Results 71 to 80 of about 90,161 (348)
A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome [PDF]
, 2009 We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Cockayne +11 more
core +3 more sources
EMBO Journal, 2020 Mutations in centrosome genes deplete neural progenitor cells (NPCs) during brain development, causing microcephaly. While NPC attrition is linked to TP53‐mediated cell death in several microcephaly models, how TP53 is activated remains unclear.
Thao P Phan +11 more
semanticscholar +1 more source
Viruses, 2021 The relation of Zika virus (ZIKV) with microcephaly is well established. However, knowledge is lacking on later developmental outcomes in children with evidence of maternal ZIKV infection during pregnancy born without microcephaly.
Paula Fabiana Sobral da Silva +14 more
semanticscholar +1 more source
Microcephaly, an etiopathogenic vision
Pediatrics and Neonatology, 2021 Microcephaly is defined by an occipital-frontal head circumference (OFD) 2 standard deviations (SD) smaller than the average expected for age, gender and population. Its incidence has been reported between 1.3 and 150 cases per 100,000 births. Currently,
Luis Eduardo Becerra-Solano +2 more
doaj +1 more source
A new insight into the definition of microcephaly in Zika congenital syndrome era
Cadernos de Saúde Pública, 2021 : This study aimed to compare the anthropometric measurements and body proportionalities of neonates born before the Zika virus epidemic with those born during this period. We compared 958 neonates born during the pre-Zika epidemic with 264 neonates born
Fabiana Cristina Lima da Silva Pastich Gonçalves +9 more
doaj +1 more source
Requests for Abortion in Latin America Related to Concern about Zika Virus Exposure [PDF]
, 2016 With the rapid emergence of Zika virus throughout Latin America and its association with microcephaly, requests for access to abortion medications through online telemedicine have increased in countries where access to safe abortion is not universally ...
Aiken, Abigail R.A. +5 more
core +3 more sources
VirusesOropouche virus (OROV) is an emerging arbovirus endemic in Latin America and the Caribbean that causes Oropouche fever, a febrile illness that clinically resembles some other arboviral infections.
David A. Schwartz +2 more
semanticscholar +1 more source
BMC PediatricsObjective To describe the feeding characteristics and growth of children with prenatal exposure to Zika virus (ZIKV) from birth to 48 months. Design Using data from the prospective Microcephaly Epidemic Research Group Pediatric Cohort (MERG-PC), children
Danielle Maria da Silva Oliveira +13 more
doaj +1 more source
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair [PDF]
, 2012 Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5'-kinase and DNA 3'-phosphatase ...
Alexandra K. Walker +41 more
core +1 more source
Genes, 2021 Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders.
Mateusz Dawidziuk +46 more
semanticscholar +1 more source