PMC Links for Nucleotide (Select 1653961274) - PMC

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Items: 16

Select item 63636371.

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa

Xiaoqiang Xiao, Yingjie Cao, Shaowan Chen, Min Chen, Xiaoting Mai, Yuqian Zheng, Xi Zhuang, Tsz Kin Ng, Haoyu Chen

Mol Vis. 2019; 25: 35–46. Published online 2019 Jan 20.

PMCID:: PMC6363637

Abstract Article PDF–1.7M

Select item 62028412.

The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation

Yuko Seko, Masaki Iwanami, Kiyoko Miyamoto-Matsui, Shimpei Takita, Noriyuki Aoi, Akihiro Umezawa, Seishi Kato

Stem Cell Res Ther. 2018; 9: 279. Published online 2018 Oct 25. doi: 10.1186/s13287-018-1016-9

PMCID:: PMC6202841

Abstract Article PDF–1.2M

Select item 26891543.

Large-scale Molecular Analysis of a 34 Mb Interval on Chromosome 6q: Major Refinement of the RP25 Interval

M. M. Abd El-Aziz, I. Barragan, C. O’Driscoll, S. Borrego, L. Abu-Safieh, J. I. Pieras, M. F. El-Ashry, E. Prigmore, N. Carter, G. Antinolo, S. S. Bhattacharya

Ann Hum Genet. Author manuscript; available in PMC 2009 Jun 1.

Published in final edited form as: Ann Hum Genet. 2008 Jul; 72(Pt 4): 463–477. Published online 2007 May 29. doi: 10.1111/j.1469-1809.2008.00455.x

PMCID:: PMC2689154

Abstract Article PDF–617K

Select item 26680424.

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

Rob W.J. Collin, Karin W. Littink, B. Jeroen Klevering, L. Ingeborgh van den Born, Robert K. Koenekoop, Marijke N. Zonneveld, Ellen A.W. Blokland, Tim M. Strom, Carel B. Hoyng, Anneke I. den Hollander, Frans P.M. Cremers

Am J Hum Genet. 2008 Nov 17; 83(5): 594–603. doi: 10.1016/j.ajhg.2008.10.014

PMCID:: PMC2668042

Abstract Article PDF–537K

Select item 13779585.

Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.

S Khaliq, A Hameed, M Ismail, S Q Mehdi, D A Bessant, A M Payne, S S Bhattacharya

Am J Hum Genet. 1999 Aug; 65(2): 571–574. doi: 10.1086/302493

PMCID:: PMC1377958

Summary PDF–896K

Select item 13771456.

A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters.

A Ruiz, S Borrego, I Marcos, G Antiñolo

Am J Hum Genet. 1998 Jun; 62(6): 1452–1459. doi: 10.1086/301866

PMCID:: PMC1377145

Summary PDF–603K

Select item 63779447.

Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations

Kinga M. Bujakowska, Rosario Fernandez-Godino, Emily Place, Mark Cosugar, Daniel Navarro-Gomez, Joseph White, Emma C. Bedoukian, Xiaosong Zhu, Hongbo M. Xie, Xiaowu Gai, Bart P. Leroy, Eric A. Pierce

Genet Med. Author manuscript; available in PMC 2019 Feb 17.

Published in final edited form as: Genet Med. 2017 Jun; 19(6): 643–651. Published online 2016 Oct 13. doi: 10.1038/gim.2016.158

PMCID:: PMC6377944

Abstract Article PDF–1.7M

Select item 61941328.

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

Maitane Ezquerra-Inchausti, Ander Anasagasti, Olatz Barandika, Gonzaga Garay-Aramburu, Marta Galdós, Adolfo López de Munain, Cristina Irigoyen, Javier Ruiz-Ederra

Sci Rep. 2018; 8: 15457. Published online 2018 Oct 18. doi: 10.1038/s41598-018-33810-3

Correction in:: Sci Rep. 2019; 9: 8113.

PMCID:: PMC6194132

Abstract Article PDF–1.5M

Select item 53135629.

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa

Feng-Juan Gao, Sheng-Hai Zhang, Jun-Yi Chen, Ge-Zhi Xu, Ji-Hong Wu

Int J Ophthalmol. 2017; 10(2): 325–328. Published online 2017 Feb 18. doi: 10.18240/ijo.2017.02.25

PMCID:: PMC5313562

Article PDF–2.2M

Select item 491190810.

Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations

Shun Gu, Yuanyuan Tian, Xue Chen, Chen Zhao

Mol Vis. 2016; 22: 646–657. Published online 2016 Jun 16.

PMCID:: PMC4911908

Abstract Article PDF–3.0M

Select item 486695711.

Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa

SANMEI LIU, LAN XIE, JUN YUE, TAO MA, CHUNYAN PENG, BIYUAN QIU, ZHENGLIN YANG, JIYUN YANG

Int J Mol Med. 2016 Jun; 37(6): 1528–1534. Published online 2016 Apr 8. doi: 10.3892/ijmm.2016.2551

PMCID:: PMC4866957

Abstract Article PDF–835K

Select item 472629712.

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population

Yanan Di, Lulin Huang, Periasamy Sundaresan, Shujin Li, Ramasamy Kim, Bibhuti Ballav Saikia, Chao Qu, Xiong Zhu, Yu Zhou, Zhilin Jiang, Lin Zhang, Ying Lin, Dingding Zhang, Yuanfen Li, Houbin Zhang, Yibing Yin, Fang Lu, Xianjun Zhu, Zhenglin Yang

Sci Rep. 2016; 6: 19432. Published online 2016 Jan 20. doi: 10.1038/srep19432

PMCID:: PMC4726297

Abstract Article PDF–2.0M

Select item 467889813.

NGS-based Molecular diagnosis of 105 eyeGENE^® probands with Retinitis Pigmentosa

Zhongqi Ge, Kristen Bowles, Kerry Goetz, Hendrik P. N. Scholl, Feng Wang, Xinjing Wang, Shan Xu, Keqing Wang, Hui Wang, Rui Chen

Sci Rep. 2015; 5: 18287. Published online 2015 Dec 15. doi: 10.1038/srep18287

PMCID:: PMC4678898

Abstract Article PDF–707K

Select item 454830814.

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Sarah F. Barclay, Casey M. Rand, Lauren A. Borch, Lisa Nguyen, Paul A. Gray, William T. Gibson, Richard J. A. Wilson, Paul M. K. Gordon, Zaw Aung, Elizabeth M. Berry-Kravis, Diego Ize-Ludlow, Debra E. Weese-Mayer, N. Torben Bech-Hansen

Orphanet J Rare Dis. 2015; 10: 103. Published online 2015 Aug 25. doi: 10.1186/s13023-015-0314-x

PMCID:: PMC4548308

Abstract Article PDF–503K

Select item 449685715.

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

Chang-Ki Yoon, Nayoung K. D. Kim, Je-Gun Joung, Joo Young Shin, Jung Hyun Park, Hye-Hyun Eum, Hae-ock Lee, Woong-Yang Park, Hyeong Gon Yu

BMC Genomics. 2015; 16(1): 515. Published online 2015 Jul 9. doi: 10.1186/s12864-015-1723-x

PMCID:: PMC4496857

Abstract Article PDF–571K

Select item 418256016.

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

Satoshi Katagiri, Masakazu Akahori, Yuri Sergeev, Kazutoshi Yoshitake, Kazuho Ikeo, Masaaki Furuno, Takaaki Hayashi, Mineo Kondo, Shinji Ueno, Kazushige Tsunoda, Kei Shinoda, Kazuki Kuniyoshi, Yohinori Tsurusaki, Naomichi Matsumoto, Hiroshi Tsuneoka, Takeshi Iwata

PLoS One. 2014; 9(9): e108721. Published online 2014 Sep 30. doi: 10.1371/journal.pone.0108721