The importance to track variants in genes causing recessive disorders within the family: a FH/sitosterolemia clinical case
Sign Up to like & getrecommendations! Published in 2018 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2018.06.220
Abstract: With thanks to the EAS for support in the form of a Young Investigator Fellowship; Abrantes LB. acknowledges grant BioMolecular/09/2017 read more here.
Keywords: variants genes; importance track; genes causing; track variants ... See more keywords
Carrier screening for recessive disorders
Sign Up to like & getrecommendations! Published in 2019 at "Nature Reviews Genetics"
DOI: 10.1038/s41576-019-0134-2
Abstract: Technological and other advances over the past decades have led to the discovery of thousands of gene–disease associations for autosomal and X-linked recessive Mendelian disorders. Combined with recent improvements in assessing individual variants in each… read more here.
Keywords: carrier screening; recessive disorders; carrier; screening recessive ... See more keywords
How does carrier status for recessive disorders influence reproductive decisions? A systematic review of the literature
Sign Up to like & getrecommendations! Published in 2019 at "Expert Review of Molecular Diagnostics"
DOI: 10.1080/14737159.2020.1690456
Abstract: ABSTRACT Introduction: Carrier screening for recessive disorders is undertaken by prospective parents to inform their reproductive decisions. With the growing availability of affordable and comprehensive expanded carrier screening (ECS), it is expected that carrier screening… read more here.
Keywords: carrier screening; literature; recessive disorders; carrier ... See more keywords
Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1047474
Abstract: Background: In pregnant women at risk of autosomal recessive (AR) disorders, prenatal diagnosis of AR disorders primarily involves invasive procedures, such as chorionic villus sampling and amniocentesis. Methods: We collected blood samples from four pregnant… read more here.
Keywords: prenatal testing; non invasive; invasive prenatal; pregnant women ... See more keywords
Ocular findings and genomics of X-linked recessive disorders: A review
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_252_22
Abstract: Advent of new sequencing technologies and modern diagnostic procedures has opened the door for a deeper understanding of disorders about which little was known previously. Discovery of novel genes, new genetic variants in previously known… read more here.
Keywords: genomics linked; disorders review; findings genomics; ocular findings ... See more keywords