A clinical and genetic study of early‐onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next‐generation sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders"
DOI: 10.1002/mds.27633
Abstract: Recent genetic progress has allowed for the molecular diagnosis of Parkinson's disease. However, genetic causes of PD vary widely in different ethnicities. Mutational frequencies and clinical phenotypes of genes associated with PD in Asian populations… read more here.
Keywords: early onset; study; onset familial; clinical genetic ... See more keywords
Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1177
Abstract: Nonsyndromic hearing loss is clinically and genetically heterogeneous. In this study, we characterized the clinical features of 12 Chinese Han deaf families in which mutations in common deafness genes GJB2, SLC26A4, and MT‐RNR1 were excluded. read more here.
Keywords: chinese han; study; study chinese; clinical genetic ... See more keywords
Genetic study of KIR and HLA ligands in 235 individuals from Northeastern Thailand.
Sign Up to like & getrecommendations! Published in 2017 at "Human immunology"
DOI: 10.1016/j.humimm.2017.04.002
Abstract: The diversity of 17 KIR and HLA ligands (HLA-C1, C2, Bw4, A11) were investigated in two hundred and thirty-five unrelated healthy donors in Northeastern Thais (NETs) by the polymerase chain reaction with sequence-specific primer (PCR-SSP)… read more here.
Keywords: kir; kir hla; genetic study; hla ligands ... See more keywords
Genetic study homes in on height’s heritability mystery
Sign Up to like & getrecommendations! Published in 2019 at "Nature"
DOI: 10.1038/d41586-019-01157-y
Abstract: Analysis of 20,000 genomes reveals that rare gene variants can help to explain how the trait is inherited.Analysis of 20,000 genomes reveals that rare gene variants can help to explain how the trait is inherited. read more here.
Keywords: heritability mystery; homes height; study homes; height heritability ... See more keywords
New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1381976
Abstract: ABSTRACT Aplasia/agenesis of lacrimal and salivary glands is a rare congenital defect that has been associated with disturbances in fibroblast growth factor 10 (FGF10). It can present with symptoms of congenital lacrimal obstruction, dry eye,… read more here.
Keywords: ophthalmological genetic; pathogenic variant; agenesis lacrimal; genetic study ... See more keywords
Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome
Sign Up to like & getrecommendations! Published in 2018 at "BMC Pediatrics"
DOI: 10.1186/s12887-018-1004-3
Abstract: BackgroundCornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS cases from China.MethodsThis is… read more here.
Keywords: lange syndrome; study; genetic study; gene ... See more keywords
[Infantile epileptic encephalopathy: a good genetic study should be a priority].
Sign Up to like & getrecommendations! Published in 2018 at "Revista de neurologia"
DOI: 10.33588/rn.6609.2018071
Abstract: Encefalopatia epileptica del lactante: lo prioritario es un buen estudio genetico. read more here.
Keywords: epileptic encephalopathy; study priority; infantile epileptic; genetic study ... See more keywords
Comprehensive Genetic Study of Malignant Cervical Paraganglioma
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24098220
Abstract: Malignant middle ear paraganglioma (MEPGL) is an exceedingly rare tumor of the neuroendocrine system. In general, MEPGLs represent as slow growing and hypervascularized benign neoplasms. The genetic basis of MEPGL tumorigenesis has been poorly investigated.… read more here.
Keywords: malignant cervical; paraganglioma; genetic study; study malignant ... See more keywords