Disease: Microcephaly
- <em>Pf</em>Ago-Based Zika Virus Detection
- A Marine Natural Product, Harzianopyridone, as an Anti-ZIKV Agent by Targeting RNA-Dependent RNA Polymerase
- A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations
- A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review
- A novel variant in NSUN2 causes intellectual disability in a Chinese family
- A rare case of Fanconi anemia with Mitomycin C sensitivity: A pediatrics case report
- Aberrant splicing caused by a novel KMT2A variant in Wiedemann-Steiner syndrome
- An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review
- Analysis of clinical characteristics and molecular genetics in eighteen patients with 1q21.1 microdeletion syndrome
- ATP-P2X7 signaling mediates brain pathology while contributing to viral control in perinatal Zika virus infection
- Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
- Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript
- Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
- Case Report: Novel compound heterozygous <em>TPRKB</em> variants cause Galloway-Mowat syndrome
- Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
- Characterization of Two Highly Specific Monoclonal Antibodies Targeting the Glycan Loop of the Zika Virus Envelope Protein
- Chromosomal Duplication Syndromes: A Case Series
- Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases
- Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene
- Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a <em>CCDC47</em> variant
- Clinical and genetic characteristics of a child with Developmental and epileptic encephalopathy 104 due to variant of ATP6V0A1 gene
- Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency
- Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A
- Clinical-functional correlation with brain volumetry in severe perinatal asphyxia: a case report
- Condensin-mediated restriction of retrotransposable elements facilitates brain development in Drosophila melanogaster
- Congenital anomalies during Covid-19: artifact of surveillance or a real TORCH?
- Congenital Toxoplasmosis and Long-term Outcomes
- Construction of exosome-loaded LL-37 and its protection against zika virus infection
- Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report
- Decoding the Neurodevelopment and Seizure Puzzle: A Pediatric Case of DYRK1A Gene Mutation and Autosomal Dominant Mental Retardation Type 7
- Design, development, and validation of multi-epitope proteins for serological diagnosis of Zika virus infections and discrimination from dengue virus seropositivity
- Design, synthesis, and antiviral activity of 1-aryl-4-arylmethylpiperazine derivatives as Zika virus inhibitors with broad antiviral spectrum
- DHCR7 links cholesterol synthesis with neuronal development and axonal integrity
- Disease Transmission and Diagnosis of Zika Virus
- Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature
- Emerging Evidence of Golgi Stress Signaling for Neuropathies
- Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
- Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
- Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies
- Exploring Zika Virus Impact on Endothelial Permeability: Insights into Transcytosis Mechanisms and Vascular Leakage
- Family case of Potocki-Lupski syndrome
- Feeding characteristics and growth among children with prenatal exposure to Zika virus with and without microcephaly in the microcephaly epidemic research group pediatric cohort
- Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2
- FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development
- Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders
- Genetic Counseling of Fetal Microcephaly
- Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein
- Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy
- Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis
- Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
- How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
- Human mutations in <em>SLITRK3</em> implicated in GABAergic synapse development in mice
- Illness stress-induced transient hyperglycemia in a patient with a novel YIPF5 homozygous missense variant: expanding the phenotype
- Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly
- Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing
- Inhibition of Foxp3 expression in the placenta of mice infected intraperitoneally by toxoplasma gondii tachyzoites: insights into the PPARγ/miR-7b-5p/Sp1 signaling pathway
- Intrauterine Transmission of Zika and Vertical Transfer of Neutralizing Antibodies Detected Immediately at Birth in Oaxaca, Mexico: An Analysis in the Context of Microcephaly
- Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review
- Long-Term Growth and Neurodevelopmental Outcomes of Neonates Infected with SARS-CoV-2 during the COVID-19 Pandemic at 18-24 Months Corrected Age: A Prospective Observational Study
- Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis
- MicroRNA‑155‑5p inhibits trophoblast cell proliferation and invasion by disrupting centrosomal function
- Mitotic Block and Epigenetic Repression Underlie Neurodevelopmental Defects and Neurobehavioral Deficits in Congenital Heart Disease
- Molecular characterization of <em>Drosophila melanogaster</em> thymidylate kinase
- Molecular functions of ANKLE2 and its implications in human disease
- Motor Impairment Referrals to an International Child Development Clinic: It is Not Always Cerebral Palsy
- Mowat-Wilson Syndrome: Case Report and Review of <em>ZEB2</em> Gene Variant Types, Protein Defects and Molecular Interactions
- Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability
- New candidate genes potentially involved in Zika virus teratogenesis
- Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction
- Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review
- Novel characterization of <em>CASK</em> variant <em>c.1963 A>G (p.Asn655Asp)</em> through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report
- Novel Compound Heterozygous Mutations of LIG4 Gene in an Indian LIG4 Syndrome Patient with Severe Microcephaly: Case Report, In-silico Analysis and Systematic Review
- Novel compound heterozygous variants in the <em>CSPP1</em> gene causes Joubert syndrome: case report and literature review of the <em>CSPP1</em> gene's pathogenic mechanism
- Novel copy number variations and phenotypes of infantile epileptic spasms syndrome
- Ophthalmologic Findings in a Premature Infant leading to a Zika Diagnosis during the COVID-19 Pandemic: A Case Report
- Oral conditions of children with microcephaly associated with congenital Zika syndrome: a cross-sectional study
- Perinatal characteristics and longer-term outcomes in Brazilian children with confirmed or suspected congenital Zika infection: ZIKAction Paediatric Registry
- Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature
- Population-based surveillance for birth defects potentially related to Zika virus infection including 3-year mortality and developmental outcomes, and Early Intervention Program service use-New York City, 2016 birth cohort
- PRDM16 co-operates with LHX2 to shape the human brain
- Prediction of underweight, short stature, and microcephaly based on brain diffusion-weighted imaging sequence in neonates with stage.2 of hypoxic-ischemic encephalopathy: A follow-up study
- Prenatal exposure to antiseizure medications and fetal growth: a population-based cohort study from the Nordic countries
- PRKD1-related Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: case report and review of the literature
- PRMT5-mediated homologous recombination repair is essential to maintain genomic integrity of neural progenitor cells
- Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey
- RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant
- Selenoprotein I is indispensable for ether lipid homeostasis and proper myelination
- Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2
- Single-cell analysis reveals an antiviral network that controls Zika virus infection in human dendritic cells
- Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly
- The analyses of human MCPH1 DNA repair machinery and genetic variations
- The impact of ZIKV infection on gene expression in neural cells over time
- The ZIKV NS5 Protein Aberrantly Alters the Tubulin Cytoskeleton, Induces the Accumulation of Autophagic p62 and Affects IFN Production: HDAC6 Has Emerged as an Anti-NS5/ZIKV Factor
- TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient
- Two cases of cytopenia associated with multiple malformations
- Two cases of KIF11-related retinopathy with microcephaly
- Two Growth-Restricted Fetuses with Severe Microcephaly and Neurologic Abnormalities
- Viral infections in pregnancy and impact on offspring neurodevelopment: mechanisms and lessons learned
- Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4
- ZAP70: A Key Gene Identified by Differential Expression Analysis for Early Diagnosis of Fetuses with Emanuel Syndrome