Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.23977
Abstract: Hemophilia A (HA) provides excellent models to analyze genotype–phenotype relationships and mutational mechanisms. NhF8ld's breakpoints were characterized using case‐specific DNA‐tags, direct‐ or inverse‐polymerase chain reaction amplification, and Sanger sequencing. DNA‐break's stimulators (n = 46), interspersed repeats, non‐B‐DNA,… read more here.
Keywords: phenotype; breakpoint; severe phenotype; molecular insights ... See more keywords
Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of pediatric surgery"
DOI: 10.1016/j.jpedsurg.2017.06.012
Abstract: BACKGROUND/PURPOSE Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum, anorectal malformation (ARM) and presacral mass, can be extremely variable. The triad is often incomplete and 3 main CS phenotypical subtypes have been… read more here.
Keywords: phenotype; currarino syndrome; presence; correlate severe ... See more keywords
A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree
Sign Up to like & getrecommendations! Published in 2018 at "Eye"
DOI: 10.1038/eye.2017.303
Abstract: A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree read more here.
Keywords: novel mutation; severe phenotype; opa1 associated; leu396arg opa1 ... See more keywords
Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Nephron"
DOI: 10.1159/000516247
Abstract: Pierson syndrome (PIERSS) is a rare autosomal recessive disorder characterized by the combination of congenital nephrotic syndrome (CNS) and extrarenal symptoms including ocular malformations and neurodevelopmental deficits. PIERSS is caused by biallelic pathogenic variants in… read more here.
Keywords: kidney transplantation; severe phenotype; pierson syndrome; syndrome ... See more keywords