scholarly journals Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report

2021 ◽  
Vol 9 (29) ◽  
pp. 8797-8803
Author(s):  
Adina Neumann ◽  
Miguel Angel Alcantara-Ortigoza ◽  
Ariadna González-del Angel ◽  
Nestor Alejandro Zarate Díaz ◽  
Javier Sam Santana ◽  
...  
2018 ◽  
Vol 35 (8) ◽  
pp. 1457-1472 ◽  
Author(s):  
Ludmila Volozonoka ◽  
Dmitry Perminov ◽  
Liene Korņejeva ◽  
Baiba Alkšere ◽  
Natālija Novikova ◽  
...  

Reproduction ◽  
2020 ◽  
Vol 160 (5) ◽  
pp. A45-A58
Author(s):  
Martine De Rycke ◽  
Veerle Berckmoes ◽  
Anick De Vos ◽  
Stefanie Van De Voorde ◽  
Pieter Verdyck ◽  
...  

Thirty years of rapid technological advances in the field of genetic testing and assisted reproduction have reshaped the procedure of preimplantation genetic testing (PGT). The development of whole genome amplification and genome-wide testing tools together with the implementation of optimal hormonal stimulation protocols and more efficient cryopreservation methods have led to more accurate diagnoses and improved clinical outcomes. In addition, the shift towards embryo biopsy at day 5/6 has changed the timeline of a typical PGT clinical procedure. In this paper, we present an up-to-date overview of the different steps in PGT from patient referral to baby follow-up.


Author(s):  
Е.В. Соловьёва ◽  
О.Р. Канбекова ◽  
Д.И. Жигалина ◽  
Н.А. Скрябин ◽  
Л.И. Минайчева

В рамках подготовительных этапов преимплантационного тестирования 9 моногенных заболеваний (ПГT-М) методом гнездовой ПЦР проанализированы 144 локуса (STR и патогенные варианты)109 единичных клеток и 24 образцов продуктов полногеномной амплификации (ПГА) нескольких клеток. Pre-examination single cell validation was performed for preimplantation genetic testing (PGT-M) for 9 monogenic disorders by nested PCR for STR and pathogenic variants. Totally 109 single cells and 24 WGA products (by MDA) were analyzed.


2019 ◽  
Vol 7 (23) ◽  
pp. 4029-4035
Author(s):  
Adina Neumann ◽  
Miguel Ángel Alcántara-Ortigoza ◽  
Ariadna González-del Ángel ◽  
Felipe Camargo-Diaz ◽  
Esther López-Bayghen

RSC Advances ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 4617-4621
Author(s):  
Jing Tu ◽  
Yi Qiao ◽  
Yuhan Luo ◽  
Naiyun Long ◽  
Zuhong Lu

Monitoring multiple displacement amplification by fluorescence signals.


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