Results 291 to 300 of about 58,257 (335)

Genetic rescue of pathogenic O-GlcNAc dyshomeostasis associated with microcephaly and motor deficits

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The Genetics of Primary Microcephaly

Annual Review of Genomics and Human Genetics, 2018
Primary microcephaly (MCPH, for "microcephaly primary hereditary") is a disorder of brain development that results in a head circumference more than 3 standard deviations below the mean for age and gender. It has a wide variety of causes, including toxic
Byoung-Il Bae, Christopher A Walsh
exaly   +2 more sources

Imaging of Microcephaly

Clinics in Perinatology, 2022
One of the most common definitions of microcephaly cited is that of an occipitofrontal circumference (OFC) of the head that is less than two standard deviations below the average for age (or gestational age, if identified prenatally) and sex. Similarly, severe microcephaly is defined as an OFC that is less than three standard deviations below the ...
Chukwudi, Okafor, Sangam, Kanekar
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Microcephaly

Journal of Mental Science, 1959
Smallness of the cranium is one of the commonest findings in severe mental defect. Ashby and Stuart (1933 and 1934) found a correlation between brain weight and mental age of +0.15, but they regarded this as part of the more general positive correlation of +0.24 which they observed between body weight and mental age.
M W, BRANDON, B H, KIRMAN, C E, WILLIAMS
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Microcephaly

2013
True microcephaly (head circumference ≤-3SD), either primary (present at birth) or secondary (of postnatal onset) results from an imbalance between progenitor cell production and cell death that lead to a reduced number of neuronal and glial cells within the brain, resulting in reduced brain growth.
Sandrine, Passemard   +2 more
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Microcephaly

Pediatrics In Review, 1996
Microcephaly is characterized by a head circumference that is below the normal range. The diagnosis is made by measuring the largest circumference of the head, using the glabella and the occipital protuberance as reference points. Head circumference reflects brain volume, with a small skull usually reflecting a small brain.
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Cytomegalovirus and Microcephaly

Pediatrics, 1970
We read with interest the report by Dr. Baron and his colleagues1. We also have studied cytomegalovirus (CMV) infection in children. CMV isolation and complement-fixing (CF) antibody in microcephalic and normal normocephalic children are shown in Table I.
T, Nakao, S, Chiba
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Atelencephalic Microcephaly

Developmental Medicine & Child Neurology, 1977
SUMMARYA two‐month‐old child born with marked microcephaly (head circumference 17cm) was found at autopsy to have gliomesodermal tissue replacing the telencephalon (atelencephaly). This finding, together with genital anomalies and hypoplasia of the extremities, suggests arrest at the fifth week of fetal life.
C A, Garcia, C, Duncan
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Achalasia and microcephaly

American Journal of Medical Genetics, 1980
AbstractThe authors report the combination of achalasia, microcephaly, and mental retardation in three surviving sisters and similar manifestations in a brother who died after recurrent vomiting and respiratory infections. The achalasia in the females was relieved with an operation. There was no demonstrable chromosomal abnormality.
Kenneth W. Dumars   +3 more
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