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Items: 1 to 20 of 460

1.
Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes
Zainab Akhtar, Sumaira Altaf, Yumei Li, Sana Bibi, Jamal Shah, Kiran Afshan, Meng Wang, Hafiz Muhammad Jafar Hussain, Nadeem Qureshi, Rui Chen, Sabika Firasat
Genes (Basel) 2024 Dec; 15(12): 1646. Published online 2024 Dec 21. doi: 10.3390/genes15121646
PMCID:
PMC11728111
ArticlePDF–2.6M
2.
A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome
Masafumi Miyata, Arisa Kojima, Yuri Kawai, Hidetoshi Uchida, Hiroko Boda, Naoko Ishihara, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi
Hum Genome Var. 2025; 12: 2. Published online 2025 Jan 6. doi: 10.1038/s41439-024-00307-7
PMCID:
PMC11704066
ArticlePDF–680K
3.
Nucleosome wrapping states encode principles of 3D genome organization
Zengqi Wen, Ruixin Fang, Ruxin Zhang, Xinqian Yu, Fanli Zhou, Haizhen Long
Nat Commun. 2025; 16: 352. Published online 2025 Jan 3. doi: 10.1038/s41467-024-54735-8
PMCID:
PMC11699143
ArticlePDF–9.4M
4.
Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype
Anna Esteve-Garcia, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Cinthia Aguilera, Estefania Cobos
Genes (Basel) 2024 Dec; 15(12): 1584. Published online 2024 Dec 9. doi: 10.3390/genes15121584
PMCID:
PMC11675463
ArticlePDF–2.2M
5.
Lung Ultrasound in Neonatal Respiratory Distress Syndrome: A Narrative Review of the Last 10 Years
Federico Costa, Annachiara Titolo, Mandy Ferrocino, Eleonora Biagi, Valentina Dell’Orto, Serafina Perrone, Susanna Esposito
Diagnostics (Basel) 2024 Dec; 14(24): 2793. Published online 2024 Dec 12. doi: 10.3390/diagnostics14242793
PMCID:
PMC11674376
ArticlePDF–266K
6.
Inherited Retinal Degenerations and Non-Neovascular Age-Related Macular Degeneration: Progress and Unmet Needs
Jacque L. Duncan, Angela Bowman, Amy Laster, Claire Gelfman, David G. Birch, Shannon E. Boye, Stephen P. Daiger, Lucian del Priore, Donald J. Zack, James T. Handa, the Foundation Fighting Blindness Scientific Advisory Board
Transl Vis Sci Technol. 2024 Dec; 13(12): 28. Published online 2024 Dec 17. doi: 10.1167/tvst.13.12.28
PMCID:
PMC11654773
ArticlePDF–441K
7.
Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel
Nicole Midgley, George Rebello, Lara K. Holtes, Raj Ramesar, Lisa Roberts
Mol Genet Genomic Med. 2024 Dec; 12(12): e70046. Published online 2024 Dec 16. doi: 10.1002/mgg3.70046
PMCID:
PMC11647334
ArticlePDF–1.0M
8.
Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy
Krishna Damodar, Gregor Dubois, Laurent Guillou, Daria Mamaeva, Marie Pequignot, Nejla Erkilic, Carla Sanjurjo-Soriano, Hassan Boukhaddaoui, Florence Bernex, Béatrice Bocquet, Jérôme Vialaret, Yvan Arsenijevic, T. Michael Redmond, Christopher Hirtz, Isabelle Meunier, Philippe Brabet, Vasiliki Kalatzis
Mol Ther. 2024 Dec 4; 32(12): 4319–4336. Published online 2024 Oct 9. doi: 10.1016/j.ymthe.2024.10.004
PMCID:
PMC11638835
ArticlePDF–5.5M
9.
Gestational diabetes mellitus and risk of neonatal respiratory distress syndrome: a systematic review and meta-analysis
Fang Yang, Hua Liu, Cuixia Ding
Diabetol Metab Syndr. 2024; 16: 294. Published online 2024 Dec 5. doi: 10.1186/s13098-024-01539-x
PMCID:
PMC11619150
ArticlePDF–1.7M
10.
Microglia induce an interferon‐stimulated gene expression profile in glioblastoma and increase glioblastoma resistance to temozolomide
Mia Dahl Sørensen, Rikke Frydendahl Sick Olsen, Mark Burton, Stephanie Kavan, Stine Asferg Petterson, Mads Thomassen, Torben Arvid Kruse, Morten Meyer, Bjarne Winther Kristensen
Neuropathol Appl Neurobiol. 2024 Dec; 50(6): e13016. Published online 2024 Nov 18. doi: 10.1111/nan.13016
PMCID:
PMC11618491
ArticlePDF–6.9M
11.
Efficacy and safety of different noninvasive ventilation strategies for postextubation respiratory support in Neonatal Respiratory Distress Syndrome: a systematic review and network meta-analysis
Jiayi Yang, Hua Mei, Xiaoli Wang, Jie Zhang, Mengyue Huo, Chun Xin
Front Pediatr. 2024; 12: 1435518. Published online 2024 Nov 15. doi: 10.3389/fped.2024.1435518
PMCID:
PMC11607678
ArticlePDF–51M
12.
Retinal Proteome Profiling of Inherited Retinal Degeneration Across Three Different Mouse Models Suggests Common Drug Targets in Retinitis Pigmentosa
Ahmed B. Montaser, Fangyuan Gao, Danielle Peters, Katri Vainionpää, Ning Zhibin, Dorota Skowronska-Krawczyk, Daniel Figeys, Krzysztof Palczewski, Henri Leinonen
Mol Cell Proteomics. 2024 Nov; 23(11): 100855. Published online 2024 Oct 9. doi: 10.1016/j.mcpro.2024.100855
PMCID:
PMC11602984
ArticlePDF–2.3M
13.
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease
Claudia S. Priglinger, Maximilian J. Gerhardt, Siegfried G. Priglinger, Markus Schaumberger, Teresa M. Neuhann, Hanno J. Bolz, Yasmin Mehraein, Guenther Rudolph
Int J Mol Sci. 2024 Nov; 25(22): 12259. Published online 2024 Nov 14. doi: 10.3390/ijms252212259
PMCID:
PMC11595089
ArticlePDF–1.5M
14.
A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa
Maria Abu Elasal, Samer Khateb, Daan M. Panneman, Susanne Roosing, Frans P. M. Cremers, Eyal Banin, Dror Sharon, Asodu Sandeep Sarma
Genes (Basel) 2024 Nov; 15(11): 1363. Published online 2024 Oct 24. doi: 10.3390/genes15111363
PMCID:
PMC11593374
ArticlePDF–3.3M
15.
Low Prognostic Nutritional Index (PNI) Level is Associated with an Increased Risk of Neonatal Respiratory Distress Syndrome in Preterm Infants with Different Gestational Ages: A Retrospective Study
Liudan Huang, Xuexin Chen, Yuhua Zhang
Int J Gen Med. 2024; 17: 5219–5231. Published online 2024 Nov 12. doi: 10.2147/IJGM.S486224
PMCID:
PMC11568769
ArticlePDF–891K
16.
A study of machine learning to predict NRDS severity based on lung ultrasound score and clinical indicators
Chunyan Huang, Xiaoming Ha, Yanfang Cui, Hongxia Zhang
Front Med (Lausanne) 2024; 11: 1481830. Published online 2024 Nov 1. doi: 10.3389/fmed.2024.1481830
PMCID:
PMC11568467
ArticlePDF–819K
17.
俯卧位在新生儿呼吸窘迫综合征有创呼吸支持中的临床研究
柴 凤云, 仝 实, 韩 梅, 胡 骁, 朱 春雪, 高 翔羽
Zhongguo Dang Dai Er Ke Za Zhi. 2024 Jun 15; 26(6): 619–624. Chinese. doi: 10.7499/j.issn.1008-8830.2312126
PMCID:
PMC11562053
ArticlePDF–645K
18.
Association between glycated hemoglobin and the risk of neonatal respiratory distress syndrome in preterm premature rupture of membranes pregnancies
Hui Chen, Qin Tan, Siya Lai, Huiyi Mai, Dongna Wang
Sci Rep. 2024; 14: 27122. Published online 2024 Nov 7. doi: 10.1038/s41598-024-78679-7
PMCID:
PMC11544212
ArticlePDF–1.5M
19.
Inherited retinal dystrophies and orphan designations in the European Union
Jane Moseley, Tim Leest, Kristina Larsson, Armando Magrelli, Violeta Stoyanova-Beninska
Eur J Ophthalmol. 2024 Nov; 34(6): 1631–1641. Published online 2024 Mar 18. doi: 10.1177/11206721241236214
PMCID:
PMC11542323
ArticlePDF–1.1M
20.
A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration
Breyanna L Cavanaugh, Michelle L Milstein, R Casey Boucher, Sharon X Tan, Mario W Hanna, Adam Seidel, Rikard Frederiksen, Thomas L Saunders, Alapakkam P Sampath, Kenneth P Mitton, Dao-Qi Zhang, Andrew F X Goldberg
Hum Mol Genet. 2024 Nov 1; 33(21): 1916–1928. Published online 2024 Sep 5. doi: 10.1093/hmg/ddae128
PMCID:
PMC11540925
ArticlePDF–1.9M

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