Preimplantation Genetic Testing for Rare Inherited Disease of MMA-CblC: an Unaffected Live Birth
Author:
Publisher
Springer Science and Business Media LLC
Subject
Obstetrics and Gynecology
Link
https://link.springer.com/content/pdf/10.1007/s43032-021-00621-3.pdf
Reference31 articles.
1. Thornhill AR, deDie-Smulders CE, Geraedts JP, et al. ESHRE PGD Consortium “Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS).” Hum Reprod. 2005;1:35–48.
2. Harton G, Braude P, Lashwood A, Schmutzler A, Traeger-Synodinos J, Wilton L, et al. ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. Hum Reprod. 2011;26:14–24.
3. Carvalho F, Moutou C, Dimitriadou E, et al. ESHRE PGT consortium good practice recommendations for the detection of monogenic disorders. Hum Reprod Open. 2020;2020:hoaa018.
4. Melnikova I. Rare diseases and orphan drugs. Nat Rev Drug Discov. 2012;11:267–8.
5. Chang LJ, Huang CC, Yi-Yi T, et al. Blastocyst biopsy and vitrification are effective for preimplantation genetic diagnosis of monogenic diseases. Hum Reprod. 2013;28:1435–44.
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