Browsing Centre for Genomics and Child Health by Title
Now showing items 388-407 of 831
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Heroes of peer review: Robert Lowe
(2017-04-19) -
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
(Springer Nature, 2021-03-11)Telomere biology disorders are complex clinical conditions that arise due to mutations in genes required for telomere maintenance. Telomere length has been utilised as part of the diagnostic work-up of patients with these ... -
HIV-exposed, uninfected infants: new global challenges in the era of paediatric HIV elimination.
(Elsevier, 2016-03-31)The number of infants infected with HIV is declining with the rise in interventions for the elimination of paediatric HIV infection, but the number of uninfected infants exposed to HIV through their HIV-infected mothers ... -
Homotypic clusters of transcription factor binding sites: A model system for understanding the physical mechanics of gene expression.
(2014-07)The organization of binding sites in cis-regulatory elements (CREs) can influence gene expression through a combination of physical mechanisms, ranging from direct interactions between TF molecules to DNA looping and ... -
homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes
(American Society of Hematology, 2018-09-20)Dyskeratosis congenita (DC) and its severe form, Hoyeraal-Hreidarsson syndrome (HHS), are rare and have life-threatening failure of hematopoiesis. Typically, DC patients present with disease features such as nail dystrophy, ... -
How do you explain the risk of air pollution to your patients?
(2016-09).@ERStalk Environ & Health committee workshop concludes: HCPs vital to raising awareness of air pollution to patients http://ow.ly/pfOe301FoIg. -
How Does p73 Cause Neuronal Defects?
(2016-09) -
The Human Microbiome and Child Growth – First 1000 Days and Beyond
(Elsevier - Cell Press, 2018-10-24)The assembly of microbial communities within the gastrointestinal tract during early life plays a critical role in immune, endocrine, metabolic, and other host developmental pathways. Environmental insults during this ... -
The Human Phenotype Ontology in 2017
(2017-01-04) -
Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance.
(Elsevier Inc., 2019-01-17)Hypothalamic melanocortin neurons play a pivotal role in weight regulation. Here, we examined the contribution of Semaphorin 3 (SEMA3) signaling to the development of these circuits. In genetic studies, we found 40 rare ...