fehim Esen, Itir Ebru Zemheri, Elif Karakoc-Aydiner, Ahmet Ozen, Suar Caki-Kilic, Michael J. Kraakman, Kaan Boztug, Safa Baris
J Clin Immunol. 2024; 44(4): 94. Published online 2024 Apr 5. doi: 10.1007/s10875-024-01682-0
PMCID:
PMC10997552
AbstractArticlePDF–4.7M
9.
Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity
Seungwoon Seo, Seong Keun Sonn, Hyae Yon Kweon, Jing Jin, Tsutomu Kume, Je Yeong Ko, Jong Hoon Park, Goo Taeg Oh
Invest Ophthalmol Vis Sci. 2024 Mar; 65(3): 30. Published online 2024 Mar 22. doi: 10.1167/iovs.65.3.30
PMCID:
PMC10981158
AbstractArticlePDF–20M
10.
Circulating cell-free DNA does not harbour a diagnostic benefit in cats with feline diffuse iris melanomas
Jessica G Rushton, Reinhard Ertl, Dieter Klein, Alexander Tichy, Barbara Nell
J Feline Med Surg. 2019 Feb; 21(2): 124–132. Published online 2018 Mar 13. doi: 10.1177/1098612X18762017
PMCID:
PMC10814613
AbstractArticlePDF–488K
11.
A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia
Yinwen Li, Jieqiong Chen, Ying Zheng, Zhixuan Chen, Tao Wang, Qian Sun, Xiaoling Wan, Haiyun Liu, Xiaodong Sun
BMC Ophthalmol. 2023; 23: 393. Published online 2023 Sep 26. doi: 10.1186/s12886-023-03147-1
PMCID:
PMC10523764
AbstractArticlePDF–1.6M
12.
A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis
Yanping Yu, Hongyan Jia, Qian Ma, Ranran Zhang, Yonghong Jiao
BMC Ophthalmol. 2023; 23: 349. Published online 2023 Aug 8. doi: 10.1186/s12886-023-03054-5
PMCID:
PMC10408164
AbstractArticlePDF–3.1M
13.
A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD
Qian Wang, Wen Bin Wei, Xiang Yu Shi, Wei Ning Rong
BMC Med Genomics. 2023; 16: 182. Published online 2023 Aug 4. doi: 10.1186/s12920-023-01620-w
PMCID:
PMC10401864
AbstractArticlePDF–2.0M
14.
A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV
Yanan Wang, Yuqiong Chai, Pai Zhang, Weiwei Zang
BMC Med Genomics. 2023; 16: 147. Published online 2023 Jun 26. doi: 10.1186/s12920-023-01572-1
PMCID:
PMC10294417
AbstractArticlePDF–1.2M
15.
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodríguez de Alba, Cristina Villaverde, Cédric Fund, Marc Delépine, Aurélie Leduc, Jean François Deleuze, Pablo Mínguez, Carmen Ayuso, Marta Corton
Hum Genomics. 2023; 17: 45. Published online 2023 Jun 2. doi: 10.1186/s40246-023-00490-8
PMCID:
PMC10236743
AbstractArticlePDF–3.7M
16.
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome
Laryssa A Huryn, Taylor Flaherty, Rosalie Nolen, Lev Prasov, Wadih M Zein, Catherine A Cukras, Sharon Osgood, Neelam Raja, Mark D Levin, Susan Vitale, Brian P Brooks, Robert B Hufnagel, Beth A Kozel
Br J Ophthalmol. 2023 Oct; 107(10): 1554–1559. Published online 2022 Jun 27. doi: 10.1136/bjophthalmol-2022-321103
PMCID:
PMC10074447
AbstractArticlePDF–1.0M
17.
PAX6 disease models for aniridia
Dorsa Abdolkarimi, Dulce Lima Cunha, Manuela Lahne1, Mariya Moosajee
Indian J Ophthalmol. 2022 Dec; 70(12): 4119–4129. Published online 2022 Nov 30. doi: 10.4103/ijo.IJO_316_22
PMCID:
PMC9940591
AbstractArticlePDF–2.2M
18.
A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy
Junwei Zhong, Jie Shi, Xiaotian Zhang, Ke Xu, Xiaohui Zhang, Yue Xie, Yang Li
Mol Genet Genomic Med. 2023 Feb; 11(2): e2083. Published online 2022 Nov 5. doi: 10.1002/mgg3.2083
PMCID:
PMC9938748
AbstractArticlePDF–5.6M
19.
Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome
Jibril B. Hirbo, Francesca Pasutto, Eric R. Gamazon, Patrick Evans, Priyanka Pawar, Daniel Berner, Julia Sealock, Ran Tao, Peter S. Straub, Anuar I. Konkashbaev, Max A. Breyer, Ursula Schlötzer-Schrehardt, André Reis, Milam A. Brantley, Jr, Chiea C. Khor, Karen M. Joos, Nancy J. Cox
BMC Genomics. 2023; 24: 75. Published online 2023 Feb 16. doi: 10.1186/s12864-023-09179-7
PMCID:
PMC9936777
AbstractArticlePDF–3.0M
20.
1例Angelman综合征合并眼皮肤白化病2型患者的临床和遗传学分析及文献回顾
周 秋君, 龚 潘, 焦 莶如, 杨 志仙
Beijing Da Xue Xue Bao Yi Xue Ban. 2023 Feb 18; 55(1): 181–185. Chinese. Published online 2022 Apr 13. doi: 10.19723/j.issn.1671-167X.2023.01.028
PMCID:
PMC9894804
AbstractArticlePDF–1.4M

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