PMC Articles for MedGen (Select 1794135) - PMC

Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai

BMC Med Genomics. 2024; 17: 106. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01880-0

PMCID:: PMC11046915

Article PDF–1.6M

Select item 110003295.

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang, Xiumin Wang

Orphanet J Rare Dis. 2024; 19: 149. Published online 2024 Apr 8. doi: 10.1186/s13023-024-03150-9

PMCID:: PMC11000329

Article PDF–1.7M

Select item 108465906.

Histopathological Comparison of Eyes from Patients with Autosomal Recessive Retinitis Pigmentosa caused by novel EYS Mutations

Vera L. Bonilha, Mary E. Rayborn, Brent A. Bell, Meghan J. Marino, Gayle J. Pauer, Craig D. Beight, John Chiang, Elias I. Traboulsi, Joe G. Hollyfield, Stephanie A. Hagstrom

Graefes Arch Clin Exp Ophthalmol. Author manuscript; available in PMC 2024 Feb 6.

Published in final edited form as: Graefes Arch Clin Exp Ophthalmol. 2015 Feb; 253(2): 295–305. Published online 2014 Dec 11. doi: 10.1007/s00417-014-2868-z

PMCID:: PMC10846590

Article PDF–1.2M

Select item 105675817.

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History

Michalis Georgiou, Anthony G. Robson, Katarina Jovanovic, Thales A. C. de Guimarães, Naser Ali, Nikolas Pontikos, Sami H. Uwaydat, Omar A. Mahroo, Michael E. Cheetham, Andrew R. Webster, Alison J. Hardcastle, Michel Michaelides

Ophthalmology. 2023 Apr; 130(4): 413–422. doi: 10.1016/j.ophtha.2022.11.015

PMCID:: PMC10567581

Article PDF–1.9M

Select item 105558568.

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

Malena Daich Varela, Michalis Georgiou, Yahya Alswaiti, Jamil Kabbani, Kaoru Fujinami, Yu Fujinami-Yokokawa, Shaheeni Khoda, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides

Am J Ophthalmol. 2023 Feb; 246: 107–121. doi: 10.1016/j.ajo.2022.09.002

PMCID:: PMC10555856

Article PDF–2.2M

Select item 103799359.

Retinal Angiomatous Proliferation in a Patient with Retinitis Pigmentosa

Peter Kiraly, Susan M. Downes, M. Dominik Fischer

Genes (Basel) 2023 Jul; 14(7): 1438. Published online 2023 Jul 13. doi: 10.3390/genes14071438

PMCID:: PMC10379935

Article PDF–2.2M

Select item 1027856510.

MACULAR ATROPHY AND PHENOTYPIC VARIABILITY IN AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY DUE TO PROM1 MUTATION

Aaron M. Ricca, Ian C. Han, JEREMY HOFFMANN, Edwin M. Stone, Elliott H. Sohn

Retina. 2023 Jul; 43(7): 1165–1173. Published online 2023 Mar 15. doi: 10.1097/IAE.0000000000003784

PMCID:: PMC10278565

Article PDF–566K

Select item 1025665811.

Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging

Dhimas H. Sakti, Elisa E. Cornish, Clare L. Fraser, Benjamin M. Nash, Trent M. Sandercoe, Michael M. Jones, Neil A. Rowe, Robyn V. Jamieson, Alexandra M. Johnson, John R. Grigg

Doc Ophthalmol. 2023; 146(3): 241–256. Published online 2023 Mar 25. doi: 10.1007/s10633-023-09930-1

PMCID:: PMC10256658

Article PDF–1.4M

Select item 1021801712.

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans

Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon Woo

Genes (Basel) 2023 May; 14(5): 1057. Published online 2023 May 8. doi: 10.3390/genes14051057

PMCID:: PMC10218017

Article PDF–3.7M

Select item 984395413.

Thicknesses of the retina and choroid in children with retinitis pigmentosa

Cheng Li, Chunxia Peng, Chengyue Zhang, Ningdong Li

BMC Ophthalmol. 2023; 23: 25. Published online 2023 Jan 17. doi: 10.1186/s12886-023-02772-0

PMCID:: PMC9843954

Article PDF–1.8M

Select item 974802314.

Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study

Ragkit Suvannaboon, Aulia Rahmi Pawestri, Worapoj Jinda, Aekkachai Tuekprakhon, Adisak Trinavarat, La-ongsri Atchaneeyasakul

Sci Rep. 2022; 12: 21494. Published online 2022 Dec 13. doi: 10.1038/s41598-022-26017-0

PMCID:: PMC9748023

Article PDF–2.3M

Select item 967466115.

Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration

Zhen Yi, Shiqiang Li, Siyu Wang, Xueshan Xiao, Wenmin Sun, Qingjiong Zhang

Eye (Lond) 2022 Dec; 36(12): 2279–2285. Published online 2021 Nov 26. doi: 10.1038/s41433-021-01853-y

PMCID:: PMC9674661

Article PDF–1.0M

Select item 961657316.

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

Richard G Lee, Shanti Balasubramaniam, Maike Stentenbach, Tom Kralj, Tim McCubbin, Benjamin Padman, Janine Smith, Lisa G Riley, Archana Priyadarshi, Liuyu Peng, Madison R Nuske, Richard Webster, Ken Peacock, Philip Roberts, Zornitza Stark, Gabrielle Lemire, Yoko A Ito, Care4Rare Canada Consortium, Kym M Boycott, Michael T Geraghty, Jan Bert van Klinken, Sacha Ferdinandusse, Ying Zhou, Rebecca Walsh, Esteban Marcellin, David R Thorburn, Tony Rosciolli, Janice Fletcher, Oliver Rackham, Frédéric M Vaz, Gavin E Reid, Aleksandra Filipovska

Hum Mol Genet. 2022 Nov 1; 31(21): 3597–3612. Published online 2022 Feb 11. doi: 10.1093/hmg/ddac040