However, these new genetic findings raised different questions that will be discussed based on our experience and the current literature: - How can we refine correlation analysis between specific susceptibility alleles, environmental factors, systemic biomarkers and specific subgroups of AMD? In particular...
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A 2006; 140: 463–470. Article PubMed Google Scholar Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-...
We aimed to explore the genotype distribution, genotype-phenotype correlations, and outcomes according to genotype status in patients with HCM seen at our Hypertrophic Cardiomyopathy Association-recognized HCM Center of Excellence. We also wanted to explore the role of HCM Centers of Excellence in ...
The aim of this study was to reveal unknown genotype-phenotype correlations to get a better insight in the clinical prognosis of patients. As described in the introduction, literature review did not reveal proven direct associations between genotype and phenotype in PMM2-CDG, hence this study is...
So far, 13 genes have been implicated, but there is a paucity of data on genotype–phenotype correlation in some populations. Objectives We compiled an English cohort of 146 individuals with recessive ichthyosis and assessed genotype–phenotype correlation. Methods Deep phenotyping was undertaken by ...
The recent genetic discoveries in arrhythmogenic right ventricular cardiomyopathy/dysplasia ( ARVC /D) permit genotype-phenotype correlation in an increasing number of subjects, providing better knowledge of the diagnostic criteria, natural history, and ethiopathogenesis of the disease. Three different groups...
In six mutations, there were no correlations to any of the PKU phenotypes. In some of the missense mutations, in the PAH gene, the PAH PRA in vitro (http://www.pahdb.mcgill.ca) is known. Mutations that cause severe (classic) phenotypes are those in which the PRA is less then 10%...
There was a significant correlation between the clinical scores (MDRS: Spearman r = 0.51: p = 0.029; SSS: Spearman r = 0.538; p = 0.0259) used and the size of the amplification of the trinucleotide repeat. The largest expansion found in our group of patients was 6 kb. Furthermore, we...
Implication of the genotype-phenotype correlations There is no a standard procedure to test the causative mutation in cases with ALS. Many factors should be considered, such as AAO, clinical features, progression, FTD involvement, inheritance manner, and even ethnicity. In this review, we summarize...
Mussa A, Peruzzi L, Chiesa N et al: Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome. Pediatr Nephrol 2012; 27: 397–406. Article Google Scholar Choufani S, Shuman C, Weksberg R : Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2010;...