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Items: 1 to 20 of 47

1.
Preparations of recombinant HIV‐1 p66 antigen to improve the specificity of immune complex transfer enzyme immunoassay of antibody IgG to HIV‐1 reverse transcriptase
Kazuya Hashinaka, Ichiro Nishikata, Seiichi Hashida, Akio Adachi, Shinichi Oka, Eiji Ishikawa
J Clin Lab Anal. 2000; 14(4): 169–179. Published online 2000 Jul 18. doi: 10.1002/1098-2825(2000)14:4<169::AID-JCLA6>3.0.CO;2-E
PMCID:
PMC6807956
ArticlePDF–203K
2.
Genetic Analysis of a Unique Bacteriocin, Smb, Produced by Streptococcus mutans GS5
Hideo Yonezawa, Howard K. Kuramitsu
Antimicrob Agents Chemother. 2005 Feb; 49(2): 541–548. doi: 10.1128/AAC.49.2.541-548.2005
PMCID:
PMC547247
ArticlePDF–264K
3.
Recombinant p51 as Antigen in an Immune Complex Transfer Enzyme Immunoassay of Immunoglobulin G Antibody to Human Immunodeficiency Virus Type 1
Kazuya Hashinaka, Seiichi Hashida, Ichiro Nishikata, Akio Adachi, Shinichi Oka, Eiji Ishikawa
Clin Diagn Lab Immunol. 2000 Nov; 7(6): 967–976. doi: 10.1128/cdli.7.6.967-976.2000
PMCID:
PMC95995
ArticlePDF–198K
4.
A nuclear protein associated with human cancer cells binds preferentially to a human repetitive DNA sequence.
M L Law, J Z Gao, T T Puck
Proc Natl Acad Sci U S A. 1989 Nov; 86(21): 8472–8476. doi: 10.1073/pnas.86.21.8472
PMCID:
PMC298304
SummaryPage BrowsePDF–1.2M
5.
RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15
Matthew D. Benson, Souvick Mukherjee, Aime R. Agather, Delphine Blain, Denise Cunningham, Robert Mays, Xun Sun, Tiansen Li, Robert B. Hufnagel, Brian P. Brooks, Laryssa A. Huryn, Wadih M. Zein, Catherine A. Cukras
Invest Ophthalmol Vis Sci. 2023 Sep; 64(12): 19. Published online 2023 Sep 11. doi: 10.1167/iovs.64.12.19
PMCID:
PMC10501488
ArticlePDF–2.7M
6.
Exacerbated response to oxidative stress in the Retinitis Pigmentosa CerklKD/KO mouse model triggers retinal degeneration pathways upon acute light stress
Rocío García-Arroyo, Elena B. Domènech, Carlos Herrera-Úbeda, Miguel A. Asensi, Cristina Núñez de Arenas, José M. Cuezva, Jordi Garcia-Fernàndez, Federico V. Pallardó, Serena Mirra, Gemma Marfany
Redox Biol. 2023 Oct; 66: 102862. Published online 2023 Aug 28. doi: 10.1016/j.redox.2023.102862
PMCID:
PMC10491808
ArticlePDF–9.9M
7.
Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures
Christine Kay, Isabelle Audo, Christel Naujoks, Claudio Spera, M. Dominik Fischer, Jane Green, Todd Durham, Nicola Williamson, Helena Bradley, Melissa Barclay, Joel Sims, Judit Banhazi, Francesco Patalano
J Patient Rep Outcomes. 2023 Dec; 7: 74. Published online 2023 Jul 19. doi: 10.1186/s41687-023-00610-x
PMCID:
PMC10356708
ArticlePDF–1.9M
8.
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing
Richard Sather, III, Jacie Ihinger, Michael Simmons, Tahsin Khundkar, Glenn P. Lobo, Sandra R. Montezuma
Int J Mol Sci. 2023 Jul; 24(13): 10895. Published online 2023 Jun 30. doi: 10.3390/ijms241310895
PMCID:
PMC10341662
ArticlePDF–2.6M
9.
Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy
Katja Čadonič, Jana Sajovic, Marko Hawlina, Ana Fakin
Genes (Basel) 2023 Mar; 14(3): 652. Published online 2023 Mar 5. doi: 10.3390/genes14030652
PMCID:
PMC10048357
ArticlePDF–3.9M
10.
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
ArticlePDF–1.8M
11.
Fetal ciliopathies: a retrospective observational single-center study
Corinna Simonini, Anne Floeck, Brigitte Strizek, Andreas Mueller, Ulrich Gembruch, Annegret Geipel
Arch Gynecol Obstet. 2022; 306(1): 71–83. Published online 2021 Oct 1. doi: 10.1007/s00404-021-06265-7
PMCID:
PMC9300526
ArticlePDF–1.4M
12.
Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa
Yuchen Lin, Christine L. Xu, Mark P. Breazzano, Akemi J. Tanaka, Joseph Ryu, Sarah R. Levi, Ke Yao, Janet R. Sparrow, Stephen H. Tsang
Ophthalmic Genet. Author manuscript; available in PMC 2022 May 5.
Published in final edited form as: Ophthalmic Genet. 2020 Feb; 41(1): 26–30. Published online 2020 Feb 13. doi: 10.1080/13816810.2020.1723116
PMCID:
PMC9070555
ArticlePDF–1.2M
13.
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
ArticlePDF–1008K
14.
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy
Manar Aoun, Ilaria Passerini, Pietro Chiurazzi, Marianthi Karali, Irene De Rienzo, Giovanna Sartor, Vittoria Murro, Natalia Filimonova, Marco Seri, Sandro Banfi
Int J Mol Sci. 2021 Jul; 22(13): 7207. Published online 2021 Jul 5. doi: 10.3390/ijms22137207
PMCID:
PMC8268668
ArticlePDF–646K
15.
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome
Leonardo Colombo, Paolo E. Maltese, Marco Castori, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, Paolo Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti
Invest Ophthalmol Vis Sci. 2021 Feb; 62(2): 13. Published online 2021 Feb 12. doi: 10.1167/iovs.62.2.13
PMCID:
PMC7884295
ArticlePDF–1.2M
16.
Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa
Yan Sun, Wei Li, Jian‐kang Li, Zhuo‐shi Wang, Jin‐yue Bai, Ling Xu, Bo Xing, Wen Yang, Zi‐wei Wang, Lu‐sheng Wang, Wei He, Fang Chen
Mol Genet Genomic Med. 2020 Apr; 8(4): e1184. Published online 2020 Feb 26. doi: 10.1002/mgg3.1184
PMCID:
PMC7196472
ArticlePDF–787K
17.
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing
Juan C. Zenteno, Leopoldo A. García‐Montaño, Marisa Cruz‐Aguilar, Josué Ronquillo, Agustín Rodas‐Serrano, Luis Aguilar‐Castul, Rodrigo Matsui, Carlos I. Vencedor‐Meraz, Rocío Arce‐González, Federico Graue‐Wiechers, Mario Gutiérrez‐Paz, Tatiana Urrea‐Victoria, Ulises de Dios Cuadras, Oscar F. Chacón‐Camacho
Mol Genet Genomic Med. 2020 Jan; 8(1): 10.1002/mgg3.1044. Published online 2019 Nov 17. doi: 10.1002/mgg3.1044
PMCID:
PMC6978239
ArticlePDF–1.3M
18.
Spectrum, frequency, and genotype–phenotype of mutations in SPATA7
Xueshan Xiao, Wenmin Sun, Shiqiang Li, Xiaoyun Jia, Qingjiong Zhang
Mol Vis. 2019; 25: 821–833. Published online 2019 Dec 2.
PMCID:
PMC6925664
ArticlePDF–1.8M
19.
The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations
Miriam Ehrenberg, Shirel Weiss, Naama Orenstein, Nitza Goldenberg-Cohen, Tamar Ben-Yosef
Mol Vis. 2019; 25: 691–702. Published online 2019 Nov 14.
PMCID:
PMC6857777
ArticlePDF–1.1M
20.
Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration
Leonardo Murgiano, Doreen Becker, Dina Torjman, Jessica K. Niggel, Ausra Milano, Cheryl Cullen, Rui Feng, Fan Wang, Vidhya Jagannathan, Sue Pearce-Kelling, Martin L. Katz, Tosso Leeb, Gustavo D. Aguirre
G3 (Bethesda) 2019 Feb; 9(2): 425–437. Published online 2018 Dec 12. doi: 10.1534/g3.118.200859
PMCID:
PMC6385984
ArticlePDF–1.9M

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