Výsledky vyhledávání - "D Blesa-Jarque"

Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses

Publikováno v: Human Reproduction. 38:762-775

STUDY QUESTION Can chromosomal abnormalities beyond copy-number aneuploidies (i.e. ploidy level and microdeletions (MDs)) be detected using a preimplantation genetic testing (PGT) platform? SUMMARY ANSWER The proposed integrated approach accurately a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::22f2ec413b1993e24dbc4a6868d7870b
https://doi.org/10.1093/humrep/dead033

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P-555 Improved clinical validity of Preimplantation Genetic Testing for Aneuploidy (PGT-A) using a next-generation sequencing workflow for simultaneous detection of aneuploidy, ploidy and common pathogenic microdeletions

Autor: S Caroselli, M Figliuzzi, F Cogo, P Zambon, F Favero, A Anastasi, F Capodanno, A Gallinelli, D Cimadomo, L Rienzi, F.M Ubaldi, J Miravet-Valenciano, D Blesa-Jarque, C Simon, A Capalbo

Publikováno v: Human Reproduction. 37

Study question Can chromosomal abnormalities beyond aneuploidies (i.e., ploidy and microdeletions, MD) be detected on a single trophectoderm (TE) embryo biopsy using a next-generation sequencing (NGS)-based workflow? Summary answer This NGS-based int

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8eb673d2752fae2d4e2ebae36f4dc90e
https://doi.org/10.1093/humrep/deac107.513

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P-536 Pre-selected for an award: Validation of a Next Generation Sequencing (NGS) workflow integrating simultaneous analysis of ploidy, microdeletions and de novo monogenic diseases for expanded preimplantation genetic testing (PGT)

Autor: Antonio Capalbo, Carlos Simón, Silvia Caroselli, D Blesa Jarque, Cristina Patassini, M Costa, F Cogo, Carolina Rubio, J A Miravet Valenciano, Laura Girardi, I Pergher, Davide Bau, J Jimenez Almazan, Maurizio Poli

Publikováno v: Human Reproduction. 36

Study question Can major de novo genetic and chromosomal abnormalities (i.e., ploidy, microdeletions) be effectively tested on a single embryo biopsy specimen using an integrated NGS approach? Summary answer The integrated NGS workflow provided high

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0db1cf91ba32279d0ae4ff2cf92916d7
https://doi.org/10.1093/humrep/deab125.055

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