A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2 [PDF]
, 2003 Key points: • Autosomal recessive primary microcephaly (MCPH) is a genetic disorder in which an affected subject is born with a head circumference >3 SD below the expected mean and is mentally retarded.
Costa, S.M.R. +5 more
core +2 more sources
Small head circumference at birth: an 8-year retrospective cohort study in China
BMJ Paediatrics Open, 2019 Objective Head circumference is considered a reliable assessment of the volume of the underlying brain. We sought to identify risk factors (maternal factors or antenatal antecedents) for microcephaly and to assess the effects of microcephaly on neonatal ...
Wen Sun +8 more
doaj +1 more source
Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis [PDF]
, 2013 Microcephaly represents one of the most obvious clinical manifestations of impaired neurogenesis. Defects in the DNA damage response, in DNA repair, and structural abnormalities in centrosomes, centrioles and the spindle microtubule network have all been
Abramowicz, Iga +4 more
core +1 more source
A theoretical estimate of the risk of microcephaly during pregnancy with Zika virus infection
Epidemics, 2016 Objectives: There has been a growing concern over Zika virus (ZIKV) infection, particularly since a probable link between ZIKV infection during pregnancy and microcephaly in the baby was identified.
Hiroshi Nishiura +5 more
doaj +1 more source
A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly
Cells, 2022 Microcephaly presents in neurodevelopmental disorders with multiple aetiologies, including bi-allelic mutation in TUBGCP2, a component of the biologically fundamental and conserved microtubule-nucleation complex, γ-TuRC. Elucidating underlying principles
Slawomir Bartoszewski +9 more
doaj +1 more source
Zika virus infection in pregnant women in Honduras: study protocol [PDF]
, 2016 Background: Although there is increasing evidence for a relationship between symptomatic Zika virus (ZIKV) maternal infection, and microcephaly, a firm causal relation has yet to be established by epidemiologic studies.
Amanda M. Berrueta +11 more
core +1 more source
Investigating microcephaly [PDF]
Archives of Disease in Childhood, 2013 1. Microcephaly is a clinical finding, not a 'disease', and is a crude but trusted assessment of intracranial brain volume. 2. Developmental processes reducing in utero neuron generation present at birth with 'Primary microcephaly'. 3. 'Secondary microcephaly' develops after birth and predominantly reflects dendritic or white matter diseases.
C Geoffrey, Woods, Alasdair, Parker
openaire +2 more sources
A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. [PDF]
, 2012 Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a ...
Atlihan, F +6 more
core +1 more source
Journal of Infection in Developing Countries, 2016 Introduction: Since the end of 2014, Zika virus (ZIKV) infection has been rapidly spreading in Brazil. Methodology: To analyze the possible association of yellow fever vaccine with a protective effect against ZIKV-related microcephaly, the following ...
Luciano Pamplona de Góes Cavalcanti +5 more
doaj +1 more source
The Frequency of Cytomegalovirus and Toxoplasma Among Microcephalic and Hydrocephalic Neonates Admitted to Pediatric Hospital in Bandar Abbas [PDF]
Disease and Diagnosis, 2020 Background: Congenital infection is a primary cause of malformations during infancy including hydrocephaly and microcephaly. In addition, cytomegalovirus and toxoplasma are the two prevalent causes of congenital infections.
Maryam Rostamian +4 more
doaj +1 more source