Results 11 to 20 of about 53,326 (281)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014 The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a consolidation and emergence of certain themes concerning underlying pathomechanisms.
Alcantara, Diana, O'Driscoll, Mark
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Causes of microcephaly in human—theoretical considerations [PDF]
Frontiers in Neuroscience, 2023 As is evident from the theme of the Research Topic “Small Size, Big Problem: Understanding the Molecular Orchestra of Brain Development from Microcephaly,” the pathomechanisms leading to mirocephaly in human are at best partially understood. As molecular
Michael Heide, Wieland B. Huttner
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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
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Pyridostigmine-Induced Microcephaly
Pediatric Neurology Briefs, 2000 The association of high-dose pyridostigmine (PYD) during pregnancy with microcephaly and CNS injury in an infant is reported from the Children’s Hospital Los Angeles, CA.
J Gordon Millichap
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Jornal de Pediatria, 2021 Objective: We sought to describe the prevalence of microcephaly and to compare the different cutoff points established by the Brazilian Ministry of Health at various times during a Zika virus epidemic.
Ana Paula Antunes Pascalicchio Bertozzi +11 more
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Prevalence of congenital microcephaly and its risk factors in an area at risk of Zika outbreaks
BMC Pregnancy and Childbirth, 2021 Background Prevalence of neonatal microcephaly in populations without Zika-epidemics is sparse. The study aimed to report baseline prevalence of congenital microcephaly and its relationship with prenatal factors in an area at risk of Zika outbreak ...
Songying Shen +12 more
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Microcephaly measurement in adults and its association with clinical variables
Revista de Saúde Pública, 2022 OBJECTIVE To establish a microcephaly cut-off size in adults using head circumference as an indirect measure of brain size, as well as to explore factors associated with microcephaly via data mining.
Nicole Rezende da Costa +13 more
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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
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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
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Genomic Analysis of Korean Patient With Microcephaly
Frontiers in Genetics, 2021 Microcephaly is a prevalent phenotype in patients with neurodevelopmental problems, often with genetic causes. We comprehensively investigated the clinical phenotypes and genetic background of microcephaly in 40 Korean patients.
Jiwon Lee +7 more
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