GW25-e4516 Genotype-phenotype analysis on a large cohort of Chinese LQTS patients Long QT syndrome (LQTS) is characterized by QT prolongation, syncope and sudden death. This study aims to explore the causes, clinical manifestations and therapeutic outcomes of Jervell and Lange-Nielsen syndrome (JL...
To investigate the genotype and phenotype in families with adenosine triphosphate–binding cassette, sub-family A, member 4 (ABCA4)–associated retinal degeneration. Three families with at least one family member with known homozygous or compound heterozygote mutations in the ABCA4 gene were studied....
Here we advocate a complementary approach making use of already existing GWAS data: applying a data mining procedure to identify yet undetected genotype-phenotype relationships. We adapted association rule mining, a data mining technique traditionally used in retail market research,to identify frequent ...
Using Next-Generation sequencing, we identified the causative genetic mutations in fifteen patients with clinically suspected HE or HPP and correlated the identified mutations with the clinical phenotype and ektacytometry profile. In addition to identifying three novel mutations, gene sequencing confirmed ...
For early-stage disease, patients with the T/T genotype or high TGF-beta1 had shorter overall survival compared to those without T/T or with low TGF-beta1; the hazard ratios (HR) were 3.54 (95% CI: 1.21-10.40) for genotype and 2.54 (95% CI: 1.10-5.89) for phenotype after ...
Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation R, Walker R, Winnberg E and Svenningsson P: Genotype‑phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation. P... Martin,Paucar,Fengqing,... - 《Prion》...
From phenotype to genotype: an association study of longitudinal phenotypic markers to Alzheimer's disease relevant SNPs Wang H, Nie F, Huang H, Yan J, Kim S, Nho K, et al. From phenotype to genotype: an association study of longitudinal phenotypic markers to Alzheimer's disease relevant ...
The explanation was that those mutations were not fully penetrant, determining a phenotype with persistent residual activity [36]. However, for these patients, based on our experience, BH4 would have rather limited effect in improving dietary Phe tolerance....
Pheochromocytoma and paraganglioma: genotype versus anatomic location as determinants of tumor phenotype To date, germline or somatic genetic events can be detected for at least 60% of paragangliomas. Strong genotype鈥損henotype associations have been recogniz... BH Lehnert - 《Cell & Tissue Research...
The phenotype of a pod will be whether it is full or constricted and whether it is yellow or green. However, the genotype will be what copies of each allele it has. Word count: 155 6. Predict the phenotype of a pod that is homozygous dominant for its shape (FF) 7. Cho...