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Subject Areas on Research
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
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A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
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Aberrant cortical development is driven by impaired cell cycle and translational control in a DDX3X syndrome model.
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Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
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Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.
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Brazil's Missing Infants: Zika Risk Changes Reproductive Behavior.
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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
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Contemporary Understanding of Ebola and Zika Virus in Pregnancy.
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Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
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Detection and Prevention of Perinatal Infection: Cytomegalovirus and Zika Virus.
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Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?
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Geospatial modeling of microcephaly and zika virus spread patterns in Brazil.
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Head growth and developmental outcome in very low-birth-weight infants.
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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
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Identification of cis-suppression of human disease mutations by comparative genomics.
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Maternal immunity and antibodies to dengue virus promote infection and Zika virus-induced microcephaly in fetuses.
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Mechanisms of Zika Virus Infection and Neuropathogenesis.
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Microcephaly with altered cortical layering in GIT1 deficiency revealed by quantitative neuroimaging.
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Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
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Partial duplication of 4q12q13 leads to a mild phenotype.
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Prenatal genetic diagnosis of Neu-Laxova syndrome.
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Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.
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Seckel syndrome and moyamoya.
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
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The exon junction complex component Magoh controls brain size by regulating neural stem cell division.
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The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
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Type III Interferons Produced by Human Placental Trophoblasts Confer Protection against Zika Virus Infection.
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Zika virus infection and microcephaly: Evidence regarding geospatial associations.
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Keywords of People