Genetic testing in pediatrics - a narrative essay of challenges and possibilities in Romania-Reference-Cited by-同舟云学术

Genetic testing in pediatrics - a narrative essay of challenges and possibilities in Romania

Published:2019-10-01 Issue:4 Volume:27 Page:355-359
ISSN:2284-5623
Container-title:Revista Romana de Medicina de Laborator
language:en
Short-container-title:

Author:

Duicu Carmen¹

Affiliation:

1. 1 Pediatric Department , George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș , Romania

Publisher

Walter de Gruyter GmbH

Link

https://www.sciendo.com/pdf/10.2478/rrlm-2019-0041

Reference24 articles.

1. 1 Preston R, Stuart HM, Lennon R. Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how? Pediatr Nephrol. 2019 Feb;34(2):195-210. DOI: 10.1007/s00467-017-3838-610.1007/s00467-017-3838-6

2. 2. Gáll Z, Kiss É, Tory K, Fintha A, Duicu C. The importance of genetic testing in adolescent-onset steroid-resistant nephrotic syndrome - Case report. Rev Romana Med Lab. 2014;22(3):311-9. DOI: 10.2478/rrlm-2014-003110.2478/rrlm-2014-0031

3. 3. Crauciuc GA, Tripon F, Bogliş A, Făgărăşan A, Bănescu C. Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect. Rev Romana Med Lab. 2018;26(4):461-70. DOI: 10.2478/rrlm-2018-003210.2478/rrlm-2018-0032

4. 4. Bogliş A, Tripon F, Bănescu C. The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability. Rev Romana Med Lab. 2018;26(4):471-7. DOI: 10.2478/rrlm-2018-003310.2478/rrlm-2018-0033

5. 5. Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 Jun 11. doi: 10.1038/s41436-019-0554-6. DOI: 10.1038/s41436-019-0554-610.1038/s41436-019-0554-6.DOI:10.1038/s41436-019-0554-6

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