PMC Articles for MedGen (Select 816710) - PMC

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

Abstract Article PDF–1.9M

Select item 103372735.

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss

Ziying Yang, Minhong Huang, Xiuxiu Wei, Jun Sun, Fuping Zhang

Mol Genet Genomic Med. 2023 Jul; 11(7): e2193. Published online 2023 May 25. doi: 10.1002/mgg3.2193

PMCID:: PMC10337273

Abstract Article PDF–1.7M

Select item 101514076.

Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant

Thomas M Bennett, Yuefang Zhou, Kacie J Meyer, Michael G Anderson, Alan Shiels

G3 (Bethesda) 2023 May; 13(5): jkad055. Published online 2023 Mar 9. doi: 10.1093/g3journal/jkad055

PMCID:: PMC10151407

Abstract Article PDF–793K

Select item 99586497.

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy

Vlasta Hadalin, Maša Buscarino, Jana Sajovic, Andrej Meglič, Martina Jarc-Vidmar, Marko Hawlina, Marija Volk, Ana Fakin

Int J Mol Sci. 2023 Feb; 24(4): 3840. Published online 2023 Feb 14. doi: 10.3390/ijms24043840

PMCID:: PMC9958649

Abstract Article PDF–8.7M

Select item 98737058.

Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males

Omar Babar Saeed, Elias I. Traboulsi, Razek Georges Coussa

Eye (Lond) 2023 Feb; 37(2): 350–355. Published online 2022 Jan 29. doi: 10.1038/s41433-022-01954-2

PMCID:: PMC9873705

Abstract Article PDF–569K

Select item 98439549.

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

Abstract Article PDF–1.8M

Select item 912348410.

Characterizing Visual Fields in RPGR Related Retinitis Pigmentosa Using Octopus Static-Automated Perimetry

Thomas M. W. Buckley, Amandeep Singh Josan, Laura J. Taylor, Jasleen K. Jolly, Jasmina Cehajic-Kapetanovic, Robert E. MacLaren

Transl Vis Sci Technol. 2022 May; 11(5): 15. Published online 2022 May 16. doi: 10.1167/tvst.11.5.15

PMCID:: PMC9123484

Abstract Article PDF–2.1M

Select item 903498311.

Hearing loss in Africa: current genetic profile

Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Elvis Twumasi Aboagye, Osbourne Quaye, Gordon A. Awandare, Ambroise Wonkam

Hum Genet. 2022; 141(3-4): 505–517. Published online 2021 Oct 5. doi: 10.1007/s00439-021-02376-y

PMCID:: PMC9034983

Abstract Article PDF–1008K

Select item 899311912.

Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction

Kimberlee P. Giffen, Yi Li, Huizhan Liu, Xiao-Chang Zhao, Chang-Jun Zhang, Ren-Juan Shen, Tianying Wang, Amanda Janesick, Bo-Bei Chen, Shu-Sheng Gong, Bechara Kachar, Zi-Bing Jin, David Z. He

Sci Adv. 2022 Apr; 8(14): eabk0942. Published online 2022 Apr 8. doi: 10.1126/sciadv.abk0942

PMCID:: PMC8993119

Abstract Article PDF–6.6M

Select item 887215913.

Jonas Neubauer, Leo Hahn, Johannes Birtel, Camiel J. F. Boon, Peter Charbel Issa, M. Dominik Fischer

Genes (Basel) 2022 Feb; 13(2): 313. Published online 2022 Feb 8. doi: 10.3390/genes13020313

PMCID:: PMC8872159

Abstract Article PDF–2.0M

Select item 870398914.

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux

Int J Mol Sci. 2021 Dec; 22(24): 13294. Published online 2021 Dec 10. doi: 10.3390/ijms222413294

PMCID:: PMC8703989

Abstract Article PDF–2.7M

Select item 816205915.

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network

Kerry E. Goetz, Melissa J. Reeves, Shaina Gagadam, Delphine Blain, Chelsea Bender, Cara Lwin, Amelia Naik, Santa J. Tumminia, Robert B. Hufnagel

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2021 Sep 7.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2020 Sep; 184(3): 828–837. Published online 2020 Sep 7. doi: 10.1002/ajmg.c.31843

PMCID:: PMC8162059

Abstract Article PDF–808K

Select item 814686416.

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort

Yoon-Jeon Kim, You-Na Kim, Young-Hee Yoon, Eul-Ju Seo, Go-Hun Seo, Changwon Keum, Beom-Hee Lee, Joo-Yong Lee

Genes (Basel) 2021 May; 12(5): 675. Published online 2021 Apr 30. doi: 10.3390/genes12050675

PMCID:: PMC8146864

Abstract Article PDF–1.6M

Select item 771623417.

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

Saoud Al-khuzaei, Suzanne Broadgate, Stephanie Halford, Jasleen K. Jolly, Morag Shanks, Penny Clouston, Susan M. Downes

Genes (Basel) 2020 Nov; 11(11): 1288. Published online 2020 Oct 29. doi: 10.3390/genes11111288

PMCID:: PMC7716234

Abstract Article PDF–2.8M

Select item 768857718.

Pharmacological clearance of misfolded rhodopsin for the treatment of RHO-associated retinitis pigmentosa.

Xujie Liu, Bing Feng, Abhishek Vats, Hong Tang, William Seibel, Manju Swaroop, Gregory Tawa, Wei Zheng, Leah Byrne, Mark Schurdak, Yuanyuan Chen

FASEB J. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: FASEB J. 2020 Aug; 34(8): 10146–10167. Published online 2020 Jun 14. doi: 10.1096/fj.202000282R

PMCID:: PMC7688577

Abstract Article PDF–3.5M

Select item 751682219.

Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa

Jasmina Cehajic-Kapetanovic, Michelle E. McClements, Jennifer Whitfield, Morag Shanks, Penny Clouston, Robert E. MacLaren

JAMA Ophthalmol. 2020 Nov; 138(11): 1151–1158. Published online 2020 Sep 24. doi: 10.1001/jamaophthalmol.2020.3634

PMCID:: PMC7516822

Abstract Article

Select item 734387620.

Genetic spectrum of retinal dystrophies in Tunisia

Imen Habibi, Yosra Falfoul, Ahmed Turki, Asma Hassairi, Khaled El Matri, Ahmed Chebil, Daniel F. Schorderet, Leila El Matri

Sci Rep. 2020; 10: 11199. Published online 2020 Jul 8. doi: 10.1038/s41598-020-67792-y

PMCID:: PMC7343876

Abstract Article PDF–2.9M

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