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Preimplantation Genetic Diagnosis
Donald School Journal of Ultrasound in Obstetrics and Gynecology, 2022 Preimplantation genetic diagnosis or screening is a very early form of prenatal diagnosis that allows embryos to be tested for genetic disorders before pregnancy has begun. The procedure offers an advantage for couples with genetic disorders whose offspring has an increased risk of a specific genetic condition by helping in the delivery of a healthy ...
Pavelić, Krešimir +1 more
openaire +1 more source
Advanced Science, EarlyView.An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee +11 more
wiley +1 more source
, 2009 The preimplantation mammalian embryo is sensitive to its immediate surroundings: alterations to its in vitro or in vivo environment can affect not only the immediate events of blastocyst formation, but can also give rise to long-term phenotypic ...
Williams, Charlotte Lucy
core +2 more sources
浙江大学学报. 农业与生命科学版Following sperm-egg fusion, animal embryos undergo severe epigenetic reprogramming during the early development, encompassing DNA methylation, histone modification, as well as chromatin remodeling, to ensure that highly differentiated gametes form ...
LI Xiaoteng, ZHAO Panpan, ZHANG Kun
doaj +1 more source
Preimplantation HLA Testing [PDF]
JAMA, 2004 Preimplantation genetic diagnosis (PGD) has become an option for couples for whom termination of an affected pregnancy identified by traditional prenatal diagnosis is unacceptable and is applicable to indications beyond those of prenatal diagnosis, such as HLA matching to affected siblings to provide stem cell transplantation.To describe ...
Yury, Verlinsky +5 more
openaire +2 more sources
Advanced Science, EarlyView.Phase separation of SF3B1 acts as a key regulatory mechanism for dynamic alternative splicing throughout early mouse embryogenesis. Its absence triggers extensive splicing errors, which induce persistent DNA damage, defective cell cycle progression, and failed cell lineage commitment, and ultimately hinder the normal growth and development of ...
Kang Zhao +15 more
wiley +1 more source
Investigation of DNA repair in human oocytes and preimplantation embryos [PDF]
, 2010 DNA repair genes are expressed in mammalian embryos and in human germinal vesicles, however, little is known about DNA repair in human preimplantation embryos.
Jaroudi, S.
core
SAV1 in Cooperation With FKBP52 Participates in Implantation
Advanced Science, EarlyView.The MST‐SAV1 complex modulates FKBP52 phosphorylation to fine‐tune PR activity, ensuring timely uterine transition to receptivity under estrogen signaling for implantation. Stromal SAV1 scaffolds MST1/2‐mediated FKBP52 phosphorylation via noncanonical Hippo to promote PR activity.
Yuhan Shao +10 more
wiley +1 more source
Preimplantation Genetic Screening: A Practical Guide
, 2013 The past several decades have seen tremendous advances in the field of medical genetics. The application of genetic technologies to the field of reproductive medicine has ushered in a new era of medicine that is likely to greatly expand in the coming ...
William H. Kutteh +2 more
core +1 more source
Ethical attitudes of German specialists in reproductive medicine and legal regulation of preimplantation sex selection in Germany. [PDF]
PLoS ONE, 2013 BACKGROUND: Because of its ethical and social implications, preimplantation sex selection is frequently the subject of debates. METHODS: In 2006, we surveyed specialists in reproductive medicine in Germany using an anonymous questionnaire, including ...
Miriam Wilhelm +4 more
doaj +1 more source