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Items: 1 to 20 of 21

1.
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa
Shannon M. Conley, Michael W. Stuck, Jamie N. Watson, Muna I. Naash
Hum Mol Genet. 2017 Feb 1; 26(3): 509–518. Published online 2017 Jan 4. doi: 10.1093/hmg/ddw408
PMCID:
PMC6075606
AbstractArticlePDF–1.2M
2.
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families
Kaylie D. Jones, Dianna K. Wheaton, Sara J. Bowne, Lori S. Sullivan, David G. Birch, Rui Chen, Stephen P. Daiger
Mol Vis. 2017; 23: 470–481. Published online 2017 Jul 20.
PMCID:
PMC5524430
AbstractArticlePDF–1.3M
3.
Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin.
S A Jordan, G J Farrar, R Kumar-Singh, P Kenna, M M Humphries, V Allamand, E M Sharp, P Humphries
Am J Hum Genet. 1992 Mar; 50(3): 634–639.
PMCID:
PMC1684267
SummaryPage BrowsePDF–923K
4.
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
AbstractArticlePDF–1.1M
5.
A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews
Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, Roberto Colombo, Ephrat Bril, Tom Rabinowitz, Alona Yaakobi, Eedy Mezer, Rina Leibu, Beatrice Tiosano, Noam Shomron, Itay Chowers, Eyal Banin, Dror Sharon, Tamar Ben-Yosef
Mol Vis. 2019; 25: 155–164. Published online 2019 Feb 22.
PMCID:
PMC6386512
AbstractArticlePDF–1.9M
6.
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy
Anna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, Zuzanna Niedziela, Rafal Ploski, Malgorzata Rydzanicz, Maciej Sykulski, Jaroslaw Kociecki, Nicole Weisschuh, Susanne Kohl, Saskia Biskup, Bernd Wissinger, Maciej R. Krawczynski
Mol Vis. 2018; 24: 326–339. Published online 2018 Apr 26.
PMCID:
PMC5937672
AbstractArticlePDF–1.7M
7.
ASXL1 mutation correction by CRISPR/Cas9 restores gene function in leukemia cells and increases survival in mouse xenografts
Simona Valletta, Hamid Dolatshad, Matthias Bartenstein, Bon Ham Yip, Erica Bello, Shanisha Gordon, Yiting Yu, Jacqueline Shaw, Swagata Roy, Laura Scifo, Anna Schuh, Andrea Pellagatti, Tudor A. Fulga, Amit Verma, Jacqueline Boultwood
Oncotarget. 2015 Dec 29; 6(42): 44061–44071. Published online 2015 Nov 26. doi: 10.18632/oncotarget.6392
PMCID:
PMC4792541
AbstractArticlePDF–3.5M
8.
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
AbstractArticlePDF–707K
9.
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing
Liping Yang, Hui Cui, Xiaobei Yin, Hongliang Dou, Lin Zhao, Ningning Chen, Jinlu Zhang, Huirong Zhang, Genlin Li, Zhizhong Ma
PLoS One. 2015; 10(10): e0140684. Published online 2015 Oct 23. doi: 10.1371/journal.pone.0140684
PMCID:
PMC4619688
AbstractArticlePDF–1.8M
10.
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned
Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso
PLoS One. 2015; 10(7): e0133624. Published online 2015 Jul 21. doi: 10.1371/journal.pone.0133624
PMCID:
PMC4509755
AbstractArticlePDF–823K
11.
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
AbstractArticlePDF–571K
12.
Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions
Jacques Zaneveld, Sorath Siddiqui, Huajin Li, Xia Wang, Hui Wang, Keqing Wang, Hui Li, Huanan Ren, Irma Lopez, Allison Dorfman, Ayesha Khan, Feng Wang, Jason Salvo, Violet Gelowani, Yumei Li, Ruifang Sui, Robert Koenekoop, Rui Chen
Genet Med. Author manuscript; available in PMC 2016 Apr 1.
Published in final edited form as: Genet Med. 2015 Apr; 17(4): 262–270. Published online 2014 Dec 4. doi: 10.1038/gim.2014.174
PMCID:
PMC4385427
AbstractArticlePDF–850K
13.
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland
Li Zhao, Feng Wang, Hui Wang, Yumei Li, Sharon Alexander, Keqing Wang, Colin E. Willoughby, Jacques E. Zaneveld, Lichun Jiang, Zachry T. Soens, Philip Earle, David Simpson, Giuliana Silvestri, Rui Chen
Hum Genet. Author manuscript; available in PMC 2015 Aug 1.
Published in final edited form as: Hum Genet. 2015 Feb; 134(2): 217–230. Published online 2014 Dec 4. doi: 10.1007/s00439-014-1512-7
PMCID:
PMC4347882
AbstractArticlePDF–1.1M
14.
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Feng Wang, Hui Wang, Han-Fang Tuan, Duy H. Nguyen, Vincent Sun, Vafa Keser, Sara J. Bowne, Lori S. Sullivan, Hongrong Luo, Ling Zhao, Xia Wang, Jacques E. Zaneveld, Jason S. Salvo, Sorath Siddiqui, Louise Mao, Dianna K. Wheaton, David G. Birch, Kari E. Branham, John R. Heckenlively, Cindy Wen, Ken Flagg, Henry Ferreyra, Jacqueline Pei, Ayesha Khan, Huanan Ren, Keqing Wang, Irma Lopez, Raheel Qamar, Juan C. Zenteno, Raul Ayala-Ramirez, Beatriz-Buentello-Volante, Qing Fu, David A. Simpson, Yumei Li, Ruifang Sui, Giuliana Silvestri, Stephen P. Daiger, Robert K. Koenekoop, Kang Zhang, Rui Chen
Hum Genet. Author manuscript; available in PMC 2015 Mar 1.
Published in final edited form as: Hum Genet. 2014 Mar; 133(3): 331–345. Published online 2013 Oct 24. doi: 10.1007/s00439-013-1381-5
PMCID:
PMC3945441
AbstractArticlePDF–1.6M
15.
Cone Structure in Retinal Degeneration Associated with Mutations in the peripherin/RDS Gene
Jacque L. Duncan, Katherine E. Talcott, Kavitha Ratnam, Sanna M. Sundquist, Anya S. Lucero, Shelley Day, Yuhua Zhang, Austin Roorda
Invest Ophthalmol Vis Sci. 2011 Mar; 52(3): 1557–1566. Published online 2011 Mar 21. doi: 10.1167/iovs.10-6549
PMCID:
PMC3101697
AbstractArticlePDF–5.8M
16.
A New Strategy to Identify and Annotate Human RPE-Specific Gene Expression
Judith C. Booij, Jacoline B. ten Brink, Sigrid M. A. Swagemakers, Annemieke J. M. H. Verkerk, Anke H. W. Essing, Peter J. van der Spek, Arthur A. B. Bergen
PLoS One. 2010; 5(5): e9341. Published online 2010 May 7. doi: 10.1371/journal.pone.0009341
PMCID:
PMC2866542
AbstractArticlePDF–1.3M
17.
Functional annotation of the human retinal pigment epithelium transcriptome
Judith C Booij, Simone van Soest, Sigrid MA Swagemakers, Anke HW Essing, Annemieke JMH Verkerk, Peter J van der Spek, Theo GMF Gorgels, Arthur AB Bergen
BMC Genomics. 2009; 10: 164. Published online 2009 Apr 20. doi: 10.1186/1471-2164-10-164
PMCID:
PMC2679759
AbstractArticlePDF–1.3M
18.
Prevalence of Mutations Causing Retinitis Pigmentosa and Other Inherited Retinopathies
Melanie M. Sohocki, Stephen P. Daiger, Sara J. Bowne, Joseph A. Rodriquez, Hope Northrup, John R. Heckenlively, David G. Birch, Helen Mintz-Hittner, Richard S. Ruiz, Richard A. Lewis, David A. Saperstein, Lori S. Sullivan
Hum Mutat. Author manuscript; available in PMC 2008 Nov 19.
Published in final edited form as: Hum Mutat. 2001; 17(1): 42–51. doi: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K
PMCID:
PMC2585107
AbstractArticlePDF–65K
19.
Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa
B P Leroy, A Kailasanathan, J‐J De Laey, G C M Black, F D C Manson
Br J Ophthalmol. 2007 Jan; 91(1): 89–93. Published online 2006 Aug 17. doi: 10.1136/bjo.2006.101915
PMCID:
PMC1857593
AbstractArticlePDF–974K
20.
Detection and Assignment of Mutations and Minihaplotypes in Human DNA Using Peptide Mass Signature Genotyping (PMSG): Application to the Human RDS/Peripherin Gene
Cheryl A. Telmer, Adam R. Retchless, Ashley D. Kinsey, Yvette Conley, Brian Rigatti, Michael B. Gorin, Jonathan W. Jarvik
Genome Res. 2003 Aug; 13(8): 1944–1951. doi: 10.1101/gr.995103
Correction in:
Genome Res. 2003 Dec; 13(12): 2759.
PMCID:
PMC403787
AbstractArticlePDF–383K

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