A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1528
Abstract: Mutations in the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a rare autonomic nervous system dysfunction disorder characterized by a decreased ventilatory response to hypercapnia. Affected subjects develop alveolar hypoventilation requiring ventilatory support particularly… read more here.
Keywords: respiratory hirschsprung; generation family; family associated; hirschsprung phenotype ... See more keywords
Three-generation households and child mental health in European countries
Sign Up to like & getrecommendations! Published in 2018 at "Social Psychiatry and Psychiatric Epidemiology"
DOI: 10.1007/s00127-018-1640-9
Abstract: PurposeTo evaluate the associations between the presence of a grand parent at home that is three-generation household, with children mental health in diverse countries whether this situation is frequent or not.MethodsData from the School Children… read more here.
Keywords: generation households; health; child mental; mental health ... See more keywords
Pedigree-based estimation of human mobile element retrotransposition rates.
Sign Up to like & getrecommendations! Published in 2019 at "Genome research"
DOI: 10.1101/gr.247965.118
Abstract: Germline mutation rates in humans have been estimated for a variety of mutation types, including single-nucleotide and large structural variants. Here, we directly measure the germline retrotransposition rate for the three active retrotransposon elements: L1,… read more here.
Keywords: retrotransposition; rate; mobile element; retrotransposition rate ... See more keywords
Characterization of Aerosols of Titanium Dioxide Nanoparticles Following Three Generation Methods Using an Optimized Aerosolization System Designed for Experimental Inhalation Studies
Sign Up to like & getrecommendations! Published in 2017 at "Toxics"
DOI: 10.3390/toxics5030014
Abstract: Nanoparticles (NPs) can be released in the air in work settings, but various factors influence the exposure of workers. Controlled inhalation experiments can thus be conducted in an attempt to reproduce real-life exposure conditions and… read more here.
Keywords: three generation; titanium dioxide; aerosols titanium; inhalation ... See more keywords
Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three-generation family with endometriosis
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Medicine Reports"
DOI: 10.3892/mmr.2019.9818
Abstract: Endometriosis is an enigmatic condition with an unknown etiology and a poorly understood pathogenesis. It is considered to appear from the interplay of many genetic and environmental factors, affecting up to 10% of women and… read more here.
Keywords: endometriosis; exome sequencing; generation family; family ... See more keywords
The Impact of COVID-19 Household Isolation on Conflict and Cohesion in One-, Two-, and Three-Generation Households With Older Adults.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of gerontological nursing"
DOI: 10.3928/00989134-20230310-02
Abstract: The current cross-sectional study examined the effect of coronavirus disease 2019 (COVID-19) household isolation on household conflict and cohesion in one-, two-, and three-generation households with older adults (aged ≥65 years). Participants were 757 adults… read more here.
Keywords: older adults; three generation; household isolation; generation ... See more keywords