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