نتایج جستجو برای: preimplantation genetic testing
تعداد نتایج: 929413 فیلتر نتایج به سال:
Clinical genetic testing began over 30 years ago with the availability of mutation detection for sickle cell disease diagnosis. Since then, the field has dramatically transformed to include gene sequencing, high-throughput targeted genotyping, prenatal mutation detection, preimplantation genetic diagnosis, population-based carrier screening, and now genome-wide analyses using microarrays and ne...
F.Fiorentino,,, A.Biricik, H.Karadayi, H.Berkil, G.Karlikaya, S.Sertyel, D.Podini, M.Baldi, M.C.Magli, L.Gianaroli and S.Kahraman EmbryoGen (Centre for Preimplantation Genetic Diagnosis), Rome, Reproductive Endocrinology and Genetics Unit, Istanbul Memorial Hospital, Istanbul, Turkey and GENOMA (Molecular Genetics Laboratory), Rome, Italy To whom correspondence should be addressed at: EmbryoGen...
Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...
ObjectiveTo apply long-read, third-generation sequencing as a part of general workup strategy for performing structural rearrangement (PGT-SR) and monogenic disease (PGT-M) embryo testing.DesignProspective study.SettingIn vitro fertilization unit.Patient(s)Couples presenting PGT-SR (n = 15) PGT-M 2).Intervention(s)Blastocyst biopsy with molecular testing translocation breakpoints or mutations (...
Abstract Study question Analyze the concordance between nanopore sequencing and MaReCs to validate feasibility of in distinguishing normal embryos from carrier PGT-SR cycles. Summary answer Nanopore is a powerful strategy for accurately nontranslocation translocation precisely localizing breakpoints. What known already Balanced reciprocal (BRT) one most common chromosomal abnormalities that cau...
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