Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)
Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers.
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2017-03-01
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| Series: | Romanian Journal of Laboratory Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/rrlm-2017-0003 |
| _version_ | 1818583933038624768 |
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| author | Bucerzan Simona Popp Radu Anghel Vlad Raluca Maria Lazea Cecilia Nicolaescu Radu Grigorescu-Sido Paula |
| author_facet | Bucerzan Simona Popp Radu Anghel Vlad Raluca Maria Lazea Cecilia Nicolaescu Radu Grigorescu-Sido Paula |
| author_sort | Bucerzan Simona |
| collection | DOAJ |
| description | Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers. |
| first_indexed | 2024-12-16T08:13:09Z |
| format | Article |
| id | doaj.art-72d9a5fdf1394a2484b29219d3cd54b1 |
| institution | Directory Open Access Journal |
| issn | 2284-5623 |
| language | English |
| last_indexed | 2024-12-16T08:13:09Z |
| publishDate | 2017-03-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Romanian Journal of Laboratory Medicine |
| spelling | doaj.art-72d9a5fdf1394a2484b29219d3cd54b12022-12-21T22:38:19ZengSciendoRomanian Journal of Laboratory Medicine2284-56232017-03-01251273510.1515/rrlm-2017-0003rrlm-2017-0003Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)Bucerzan Simona0Popp Radu Anghel1Vlad Raluca Maria2Lazea Cecilia3Nicolaescu Radu4Grigorescu-Sido Paula5University of Medicine and Pharmacy „Iuliu Hațieganu”, Centre of Genetic Diseases, Emergency Pediatric Hospital, Cluj-Napoca, RomaniaUniversity of Medicine and Pharmacy „Iuliu Hațieganu”, Medical Genetics Department, Emergency Pediatric Hospital, Cluj-Napoca, RomaniaCarol Davila University of Medicine and Pharmacy, Department of Pediatrics, Grigore Alexandrescu Emergency Pediatric Hospital, Bucharest, RomaniaUniversity of Medicine and Pharmacy „Iuliu Hațieganu”, Medical Genetics Department, Emergency Pediatric Hospital, Cluj-Napoca, RomaniaRadiology and Medical Imaging Laboratory, Fundeni Clinical Institute, Bucharest, RomaniaUniversity of Medicine and Pharmacy „Iuliu Hațieganu”, Centre of Genetic Diseases, Emergency Pediatric Hospital, Cluj-Napoca, RomaniaAim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers.https://doi.org/10.1515/rrlm-2017-0003mthfr genepolymorphismdown syndrome |
| spellingShingle | Bucerzan Simona Popp Radu Anghel Vlad Raluca Maria Lazea Cecilia Nicolaescu Radu Grigorescu-Sido Paula Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study) Romanian Journal of Laboratory Medicine mthfr gene polymorphism down syndrome |
| title | Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study) |
| title_full | Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study) |
| title_fullStr | Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study) |
| title_full_unstemmed | Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study) |
| title_short | Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study) |
| title_sort | evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 a monocentric study |
| topic | mthfr gene polymorphism down syndrome |
| url | https://doi.org/10.1515/rrlm-2017-0003 |
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