A preimplantation genetic testing of monogenic diseases. Description of clinical case
- 作者: Kogan I.Y.1, Iakovlev P.P.1, Gzgzyan A.M.1, Mekina I.D.1, Maretina M.A.1, Ivaschenko T.E.1, Misharina E.V.1, Krikheli I.O.1
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隶属关系:
- Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
- 期: 卷 67, 编号 1 (2018)
- 页面: 92-95
- 栏目: Articles
- URL: https://bakhtiniada.ru/jowd/article/view/8371
- DOI: https://doi.org/10.17816/JOWD67192-95
- ID: 8371
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Preimplantation genetic testing performed to analyze the chromosomal structural rearrangements, monogenic/single gene defects and aneuploidies. The aim of this study is to show the discussion of a clinical case of preimplantation genetic testing in the family of SMN1 gene mutation carriers with the subsequent birth of a healthy child.
作者简介
Igor Kogan
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
编辑信件的主要联系方式.
Email: ikogan@mail.ru
PhD, AM RAM, Scientific Secretary
俄罗斯联邦, Saint PetersburgPavel Iakovlev
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: iakovlevpp@gmail.com
PhD student
俄罗斯联邦, Saint PetersburgAlexander Gzgzyan
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: iagmail@ott.ru
MD, Head of Department Reproductive Technologies
俄罗斯联邦, Saint PetersburgIrina Mekina
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: iagmail@ott.ru
Candidate of Biological Sciences. Research fellow of Department Reproductive Technologies
俄罗斯联邦, Saint PetersburgMarianna Maretina
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: marianna0204@gmail.com
Junior Research Associate of the Laboratory of Prenatal Diagnostics of Congenial and Hereditary Diseases
俄罗斯联邦, Saint PetersburgTatyana Ivaschenko
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: marianna0204@gmail.com
Dr. Sci, Professor, Leading Researcher of the Laboratory of Prenatal Diagnostics of Congenial and Hereditary Diseases
俄罗斯联邦, Saint PetersburgElena Misharina
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: mishellena@gmail.com
PhD, Senior Researcher at the Department of Endocrinology
俄罗斯联邦, Saint PetersburgInna Krikheli
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: iagmail@ott.ru
MD, Research fellow of Department Reproductive Technologies
俄罗斯联邦, Saint Petersburg参考
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