Results 51 to 60 of about 1,305 (131)

Incremental yield of exome sequencing over standard prenatal testing in structurally normal fetuses: systematic review and meta‐analysis

Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 5, Page 552-559, May 2025.
ABSTRACT Objective To critically review the literature and synthesize evidence on the incremental yield of prenatal exome sequencing (PES) in fetuses with an apparently normal phenotype with a normal G‐banded karyotype or chromosomal microarray (CMA).
A. Sotiriadis, E. Demertzidou, A. Ververi, E. Tsakmaki, C. Chatzakis, F. Mone   +5 more
wiley   +1 more source

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders

Developmental Medicine &Child Neurology, Volume 67, Issue 5, Page 618-629, May 2025.
Detailed neurobehavioral phenotyping using the neurobehavioral evaluation tool (NET) caregiver‐report survey scales was conducted across seven study groups. This original article is commented by Dieu and Briganti on pages 559–560 of this issue. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16204 Abstract Aim To examine ...
Thomas W. Frazier, Robyn M. Busch, Patricia Klaas, Katherine Lachlan, Eva Loth, Constance Smith‐Hicks, Mustafa Sahin, Antonio Y. Hardan, Mirko Uljarevic, NET Development Project Team, Ethan Crowley, Shafali Jeste, Alexander Kolevzon, Jacqueline Harris, Tom Pepper, Kristin Anthony, J. Michael Graglia, Kathryn Helde, Christal Delagrammatikas, Sandra Bedrosian‐Sermone, Charis Eng, Emma K. Baker, Lacey C. Chetcuti   +22 more
wiley   +1 more source

Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Molecular Autism
Background Helsmoortel–Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; hence, it is also called ADNP syndrome.
Chuanhui Ge, Yuxin Tian, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Ying Zhang, Huiping Li, Daijing Sun, Wenzhu Peng, Xiu Xu, Yan Jiang, Qiong Xu   +12 more
doaj   +1 more source

Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis

Journal of Intellectual Disability Research, Volume 69, Issue 5, Page 383-392, May 2025.
ABSTRACT Background Dravet Syndrome (DS), Helsmoortel‐Van Der Aa Syndrome (HVDAS) and Tuberous Sclerosis Complex (TSC) are rare genetic syndromes, sharing intellectual disability (ID) and motor delay. In DS, two distinct gait patterns, crouch and non‐crouch, have been described using instrumented 3D gait analysis (i3DGA).
Esra Kınacı‐Biber, Lis Gys, Anna C. Jansen, An‐Sofie Schoonjans, Anke Van Dijck, R. Frank Kooy, Patricia Van de Walle, Ann Hallemans   +7 more
wiley   +1 more source

CoronaVac-induced antibodies that facilitate Fc-mediated neutrophil phagocytosis track with COVID-19 disease resolution

Emerging Microbes and Infections
Although severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants raise concerns about decreased vaccine efficacy, vaccines continue to confer robust protection in humans, implying that immunity beyond neutralization contributes to vaccine ...
Chuang Li, Jie Yu, Rahma Issa, Lili Wang, Mingzhe Ning, Shengxia Yin, Jie Li, Chao Wu, Yuxin Chen   +8 more
doaj   +1 more source

Presymptomatic Biological, Structural, and Functional Diagnostic Biomarkers of Autism Spectrum Disorder

Journal of Neurochemistry, Volume 169, Issue 5, May 2025.
Autism spectrum disorder (ASD) is diagnosed after behavioral symptoms emerge, highlighting the need for early biological markers, such as brain scans, genetic profiles, and biological samples from blood and urine tests, that could predict ASD before symptoms develop.
Bonnie M. Wang, Zoe Mills, Hannah F. Jones, Johanna M. Montgomery, Kevin Y. Lee   +4 more
wiley   +1 more source

Blood‐based biomarkers for Alzheimer's disease in Down syndrome: A systematic review and meta‐analysis

Alzheimer's &Dementia, Volume 21, Issue 4, April 2025.
Abstract Individuals with Down syndrome (DS) are at high risk of Alzheimer's disease (AD), displaying AD pathology similar to the general population. This study evaluated AD‐related blood biomarkers in DS within the AT(N) framework through a systematic review and meta‐analysis of studies published between 2017 and October 2024.
Yajing Zhou, Rory Sheehan, Lizhi Guo, Andre Strydom   +3 more
wiley   +1 more source

Identifying Reliable Change in Outcome Assessments for Behavioral Interventions

Behavioral Interventions, Volume 40, Issue 2, April 2025.
ABSTRACT Behavioral interventions have demonstrated group‐level benefits for a variety of behavioral presentations and conditions. The ability to capture and quantify reliable individual‐level change during the course of behavioral interventions is essential for making rational clinical management decisions.
Thomas W. Frazier, Maria Helton, Celine Akouri, Lacey Chetcuti, Mirko Uljarevic   +4 more
wiley   +1 more source

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses

Prenatal Diagnosis, Volume 45, Issue 3, Page 276-286, March 2025.
Abstract Objective This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low‐risk pregnancies and apparently normal fetuses in non‐consanguineous couples. Methods A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed.
Michal Levy, Shira Lifshitz, Mirela Goldenberg‐Fumanov, Lily Bazak, Rayna Joy Goldstein, Uri Hamiel, Rachel Berger, Shlomo Lipitz, Idit Maya, Mordechai Shohat   +9 more
wiley   +1 more source

Dose-dependent serological profiling of AdCLD-CoV19-1 vaccine in adults

mSphere
AdCLD-CoV19-1, a chimeric adenovirus-based severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine, was previously reported to elicit robust antibody responses in mice and non-human primates after a single dose. In this study, we conducted a
Jung Hyuk Lee, Yuna Shin, Kwang-Soo Shin, Ju Yeon Park, Mi Sun Kim, Young-Shin Park, Wuhyun Kim, Joon Young Song, Ji Yun Noh, Hee Jin Cheong, Chang-Yuil Kang, Sang Hwan Seo, Jae-Ouk Kim, Deok Ryun Kim, Nathaniel S. Hwang, Jae Seung Yang, Jerome H. Kim, Byoung-Shik Shim, Manki Song   +18 more
doaj   +1 more source