The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta
Sign Up to like & getrecommendations! Published in 2019 at "Systems Biology in Reproductive Medicine"
DOI: 10.1080/19396368.2018.1472315
Abstract: ABSTRACT Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either… read more here.
Keywords: snp haplotyping; pgd; sperm; single sperm ... See more keywords
Affected-embryo-based SNP haplotyping with NGS for the preimplantation genetic testing of Marfan syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Systems Biology in Reproductive Medicine"
DOI: 10.1080/19396368.2021.1926574
Abstract: ABSTRACT Marfan syndrome (MFS), an autosomal dominant heritable disease of the connective tissue, is characterized by broad clinical manifestations in the musculoskeletal, cardiovascular, pulmonary, and ocular systems. In this study, a male patient with MFS… read more here.
Keywords: fbn1; genetic testing; snp haplotyping; marfan syndrome ... See more keywords