PMC Articles for MedGen (Select 892525) - PMC

Links from MedGen

Items: 1 to 20 of 85

<< First< Prev

Page of 5

Select item 111396441.

RBP3-Retinopathy—Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping

Michalis Georgiou, Kaoru Fujinami, Anthony G. Robson, Yu Fujinami-Yokokawa, Ahmed F. Shakarchi, Marco H. Ji, Sami H. Uwaydat, Angela Kim, Masha Kolesnikova, Gavin Arno, Nikolas Pontikos, Omar A. Mahroo, Stephen H. Tsang, Andrew R. Webster, Michel Michaelides

Am J Ophthalmol. 2024 Feb; 258: 119–129. doi: 10.1016/j.ajo.2023.09.025

PMCID:: PMC11139644

Abstract Article PDF–2.2M

Select item 111231952.

Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients

Marco Piergentili, Vito Spagnuolo, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Elisabetta Pelo, Fabrizio Giansanti, Gianni Virgili, Andrea Sodi

Medicina (Kaunas) 2024 May; 60(5): 797. Published online 2024 May 11. doi: 10.3390/medicina60050797

PMCID:: PMC11123195

Abstract Article PDF–11M

Select item 111059873.

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology

Veronika Vaclavik, Aurelie Navarro, Alain Jacot-Guillarmod, Armand Bottani, Young Joo Sun, Joel A. Franco, Vinit B. Mahajan, Vasily Smirnov, Isabelle Bouvet-Drumare

Graefes Arch Clin Exp Ophthalmol. 2024; 262(6): 1737–1744. Published online 2024 Jan 11. doi: 10.1007/s00417-023-06345-1

PMCID:: PMC11105987

Abstract Article PDF–6.5M

Select item 110367754.

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini

BMC Med Genomics. 2024; 17: 100. Published online 2024 Apr 22. doi: 10.1186/s12920-024-01868-w

PMCID:: PMC11036775

Abstract Article PDF–2.3M

Select item 109549855.

Unusual OCT findings in a patient with CABP4-associated cone–rod synaptic disorder

Jit Kai Tan, Gavin Arno, Dragana Josifova, Moin D. Mohamed, Omar A. Mahroo

Doc Ophthalmol. 2024; 148(2): 115–120. Published online 2024 Jan 11. doi: 10.1007/s10633-023-09961-8

PMCID:: PMC10954985

Abstract Article PDF–924K

Select item 104180256.

Phenotypic heterogeneity in family members of patients with retinitis pigmentosa

Rajasekar Loheshwari Kuppuraj, Neriyanuri Srividya, Sathyaprasath Mathangi, Arunacahalam Jayamuruga Pandian, Verma Adithya, Raman Rajiv

Indian J Ophthalmol. 2023 Jun; 71(6): 2504–2511. Published online 2023 Jun 14. doi: 10.4103/ijo.IJO_1853_22

PMCID:: PMC10418025

Abstract Article PDF–3.2M

Select item 101527677.

NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment

Jun Sone, Shinji Ueno, Akio Akagi, Hiroaki Miyahara, Chisato Tamai, Yuichi Riku, Hiroyuki Yabata, Ryuichi Koizumi, Tomohiro Hattori, Hiroshi Hirose, Yoshito Koyanagi, Rei Kobayashi, Hisashi Okada, Yoshiyuki Kishimoto, Yoshio Hashizume, Gen Sobue, Mari Yoshida, Yasushi Iwasaki

Acta Neuropathol Commun. 2023; 11: 71. Published online 2023 May 2. doi: 10.1186/s40478-023-01564-3

PMCID:: PMC10152767

Abstract Article PDF–2.3M

Select item 100479268.

Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review

Zixuan Jiang, Panfeng Wang

Genes (Basel) 2023 Mar; 14(3): 587. Published online 2023 Feb 25. doi: 10.3390/genes14030587

PMCID:: PMC10047926

Abstract Article PDF–2.3M

Select item 97712689.

A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report

Keitaro Mizumoto, Kumiko Kato, Kaoru Fujinami, Tadasu Sugita, Iichiro Sugita, Ayako Hattori, Shinji Saitoh, Shinji Ueno, Kazushige Tsunoda, Takeshi Iwata, Mineo Kondo

Medicine (Baltimore) 2022 Dec 16; 101(50): e32161. Published online 2022 Dec 16. doi: 10.1097/MD.0000000000032161

PMCID:: PMC9771268

Abstract Article PDF–699K

Select item 967044110.

Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

Nelson Chen, Hane Lee, Angela H. Kim, Pei-Kang Liu, Eugene Yu-Chuan Kang, Yun-Ju Tseng, Go Hun Seo, Rin Khang, Laura Liu, Kuan-Jen Chen, We-Chi Wu, Meng-Chang Hsiao, Nan-Kai Wang

BMC Ophthalmol. 2022; 22: 441. Published online 2022 Nov 16. doi: 10.1186/s12886-022-02659-6

PMCID:: PMC9670441

Abstract Article PDF–1.1M

Select item 960392511.

A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes

Ulrika Kjellström, Sten Andréasson

Mol Vis. 2022; 28: 300–316. Published online 2022 Oct 1.

PMCID:: PMC9603925

Abstract Article PDF–1.4M

Select item 946466412.

Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease

Winston Lee, Pei-Yin Su, Jana Zernant, Takayuki Nagasaki, Stephen H. Tsang, Rando Allikmets

Ophthalmol Retina. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Ophthalmol Retina. 2022 Apr 10 : S2468-6530(22)00182-8. Published online 2022 Apr 10. doi: 10.1016/j.oret.2022.04.005

PMCID:: PMC9464664

Abstract Article PDF–2.4M

Select item 931506913.

Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2

Shannon M. Conley, Cynthia K. McClard, Maggie L. Mwoyosvi, Niyaf Alkadhem, Bojana Radojevic, Martin Klein, David Birch, Ashley Ellis, Sonny W. Icks, Tejesh Guddanti, Lea D. Bennett

Invest Ophthalmol Vis Sci. 2022 Jul; 63(8): 19. Published online 2022 Jul 21. doi: 10.1167/iovs.63.8.19

PMCID:: PMC9315069

Abstract Article PDF–3.2M

Select item 921790614.

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage

Alessandro Orsini, Daniele Ferrari, Antonella Riva, Andrea Santangelo, Angelo Macrì, Elena Freri, Laura Canafoglia, Alfredo D’Aniello, Giancarlo Di Gennaro, Gabriele Massimetti, Carlo Minetti, Federico Zara, Roberto Michelucci, Anupreet Tumber, Ajoy Vincent, Berge Arakel Minassian, Pasquale Striano

J Neurol. 2022; 269(7): 3597–3604. Published online 2022 Feb 20. doi: 10.1007/s00415-022-10974-7

PMCID:: PMC9217906

Abstract Article PDF–753K

Select item 908114415.

Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations

Robert A. Hyde, Jason C. Park, Evelina Kratunova, J. Jason McAnany

Ophthalmic Genet. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: Ophthalmic Genet. 2022 Apr; 43(2): 268–276. Published online 2021 Dec 7. doi: 10.1080/13816810.2021.2002916

PMCID:: PMC9081144

Abstract Article PDF–810K

Select item 905555316.

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Vasily M. Smirnov, Marco Nassisi, Saddek Mohand-Saïd, Crystel Bonnet, Anne Aubois, Céline Devisme, Thilissa Dib, Christina Zeitz, Natalie Loundon, Sandrine Marlin, Christine Petit, Bahram Bodaghi, José-Alain Sahel, Isabelle Audo

Invest Ophthalmol Vis Sci. 2022 Apr; 63(4): 25. Published online 2022 Apr 28. doi: 10.1167/iovs.63.4.25

PMCID:: PMC9055553

Abstract Article PDF–9.1M

Select item 890617217.

A novel and efficient murine model of Bietti crystalline dystrophy

Yafang Wang, Yang Liu, Shu Liu, Xiaomeng Li, Xinxin Liu, Ming Jiao, Yuqin Yang, Xueting Luo, Fenghua Wang, Xiaoling Wan, Xiaodong Sun

Dis Model Mech. 2022 Mar 1; 15(3): dmm049222. Published online 2022 Mar 1. doi: 10.1242/dmm.049222

PMCID:: PMC8906172

Abstract Article

Select item 874389718.

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model

Tomas S. Aleman, Erin C. O’Neil, Keli O’Connor, Yu You Jiang, Isabella A. Aleman, Jean Bennett, Jessica I. W. Morgan, Brian W. Toussaint

Ophthalmic Genet. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Ophthalmic Genet. 2021 Jun; 42(3): 252–265. Published online 2021 Mar 17. doi: 10.1080/13816810.2021.1888132

PMCID:: PMC8743897

Abstract Article PDF–4.3M

Select item 859630219.

Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation with Other Measures of Disease Severity

Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Isabelle Audo, Allison R. Ayala, David G. Birch, Joseph Carroll, Janet K. Cheetham, Simona Degli Esposti, Todd A. Durham, Laura Erker, Sina Farsiu, Frederick L. Ferris, III, Elise Heon, Robert B. Hufnagel, Alessandro F. Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, José-Alain Sahel, Foundation Fighting Blindness Consortium Investigator Group

Am J Ophthalmol. Author manuscript; available in PMC 2021 Nov 17.

Published in final edited form as: Am J Ophthalmol. 2020 Nov; 219: 87–100. Published online 2020 May 22. doi: 10.1016/j.ajo.2020.05.024

PMCID:: PMC8596302

Article PDF–818K

Select item 850159520.

Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome

Olivier Perche, Fabien Lesne, Alain Patat, Susanne Raab, Roy Twyman, Robert H. Ring, Sylvain Briault

J Neurodev Disord. 2021; 13: 45. Published online 2021 Oct 8. doi: 10.1186/s11689-021-09375-0

PMCID:: PMC8501595

Abstract Article PDF–1.4M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 85

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity