Research By Disease – CheckOrphan

Disease: Microcephaly

In silico screening for potential inhibitors from the phytocompounds of Carica papaya against Zika virus NS5 protein
20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
A nationwide survey of Vici syndrome in Japan
A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder
A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl
A Rare Case of Unilateral Fetal Cataract and Coincidental Polydactyly in Congenital Toxoplasmosis
AAV-mediated Stambp gene replacement therapy rescues neurological defects in a mouse model of microcephaly-capillary malformation syndrome
Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum
Argentine and World Health Organization head circumference standards: A comparison study
Astrocytes control quiescent NSC reactivation via GPCR signaling-mediated F-actin remodeling
Astrocytes control quiescent NSC reactivation via GPCR signaling-mediated F-actin remodeling
AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/β-catenin pathway
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
Birth defects in a rural province in Papua New Guinea
Cerebral Folate Transport Deficiency in 2 Cases with Intractable Myoclonic Epilepsy
Chromosomal 1p Duplication in a Pediatric Patient: A Case Report
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report
Clinical and genetic analysis of a case of O'Donnell-Luria-Rodan syndrome manifesting as growth retardation
Clinical spectrum of congenital Zika virus infection in Brazil: Update and issues for research development
Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011-2020
Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile)
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
Developmental and epileptic encephalopathy produced by the ATP1A2 mutation
Diagnostic Utility of Preserved Dried Umbilical Cord Polymerase Chain Reaction in Intrauterine Herpes Simplex Virus Infection: A Case Report and Literature Review
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans
Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report
Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis
Disruption of myelin structure and oligodendrocyte maturation in a macaque model of congenital Zika infection
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
Eg5 and Diseases: From the Well-Known Role in Cancer to the Less-Known Activity in Noncancerous Pathological Conditions
Eg5 UFMylation promotes spindle organization during mitosis
Elucidating the inhibitory mechanism of Zika virus NS2B-NS3 protease with dipeptide inhibitors: Insights from molecular docking and molecular dynamics simulations
Epilepsy as a Novel Phenotype of BPTF-Related Disorders
Evaluation of the antiviral activity of new dermaseptin analogs against Zika virus
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy
Expanding the clinical phenotype and variant spectrum associated with RFX7
Exploring the pathological mechanisms underlying Cohen syndrome
Feeding practices and weight status of children with congenital Zika syndrome: A longitudinal study in Brazil
Floating-Harbor Syndrome: A Systematic Literature Review and Case Report
Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case
Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
Genomic sequencing: ending the diagnostic odyssey for a child with microcephaly and dystonia with a perioperative challenge
Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy
Glass syndrome derived from chromosomal breakage downstream region of SATB2
GRM7 deficiency, from excitotoxicity and neuroinflammation to neurodegeneration: Systematic review of GRM7 deficient patients
Hinge Craniotomy for Posterior Cranial Vault Expansion: Using the Keel to the Surgeon's Advantage
HiPSC-derived 3D neural models reveal neurodevelopmental pathomechanisms of the Cockayne Syndrome B
hnRNPs: roles in neurodevelopment and implication for brain disorders
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences
IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport
IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients
IGF1 haploinsufficiency: phenotype and response to growth hormone treatment in nine patients
Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1
Increased Angiotensin I-Converting Enzyme Activity in Zika Virus-Infected Mouse Brain: Implications for Therapy?
Infection by zika virus increase angiotensin I-converting enzyme activity in mouse brain
Intranasal Immunization for Zika in a Pre-Clinical Model
invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences
Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience
Little-known virus surging in Latin America may harm fetuses
Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
Medulloblastomas Initiated by Homologous Recombination Defects in Mice
MicroRNA profiles in Zika virus infection: Insights from diverse sources
Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly
Mowat-Wilson syndrome: Case report
Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly
Neurodevelopment in preschool children exposed and unexposed to Zika virus in utero in Nicaragua: a prospective cohort study
Neurodevelopmental Outcomes of Preschoolers with Antenatal Zika Virus Exposure Born in the United States
Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine
Novel fetal phenotype of TAF8 deficiency
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling
Pontocerebellar Hypoplasia Type 9: A Case Study Highlighting Distinctive Magnetic Resonance Imaging Features
Pregnant women's perceptions on Information Sources on Zika Virus: a qualitative study
Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities
Protein Phosphatase 2ACalpha Regulates ATR-Mediated Endogenous DNA Damage Response Against Microcephaly
Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child - A Case Report
Role of cell metabolism in the pathophysiology of brain size-associated neurodevelopmental disorders
Serious Concern of Congenital Zika Syndrome (CZS) in India: A Narrative Review
Short- and long-term neurological outcomes of congenital cytomegalovirus infection
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient
Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration
STAMBP is Required for Long-Term Maintenance of Neural Progenitor Cells Derived from hESCs
Teaching NeuroImage: Porencephaly and Hemorrhage in Infantile COL4A2-Related Cerebral Microangiopathy
Testicular damage without clinical manifestations in BALB/c mice experimentally infected with Zika virus
The DNA repair protein DNA-PKcs modulates synaptic plasticity via PSD-95 phosphorylation and stability
The inoculum dose of Zika virus can affect the viral replication dynamics, cytokine responses and survival rate in immunocompromised AG129 mice
The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns
TNF-α blockage prevents late neurological consequences of Zika virus infection in mice
TRMT10A dysfunction perturbs codon translation of initiator methionine and glutamine and impairs brain functions in mice
Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene
Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a novel SLC13A5 variant
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III
Zbtb11 interacts with Otx2 and patterns the anterior neuroectoderm in Xenopus
Zika virus infection: sexual transmission and implications for prevention
Zika Virus Neuropathogenesis-Research and Understanding
Zika virus vertical transmission induces neuroinflammation and synapse impairment in brain cells derived from children born with Congenital Zika Syndrome