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. 
  • Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. 
  • Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 
  • Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. 
  • Detection and Prevention of Perinatal Infection: Cytomegalovirus and Zika Virus. 
  • Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. 
  • 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. 
  • 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