Results 21 to 30 of about 88,636 (324)
Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly
Journal of Head & Neck Physicians and Surgeons, 2022 Microcephaly is a rare neurological condition, and it is characterized by a smaller head than other children of the same age and sex. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MLCRD) is a syndrome with a varying ...
Sinem Yalcintepe +4 more
doaj +1 more source
Time is of the essence: the molecular mechanisms of primary microcephaly
Genes & Development, 2021 In this review, Phan et al. discuss the different models that have been proposed to explain how centrosome dysfunction impairs cortical development, and review the evidence supporting a unified model in which centrosome defects reduce cell proliferation ...
Thao P Phan, A. Holland
semanticscholar +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
Cost-effectiveness of a potential Zika vaccine candidate: a case study for Colombia [PDF]
, 2018 Background: A number of Zika vaccine platforms are currently being investigated, some of which have entered clinical trials. We sought to evaluate the cost-effectiveness of a potential Zika vaccine candidate under the WHO Vaccine Target Product Profile ...
Moghadas, Seyed +2 more
core +2 more sources
Molecular Genetics of Microcephaly Primary Hereditary: An Overview
Brain Science, 2021 MicroCephaly Primary Hereditary (MCPH) is a rare congenital neurodevelopmental disorder characterized by a significant reduction of the occipitofrontal head circumference and mild to moderate mental disability.
Nikistratos Siskos +3 more
semanticscholar +1 more source
Children, 2017 Microcephaly is defined as a head circumference more than two standard deviations below the mean for gender and age. Congenital microcephaly is present at birth, whereas postnatal microcephaly occurs later in life.
Emily Hanzlik, Joseph Gigante
doaj +1 more source
Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]
, 2019 Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G. +7 more
core +1 more source
Human-Specific Genes, Cortical Progenitor Cells, and Microcephaly
Cells, 2021 Over the past few years, human-specific genes have received increasing attention as potential major contributors responsible for the 3-fold difference in brain size between human and chimpanzee.
M. Heide, W. Huttner
semanticscholar +1 more source
Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly [PDF]
, 2017 Mutations in citron (CIT), leading to loss or inactivation of the citron kinase protein (CITK), cause primary microcephaly in humans and rodents, associated with cytokinesis failure and apoptosis in neural progenitors.
Alessandra Maria Adelaide, Chiotto +21 more
core +3 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