A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1582
Abstract: Gabriele‐de Vries syndrome (GADEVS), also known as YY1 haploinsufficiency syndrome, is a very rare autosomal dominant neurodevelopmental disorder (NDD) due to YY1 mutation characterized by mild‐to‐profound developmental delay (DD)/intellectual disability (ID), a wide spectrum of… read more here.
Keywords: month old; vries syndrome; gabriele vries; old chinese ... See more keywords
Establishment of TUSMi003-A, an induced pluripotent stem cell (iPSC) line from a 62-year old Chinese Han patient with Alzheimer's disease with ApoE3/4 genetic background.
Sign Up to like & getrecommendations! Published in 2018 at "Stem cell research"
DOI: 10.1016/j.scr.2018.01.005
Abstract: A 62-year old Chinese Han Alzheimer's disease (AD) female patient with ApoE3/4 genetic background donated her Peripheral blood mononuclear cells (PBMC). The non-integrating episomal vector system was used to reprogrammed PBMCs with the human OKSM… read more here.
Keywords: chinese han; alzheimer disease; genetic background; apoe3 genetic ... See more keywords
Astigmatism and its components in 12-year-old Chinese children: the Anyang Childhood Eye Study
Sign Up to like & getrecommendations! Published in 2018 at "British Journal of Ophthalmology"
DOI: 10.1136/bjophthalmol-2018-312114
Abstract: Purpose To determine prevalence of refractive (RA), corneal (CA) and internal astigmatism (IA), including variation with gender and spherical equivalent refraction (SE), in a population of 12-year-old Chinese children. Methods A total of 1783 students… read more here.
Keywords: old chinese; chinese children; year old; eye ... See more keywords
Sclerosing mesenteritis in a 5-year-old Chinese boy: a case report
Sign Up to like & getrecommendations! Published in 2017 at "BMC Pediatrics"
DOI: 10.1186/s12887-017-0931-8
Abstract: BackgroundSclerosing mesenteritis is a rare fibroinflammatory disorder of unknown etiology that primarily affects the mesentery of the small intestine during late adult life. Only about twenty pediatric cases have been reported to date, but none… read more here.
Keywords: mesenteritis; case; old chinese; year old ... See more keywords