Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 8 of 8 for “"macrocephaly"”.
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Paraspeckle protein NONO regulates active chromatin by allosterically stimulating NSD1
… are found to drive a rare and understudied macrocephaly phenotype in Sotos and MRXS34 syndromes, respectively. Together, these findings uncover a previously unrecognized mechanism of how nuclear paraspeckes regulate active chromatin, provide an insight into the molecular pathogenesis of …
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Constructing growth reference curves for a cohort of South African children
… as underweight, stunted or having micro- or macrocephaly when measured against the WHO standards. The poor socioeconomic status and associated harmful exposures of the cohort were noted as potential contributing factors. A fair comparison would require a reasonably healthy and representative …
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Mid-upper arm circumference and nutritional risk in macrocephalic pediatric patients
… circumference (MUAC) in pediatric patients with macrocephaly better identifies children at nutritional risk as compared to weight-for-length (WFL) or body mass index (BMI). Methods: A cross-sectional pilot study of children aged 6-36 months with a head circumference 2 SD above the mean was …
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The PI3-Kinase/TSC Pathway: A Role in Neural and Renal Development and Pathology
… the cortex and hippocampus. These mice develop macrocephaly accompanied by neuronal hypertrophy and loss of neuronal polarity. The mutant mice also exhibit behavioral abnormalities reminiscent of certain features of human autism. Biochemical analysis indicates that multiple AKT downstream …
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PRC2 GATEKEEPS THE BALANCE BETWEEN DIRECT AND INDIRECT NEUROGENESIS AND CONTROLS NEURONAL MIGRATION DURING HUMAN CORTICOGENESIS
… characterized by pre- and post-natal overgrowth, macrocephaly, facial dysmorphisms and varying degrees of intellectual disability. WVS’ genetic cause was identified in heterozygous mutations in Polycomb repressive complex 2 (PRC2) components. This complex catalyzes the trimethylation of Lysine 27 …
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An Examination of the Broader Autism Phenotype in Simplex and Multiplex Families
… or multiplex families. Despite reports that macrocephaly appears to be a familial trait in ASD, head circumference measurements did not differ between multiple-incidence and single-incidence families. However, a positive relationship between head circumference and increased BAP traits was …
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Untersuchungen zur Rolle genetischer Veränderungen in der chromosomalen Region 11p15 bei der Entstehung des Silver-Russell-Syndroms
… fifth finger, skeletal asymmetry and relative macrocephaly. The syndrome usually occurs sporadically, but in some cases a familial accumulation can be observed. 10% of the SRS-Patients show a maternal uniparental dysomie (UPD) of chromosome 10. Therefore different growth-regulating genes on …
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Implementierung hochauflösender molekulargenetischer Methoden zur Klärung der Pathophysiologie des Silver-Russell-Syndroms
… and postnatal growth retardation, a relative macrocephaly, a triangular face, asymmetry of the body and/or the limbs, and a clinodactyly of the fifth digits. A molecular genetic confirmation of the clinical diagnosis is currently feasible in approximately half of the patients: While in 7-10% …