PMC Articles for MedGen (Select 323029) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 24

<< First< Prev

Page of 2

Select item 108465901.

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

Abstract Article PDF–1.2M

Select item 101900572.

Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report

Hyun Woo Lee, Eun Kyoung Lee

BMC Ophthalmol. 2023; 23: 221. Published online 2023 May 17. doi: 10.1186/s12886-023-02968-4

PMCID:: PMC10190057

Abstract Article PDF–2.1M

Select item 96704413.

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 96039034.

Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene

Tahleel Ali-Nasser, Shiri Zayit-Soudry, Eyal Banin, Dror Sharon, Tamar Ben-Yosef

Mol Vis. 2022; 28: 359–368. Published online 2022 Oct 6.

PMCID:: PMC9603903

Abstract Article PDF–2.1M

Select item 84704945.

Ocular Toxoplasmosis Associated with Unilateral Pigmentary Retinopathy That May Mimic Retinitis Pigmentosa: Diagnostic Dilemmas

Izabella Karska-Basta, Bożena Romanowska-Dixon, Dorota Pojda-Wilczek, Natalia Mackiewicz

Medicina (Kaunas) 2021 Sep; 57(9): 892. Published online 2021 Aug 27. doi: 10.3390/medicina57090892

PMCID:: PMC8470494

Abstract Article PDF–7.7M

Select item 81427216.

Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration

Yingwei Wang, Panfeng Wang, Shiqiang Li, Jiamin Ouyang, Xiaoyun Jia, Xueshan Xiao, Junxing Yang, Xueqing Li, Wenmin Sun, Qingjiong Zhang

Invest Ophthalmol Vis Sci. 2021 May; 62(6): 19. Published online 2021 May 18. doi: 10.1167/iovs.62.6.19

PMCID:: PMC8142721

Abstract Article PDF–8.7M

Select item 80977997.

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

Feng-Juan Gao, Dan-Dan Wang, Jian-Kang Li, Fang-Yuan Hu, Ping Xu, Fang Chen, Yu-He Qi, Wei Liu, Wei Li, Sheng-Hai Zhang, Qing Chang, Ge-Zhi Xu, Ji-Hong Wu

Orphanet J Rare Dis. 2021; 16: 174. Published online 2021 Apr 13. doi: 10.1186/s13023-021-01807-3

PMCID:: PMC8097799

Abstract Article PDF–2.1M

Select item 80564708.

A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa

DaNae R. Woodard, Chao Xing, Pratyusha Ganne, Hanquan Liang, Avinash Mahindrakar, Chandrasekhar Sankurathri, John D. Hulleman, V. Vinod Mootha

Mol Vis. 2021; 27: 179–190. Published online 2021 Apr 2.

PMCID:: PMC8056470

Abstract Article PDF–4.5M

Select item 74954249.

Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations

Avigail Beryozkin, Samer Khateb, Carlos Alberto Idrobo-Robalino, Muhammad Imran Khan, Frans P. M. Cremers, Alexey Obolensky, Mor Hanany, Eedy Mezer, Itay Chowers, Hadas Newman, Tamar Ben-Yosef, Dror Sharon, Eyal Banin

Sci Rep. 2020; 10: 15156. Published online 2020 Sep 16. doi: 10.1038/s41598-020-72028-0

PMCID:: PMC7495424

Abstract Article PDF–3.4M

Select item 706503410.

Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration

Abigail T. Fahim, Debra A. Thompson

Adv Exp Med Biol. Author manuscript; available in PMC 2020 Mar 11.

Published in final edited form as: Adv Exp Med Biol. 2019; 1185: 209–213. doi: 10.1007/978-3-030-27378-1_34

PMCID:: PMC7065034

Abstract Article PDF–149K

Select item 698234811.

Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa

Marianthi Karali, Francesco Testa, Raffaella Brunetti-Pierri, Valentina Di Iorio, Mariateresa Pizzo, Paolo Melillo, Maria Rosaria Barillari, Annalaura Torella, Francesco Musacchia, Luigi D’Angelo, Sandro Banfi, Francesca Simonelli

Int J Mol Sci. 2020 Jan; 21(1): 86. Published online 2019 Dec 20. doi: 10.3390/ijms21010086

PMCID:: PMC6982348

Abstract Article PDF–1.1M

Select item 610451612.

Retinopathy and optic atrophy: expanding the phenotypic spectrum of pathogenic variants in AARS2 gene

Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar

Ophthalmic Genet. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Ophthalmic Genet. 2018 Jan-Feb; 39(1): 99–102. Published online 2017 Aug 18. doi: 10.1080/13816810.2017.1350723

PMCID:: PMC6104516

Abstract Article PDF–258K

Select item 389802913.

Adult phenotype and further phenotypic variability in SRD5A3-CDG

Bülent Kara, Özgecan Ayhan, Gülden Gökçay, Nurdan Başboğaoğlu, Aslıhan Tolun

BMC Med Genet. 2014; 15: 10. Published online 2014 Jan 16. doi: 10.1186/1471-2350-15-10

PMCID:: PMC3898029

Abstract Article PDF–2.3M

Select item 369240714.

Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family

Johanna Pach, Susanne Kohl, Florian Gekeler, Ditta Zobor

Mol Vis. 2013; 19: 1350–1355. Published online 2013 Jun 13.

PMCID:: PMC3692407

Abstract Article PDF–1.4M

Select item 362629615.

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

Leila Tiab, Leila Largueche, Ibtissem Chouchane, Kaouthar Derouiche, Francis L. Munier, Leila El Matri, Daniel F. Schorderet

Mol Vis. 2013; 19: 829–834. Published online 2013 Apr 5.

PMCID:: PMC3626296

Abstract Article PDF–1.0M

Select item 336506916.

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa

Yun Wang, Liheng Guo, Su-Ping Cai, Meizhi Dai, Qiaona Yang, Wenhan Yu, Naihong Yan, Xiaomin Zhou, Jin Fu, Xinwu Guo, Pengfei Han, Jun Wang, Xuyang Liu

PLoS One. 2012; 7(5): e33673. Published online 2012 May 31. doi: 10.1371/journal.pone.0033673

PMCID:: PMC3365069

Abstract Article PDF–3.1M

Select item 329842217.

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa

Cécilia Maubaret, Maria Kosmaoglou, Sancy Low, Christina F. Chakarova, Samuel Bidot, Christel Thauvin-Robinet, Anthony G. Robson, Naushin Waseem, Michael E. Cheetham, Shomi S. Bhattacharya

Mol Vis. 2012; 18: 581–587. Published online 2012 Mar 2.

PMCID:: PMC3298422

Abstract Article PDF–891K

Select item 311574818.

Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II

Wenjun Xu, Hanjun Dai, Tingting Lu, Xiaohui Zhang, Bing Dong, Yang Li

Mol Vis. 2011; 17: 1537–1552. Published online 2011 Jun 9.

PMCID:: PMC3115748

Abstract Article PDF–4.1M

Select item 293334319.

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

Dikla Bandah-Rozenfeld, Liliana Mizrahi-Meissonnier, Chen Farhy, Alexey Obolensky, Itay Chowers, Jacob Pe'er, Saul Merin, Tamar Ben-Yosef, Ruth Ashery-Padan, Eyal Banin, Dror Sharon

Am J Hum Genet. 2010 Sep 10; 87(3): 382–391. doi: 10.1016/j.ajhg.2010.07.022