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Items: 1 to 20 of 114

1.
Validity of Mehrviru® and Sacace® in molecular detection of HPV: a latent class analysis
Hadi Nowrozi, Fahimeh Ramezani Tehrani, Mahmood Soleimanidodaran, Dariush Hamedi, Masoud Solaymani-Dodaran
BMC Infect Dis. 2024; 24: 1309. Published online 2024 Nov 16. doi: 10.1186/s12879-024-10121-9
PMCID:
PMC11569601
AbstractArticlePDF–951K
2.
NMNAT1 Is Essential for Human iPS Cell Differentiation to the Retinal Lineage
Hiroshi Kuribayashi, Toshiro Iwagawa, Akira Murakami, Takeshi Kawamura, Yutaka Suzuki, Sumiko Watanabe
Invest Ophthalmol Vis Sci. 2024 Oct; 65(12): 37. Published online 2024 Oct 24. doi: 10.1167/iovs.65.12.37
PMCID:
PMC11512567
AbstractArticlePDF–4.6M
3.
Comparative evaluation of plasma biomarkers of Schistosoma haematobium infection in endemic populations from Burkina Faso
Mireille Ouedraogo, Jana Christina Hey, Stan Hilt, Veronica Rodriguez Fernandez, Doris Winter, Ravo Razafindrakoto, Pytsje T. Hoekstra, Youssouf Kabore, Marco Fornili, Laura Baglietto, Issa Nebie, Govert J. van Dam, Paul L. A. M. Corstjens, Daniela Fusco, David Modiano, Fabrizio Bruschi, Valentina D. Mangano
PLoS Negl Trop Dis. 2024 Sep; 18(9): e0012104. Published online 2024 Sep 18. doi: 10.1371/journal.pntd.0012104
PMCID:
PMC11441675
AbstractArticlePDF–1.1M
4.
Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis
Yunyu Zhou, Lijuan Huang, Yan Xie, Wen Liu, Shasha Zhang, Lili Liu, Ping Lin, Ningdong Li
Graefes Arch Clin Exp Ophthalmol. 2024; 262(9): 3029–3038. Published online 2024 Apr 25. doi: 10.1007/s00417-024-06450-9
PMCID:
PMC11377616
AbstractArticlePDF–2.4M
5.
Central visual pathways affected by degenerative retinal disease before and after gene therapy
Manzar Ashtari, Jean Bennett, David A Leopold
Brain. 2024 Sep; 147(9): 3234–3246. Published online 2024 Mar 28. doi: 10.1093/brain/awae096
PMCID:
PMC11370797
AbstractArticlePDF–974K
6.
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium
Pam A. T. Heutinck, L. Ingeborgh van den Born, Maikel Vermeer, Adriana I. Iglesias Gonzales, Carel B. Hoyng, Jan Willem R. Pott, Hester Y. Kroes, Mary J. van Schooneveld, Camiel J. F. Boon, Maria M. van Genderen, Astrid S. Plomp, Yvonne de Jong-Hesse, Michelle B. van Egmond-Ebbeling, Lies H. Hoefsloot, Arthur A. Bergen, Caroline C. W. Klaver, Magda A. Meester-Smoor, Alberta A. H. J. Thiadens, Virginie J. M. Verhoeven
Invest Ophthalmol Vis Sci. 2024 Aug; 65(10): 40. Published online 2024 Aug 27. doi: 10.1167/iovs.65.10.40
Correction in:
Invest Ophthalmol Vis Sci. 2024 Sep; 65(11): 26.
PMCID:
PMC11361385
AbstractArticlePDF–1.6M
7.
Distinctive duodenal microbiomes and bile acid profiles in duodenal tumor patients revealed by prospective observational study
Yoko Kubosawa, Tomohisa Sujino, Kentaro Miyamoto, Atsuto Kayashima, Daisuke Minezaki, Kohei Morioka, Kentaro Iwata, Kurato Miyazaki, Teppei Masunaga, Mari Mizutani, Teppei Akimoto, Yusaku Takatori, Noriko Matsuura, Atsushi Nakayama, Kaoru Takabayashi, Nobuhiro Nakamoto, Akira Honda, Motohiko Kato, Naohisa Yahagi, Takanori Kanai
Sci Rep. 2024; 14: 18705. Published online 2024 Aug 12. doi: 10.1038/s41598-024-69820-7
PMCID:
PMC11319767
AbstractArticlePDF–1.3M
8.
Evaluation of chimeric recombinant antigens for the serodiagnosis of Trypanosoma cruzi in dogs: a promising tool for Chagas disease surveillance
Natália Dantas Fontes, Fernanda Lopes Habib, Leonardo Maia Leony, Natália Erdens Maron Freitas, Ângelo Antônio Oliveira Silva, Filipe Dantas-Torres, Kamila Gaudêncio da Silva Sales, Antônia Cláudia Jácome da Câmara, Vicente Toscano de Araújo-Neto, Leila Denise Alves Ferreira Amorim, Paola Alejandra Fiorani Celedon, Nilson Ivo Tonin Zanchin, Fred Luciano Neves Santos
Parasit Vectors. 2024; 17: 305. Published online 2024 Jul 15. doi: 10.1186/s13071-024-06376-5
PMCID:
PMC11251128
AbstractArticlePDF–2.9M
9.
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences
Rene Moya, Clémentine Angée, Sylvain Hanein, Fabienne Jabot-Hanin, Josseline Kaplan, Isabelle Perrault, Jean-Michel Rozet, Lucas Fares Taie
Int J Mol Sci. 2024 Jun; 25(11): 6151. Published online 2024 Jun 3. doi: 10.3390/ijms25116151
PMCID:
PMC11172861
AbstractArticlePDF–663K
10.
Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis
Ahmad Daher, Malak Banjak, Jinane Noureldine, Joseph Nehme, Said El Shamieh
BMC Ophthalmol. 2024; 24: 167. Published online 2024 Apr 15. doi: 10.1186/s12886-024-03419-4
PMCID:
PMC11017593
AbstractArticlePDF–3.6M
11.
Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials
Yili Jin, Songshan Li, Zhaoxin Jiang, Limei Sun, Li Huang, Ting Zhang, Xinyu Liu, Xiaoyan Ding
Invest Ophthalmol Vis Sci. 2024 Mar; 65(3): 11. Published online 2024 Mar 11. doi: 10.1167/iovs.65.3.11
PMCID:
PMC10929744
AbstractArticlePDF–2.8M
12.
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History
Malena Daich Varela, Michalis Georgiou, Yahya Alswaiti, Jamil Kabbani, Kaoru Fujinami, Yu Fujinami-Yokokawa, Shaheeni Khoda, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides
Am J Ophthalmol. 2023 Feb; 246: 107–121. doi: 10.1016/j.ajo.2022.09.002
PMCID:
PMC10555856
AbstractArticlePDF–2.2M
13.
Foveal Hypoplasia in CRB1-Related Retinopathies
Ana Catalina Rodriguez-Martinez, Bethany Elora Higgins, Vijay Tailor-Hamblin, Samantha Malka, Riccardo Cheloni, Alexander Mark Collins, John Bladen, Robert Henderson, Mariya Moosajee
Int J Mol Sci. 2023 Sep; 24(18): 13932. Published online 2023 Sep 11. doi: 10.3390/ijms241813932
PMCID:
PMC10531165
AbstractArticlePDF–1.4M
14.
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort
Ditta Zobor, Britta Brühwiler, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Int J Mol Sci. 2023 May; 24(10): 8915. Published online 2023 May 17. doi: 10.3390/ijms24108915
PMCID:
PMC10219005
AbstractArticlePDF–5.1M
15.
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans
Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon Woo
Genes (Basel) 2023 May; 14(5): 1057. Published online 2023 May 8. doi: 10.3390/genes14051057
PMCID:
PMC10218017
AbstractArticlePDF–3.7M
16.
Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCACEP290 patients
Andrea L. Minella, Kristina Narfström Wiechel, Simon M. Petersen‐Jones
Vet Ophthalmol. 2023 Jan; 26(1): 4–11. Published online 2022 Dec 9. doi: 10.1111/vop.13052
PMCID:
PMC10107307
AbstractArticlePDF–1.0M
17.
Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS
Anna Skorczyk-Werner, Anna Sowińska-Seidler, Anna Wawrocka, Joanna Walczak-Sztulpa, Maciej Robert Krawczyński
J Appl Genet. 2023; 64(1): 89–104. Published online 2022 Nov 12. doi: 10.1007/s13353-022-00733-9
PMCID:
PMC9837007
AbstractArticlePDF–2.3M
18.
Loss-of-function approach using mouse retinal explants showed pivotal roles of Nmnat2 in early and middle stages of retinal development
Hiroshi Kuribayashi, Miku Katahira, Makoto Aihara, Yutaka Suzuki, Sumiko Watanabe
Mol Biol Cell. 2023 Jan 1; 34(1): ar4. Published online 2022 Dec 15. doi: 10.1091/mbc.E22-03-0078
PMCID:
PMC9816650
AbstractArticlePDF–9.3M
19.
Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence
Masha Kolesnikova, Jose Ronaldo Lima de Carvalho, Jr., Rait Parmann, Angela H. Kim, Vinit B. Mahajan, Stephen H. Tsang, Janet R. Sparrow
Mol Genet Genomic Med. 2022 Nov; 10(11): e2038. Published online 2022 Oct 12. doi: 10.1002/mgg3.2038
PMCID:
PMC9651599
AbstractArticlePDF–1.4M
20.
Microseek: A Protein-Based Metagenomic Pipeline for Virus Diagnostic and Discovery
Philippe Pérot, Thomas Bigot, Sarah Temmam, Béatrice Regnault, Marc Eloit
Viruses. 2022 Sep; 14(9): 1990. Published online 2022 Sep 8. doi: 10.3390/v14091990
PMCID:
PMC9500916
AbstractArticlePDF–1.9M

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