Results 191 to 200 of about 593,238 (360)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei +10 more
wiley +1 more source
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene [PDF]
, 2000 Núria López-Bigas +7 more
openalex +1 more source
Animal Models and Experimental Medicine, EarlyView.Sox6 expression is elevated in hypertensive conditions and promotes vascular smooth muscle cell phenotypic switching through autophagy activation. Using gain‐ and loss‐of‐function approaches both in vitro and in vivo, we demonstrate that Sox6 regulates blood pressure and vascular remodeling, highlighting its potential as a novel therapeutic target for ...
Qianhui Ling +7 more
wiley +1 more source
SNP Genotyping by Combination of 192-Well MADGE, ARMS and Computerized Gel Image Analysis [PDF]
, 2000 Sandra D. O’Dell +2 more
openalex +1 more source
Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features
Annals of Neurology, EarlyView.Objectives We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE). Methods Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic analysis. The latter included screening for rare pathogenic variants in epilepsy genes, and polygenic risk score (PRS) calculation for ...
Genevieve Rayner +4 more
wiley +1 more source
A rare case of alveolar echinococcosis in a 14-year-old child
Helminthologia, 2008 Kinčeková J. +6 more
doaj +1 more source