DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders

DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders

Abstract Background This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities. Methods A total of 1,457 children who visited the Child Health Department of our hospital...

Full description

Saved in:

Bibliographic Details
Main Authors:	Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li
Format:	Article
Language:	English
Published:	BMC 2025-01-01
Series:	Italian Journal of Pediatrics
Subjects:	Children Copy-number variation Microdeletions Microduplications Neurodevelopmental disorders Whole-exome sequencing
Online Access:	https://doi.org/10.1186/s13052-025-01839-6
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders
by: Yu Qin, et al.
Published: (2025-01-01)

Le Musée européen des copies de Charles Blanc comme « pendant » du Louvre
by: Elisa Rodríguez Castresana
Published: (2017-10-01)

Editorial: Advancements and challenges in autism and other neurodevelopmental disorders
by: Sara Calderoni, et al.
Published: (2024-02-01)

Marker-Less Video Analysis of Infant Movements for Early Identification of Neurodevelopmental Disorders
by: Roberta Bruschetta, et al.
Published: (2025-01-01)

Scientific investigation of copies, fakes and forgeries (Paul Craddock,ed.)
by: Nico Broers
Published: (2010-11-01)

How will developmental neuroimaging contribute to the prediction of neurodevelopmental or psychiatric disorders? Challenges and opportunities
by: Koraly Pérez-Edgar, et al.
Published: (2025-01-01)

Comparison of neurodevelopmental outcome in late-preterm and term neonates at 9-month corrected age
by: Sarfaraz Nisar, et al.
Published: (2025-01-01)

Histoire de l’art et anthropologie, 4.Modèle et copie. Autour de la notion de «modèle» en anthropologie, histoire et histoire de l’art
by: Eliana Magnani, et al.
Published: (2010-10-01)

Neurosonograms in very preterm neonates: Findings, risk factors, and association with neurodevelopmental outcome: A retrospective study
by: Shyam Kumar Sasidhara Kurup, et al.
Published: (2024-01-01)

YAP/TAZ-associated cell signaling – at the crossroads of cancer and neurodevelopmental disorders
by: Aderonke O. Ajongbolo, et al.
Published: (2025-01-01)

Web-Based Database and Viewer of East Asian Copy Number Variations
by: Ji-Hong Kim, et al.
Published: (2012-03-01)

Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay
by: Melanie P. Napier, et al.
Published: (2025-04-01)

Genome Architecture and Its Roles in Human Copy Number Variation
by: Lu Chen, et al.
Published: (2014-12-01)

Une copie de L’Origine du monde par René Magritte ?
by: Catherine Defeyt, et al.
Published: (2019-12-01)

Validity of patient-derived xenograft mouse models for lung cancer based on exome sequencing data
by: Jaewon Kim, et al.
Published: (2020-03-01)

Cerebral Microhemorrhages in Children With Congenital Heart Disease: Prevalence, Risk Factors, and Association With Neurodevelopmental Outcomes
by: Kristen N. Andersen, et al.
Published: (2025-02-01)

Machine learning techniques for predicting neurodevelopmental impairments in premature infants: a systematic review
by: Arantxa Ortega-Leon, et al.
Published: (2025-01-01)

Neurodevelopmental outcomes of very low birth weight preterm infants during the COVID-19 pandemic
by: Yen-Chen Lin, et al.
Published: (2025-03-01)

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome
by: Efil Bayam, et al.
Published: (2024-11-01)

Conservation of an Early Electric Master Clock: Making a Copy as a Conservation Tool
by: Françoise Collanges
Published: (2014-03-01)

Psychiatric Morbidity among Primary Caregivers of Children with Neurodevelopmental Disorders at a Teaching Hospital in Kenya
by: Louise Namusonge Lusimbo, et al.
Published: (2024-12-01)

An open window: the crucial role of the gut-brain axis in neurodevelopmental outcomes post-neurocritical illness
by: Victoria Ronan
Published: (2025-01-01)

Neurodevelopmental Disorders and Connective Tissue-Related Symptoms: An Exploratory Case-Control Study in Children
by: Leonardo Zoccante, et al.
Published: (2024-12-01)

Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
by: Ming Li, et al.
Published: (2025-02-01)

Identifying Copy Number Variants under Selection in Geographically Structured Populations Based on -statistics
by: Hae-Hiang Song, et al.
Published: (2012-06-01)

L’apport des copies de Gaignières à la connaissance des archives de l’abbaye de Longpont
by: Benoît-Michel Tock
Published: (2023-11-01)

Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma
by: Olivia W Lee, et al.
Published: (2025-01-01)

A Novel Audio Copy Move Forgery Detection Method With Classification of Graph-Based Representations
by: Beste Ustubioglu, et al.
Published: (2025-01-01)

Comparative effectiveness of physical activity interventions on cognitive functions in children and adolescents with Neurodevelopmental Disorders: a systematic review and network meta-analysis of randomized controlled trials
by: Ruiyuan Tao, et al.
Published: (2025-01-01)

Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability
by: Jing Y. Hsu, et al.
Published: (2025-01-01)

Copy-Move Forgery Verification in Images Using Local Feature Extractors and Optimized Classifiers
by: S. B. G. Tilak Babu, et al.
Published: (2023-09-01)

A new insight into the impact of copy number variations on cell cycle deregulation of luminal-type breast cancer
by: Amir Mahdi Khamaneh, et al.
Published: (2025-02-01)

Is maternal diabetes during pregnancy associated with neurodevelopmental, cognitive and behavioural outcomes in children? Insights from individual participant data meta-analysis in ten birth cohorts
by: Rachelle A. Pretorius, et al.
Published: (2025-01-01)

Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio
by: Vera Belova, et al.
Published: (2025-01-01)

The genomic copy number determination of improved Cre in transgenic mice using standards derived from megaprimer PCR constructed tandem repeats
by: Ge Diao, et al.
Published: (2024-12-01)

Screening of necroptosis-related genes and evaluating the prognostic capacity, clinical value, and the effect of their copy number variations in acute myeloid leukemia
by: Dake Wen, et al.
Published: (2025-01-01)

Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population
by: Tae-Joon Park, et al.
Published: (2016-12-01)

Determination of the copy numbers of type A porcine endogenous retroviruses in domestic pigs and wild boars
by: R. B. Aitnazarov, et al.
Published: (2017-02-01)

Relationship between the CUBN and the MIA3 gene copy number variation and growth traits in different cattle breeds
by: Yue Han, et al.
Published: (2025-12-01)

A copy number variation detection method based on OCSVM algorithm using multi strategies integration
by: Mengjiao Zhou, et al.
Published: (2025-01-01)