Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Molecular Genetic Analysis of Newborns with Congenital Microcephaly.

Neonatology - 1 Jan 2022

Ye Chang, Mei Hongfang, Chen Huiyao, Dong Xinran, Lu Yulan, Wu Bingbing, Wang Huijun, Hu Liyuan, Cheng Guoqiang, Zhou Wenhao, Yang Lin

Abstract excerpt

INTRODUCTION: Data on the genetic landscape of congenital microcephaly (CM) in China are scarce, and the incidence of CM caused by the most commonly mutated gene ASPM in China remains unknown. METHODS: Sixty-one neonates with CM who were hospitalized in the Children's Hospital of Fudan University between August 1, 2016, and August 31, 2020, were enrolled, and the clinical data and clinical exome-sequencing data...

Topics

Child
DNA Copy Number Variations
Humans
Infant, Newborn
Microcephaly
Molecular Biology
Mutation
Nerve Tissue Proteins

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35709690
DOI: 10.1159/000525073

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular Genetic Analysis of Newborns with Congenital Microcephaly.PMID 35709690Read ↗

[Genetic analysis of a child with autosomal recessive primary microcephaly due to variant of ASPM gene and a literature review].Semantic proximity Read ↗

Genetic diagnosis of fetal microcephaly at a single tertiary center in ChinaSemantic proximity Read ↗

Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.Semantic proximity Read ↗

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.Semantic proximity Read ↗

Analysis of the causes of neonatal death and genetic variations in congenital anomalies: a multi-center studySemantic proximity Read ↗

Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project.Semantic proximity Read ↗

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.Semantic proximity Read ↗

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.Semantic proximity Read ↗

Clinical application of CNV-Seq in the diagnosis of children with abnormal brain development in 130 casesSemantic proximity Read ↗

Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly.Semantic proximity Read ↗

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center studySemantic proximity Read ↗

Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort studySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.