نتایج جستجو برای: microcephaly
تعداد نتایج: 3104 فیلتر نتایج به سال:
Brazil has experienced an unprecedented epidemic of Zika virus (ZIKV), with ~30,000 cases reported to date. ZIKV was first detected in Brazil in May 2015, and cases of microcephaly potentially associated with ZIKV infection were identified in November 2015. We performed next-generation sequencing to generate seven Brazilian ZIKV genomes sampled from four self-limited cases, one blood donor, one...
Ataxia telangiectasia and Rad3-related (ATR), a kinase that regulates a DNA damage response pathway, is mutated in ATR-Seckel Syndrome (ATR-SS), a disorder characterised by severe microcephaly and growth delay. Impaired ATR-signalling is also observed in cell lines from additional disorders characterised by microcephaly and growth delay, including non-ATR SS, Nijmegen Breakage Syndrome and MCPH...
Editorials 406 Zika virus infection in humans is usually mild or asymptomatic. However, some babies born to women infected with Zika virus have severe neurologi-cal sequelae. An unusual cluster of cases of congenital microcephaly and other neurological disorders in the WHO Region of the Americas, led to the declaration of a public health emergency of international concern by the World Health Or...
OBJECTIVE To assess the number of children born with microcephaly in the State of Paraíba, north-east Brazil. METHODS We contacted 21 maternity centres belonging to a paediatric cardiology network, with access to information regarding more than 100 000 neonates born between 1 January 2012 and 31 December 2015. For 10% of these neonates, nurses were requested to retrieve head circumference mea...
BACKGROUND There currently is a severe Zika Virus (ZIKV) epidemic in Brazil and other South American countries. Due to international travel, this poses severe public health risk of ZIKV importation to other countries. We estimate the prevalence of ZIKV in an import region by the time a microcephaly case is detected, since microcephaly is presently the most significant indication of ZIKV presenc...
BACKGROUND Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth due to a pronounced reduction in brain volume and intellectual disability. Biallelic mutations in the WD repeat-containing protein 62 gene WDR62 are the genetic cause of MCPH2. However, the exact underlying pathomechanism of MCPH2 remains to be clarified. METHODS/R...
The human brain is a network of ninety billion neurons that allows for many of the behavioral adaptations considered unique to our species. One-fifth of these neurons are layered in an epithelial sheet known as the cerebral cortex, which is exquisitely folded into convolutions called gyri. Defects in neuronal number clinically present with microcephaly (Greek for “small head”), and in inherited...
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