Results 171 to 180 of about 72,857 (290)

A synergistic antioxidant nanozyme platform for corneal neovascularization treatment. [PDF]

Nanoscale Adv
Su M, Ye T, Yuan W, Zhang B, Ye J, Chen C, Chu C.   +6 more
europepmc   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Machine Learning approaches for the detection of disease-causing variants in whole-genome data need to address the expression of functional genes. [PDF]

PLoS One
Mapstone C, Handl J, Talavera D.
europepmc   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Association of <i>MAX</i> Copy Number Variation with Morphometric Traits in Chinese Cattle. [PDF]

Animals (Basel)
Lv S, Li B, Fan S, Wang X, Liu N, Cao X, Qian P, Cheng J.   +7 more
europepmc   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Bcl-2-Dependent Persistence of Mononuclear Phagocytes Promotes Ocular Fibrosis. [PDF]

Int J Mol Sci
Song YS, Wang S, Darjatmoko SR, Sheibani N, Sorenson CM.   +4 more
europepmc   +1 more source

Early‐Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Nikolai Gil D. Reyes, Daniel G. Di Luca, Ivan Martinez‐Valbuena, Erik Boot, Maria Corral, Ryan K.C. Yuen, Connie Marras, Anthony E. Lang, Anne S. Bassett   +8 more
wiley   +1 more source

Reduced Motor Preparation and Altered EEG Signatures of Prediction in Autistic Adults. [PDF]

Eur J Neurosci
Bagheri S, Cardinaux A, Bungert L, Li CE, O'Brien AM, Sinha P, Cannon J.   +6 more
europepmc   +1 more source

Genomics and epigenomics of tissue repair: Implications for personalized medicine

Precision Medical Sciences, EarlyView.
Genomic and epigenomic mechanisms govern tissue repair and regeneration through dynamic regulation of inflammation, cell fate, and extracellular matrix remodeling. The integration of multi‐omics, artificial intelligence, and precision regenerative therapies enables biomarker‐driven, personalized approaches to enhance healing and minimize fibrosis ...
Jharna Medhi, Chandrashekar Thalluri, Sarad Pawar Naik Bukke, Piyali Dey, Mallikarjun Vasam, Ananda Kumar Chettupalli, Swetha Kumari Koduru, Gali Avinash Kumar   +7 more
wiley   +1 more source