Acceso abierto

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

   | 04 nov 2019

Cite

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/s00467-017-3838-6Open DOISearch in Google Scholar

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-2014-0031Open DOISearch in Google Scholar

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-2018-0032Open DOISearch in Google Scholar

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-2018-0033Open DOISearch in Google Scholar

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/s41436-019-0554-6Open DOISearch in Google Scholar

6. Gheldof A, Seneca S, Stouffs K, et al. Clinical implementation of gene panel testing for lysosomal storage diseases. Mol Genet Genomic Med. 2019;7(2):e00527. DOI: 10.1002/mgg3.52710.1002/mgg3.527Open DOISearch in Google Scholar

7. Drugan C, Drugan T, Caillaud C, Grigorescu-Sido P, Nistor T, Crăciun AM. Laboratory diagnosis and follow-up of Romanian Gaucher disease patients. Rev Romana Med Lab. 2017;25(3):275-85. DOI: 10.1515/rrlm-2017-001810.1515/rrlm-2017-0018Open DOISearch in Google Scholar

8. Balestrini S, Sisodiya SM. Pharmacogenomics in epilepsy. Neurosci Lett. 2018 Feb 22;667:27-39. DOI: 10.1016/j.neulet.2017.01.01410.1016/j.neulet.2017.01.014Search in Google Scholar

9. Todoran Butila A, Sin A, Racoş Szabo E, Micheu C, Moldovan VG, Voidazan S, et al. ABCB1 gene polymorphisms is not associated with drug-resistant epilepsy in Romanian children. Rev Romana Med Lab. 2015;23(4):469-82. DOI: 10.1515/rrlm-2015-003710.1515/rrlm-2015-0037Open DOISearch in Google Scholar

10. Sabin O, Bocșan IC, Trifa A, Major ZZ, Heghes SC, Brusturean Bota E, et al. Correlation between ABCB1 gene polymorphisms, antiepileptic drug concentrations and treatment response. Rev Romana Med Lab. 2018;26(4):479-87. DOI: 10.2478/rrlm-2018-001210.2478/rrlm-2018-0012Search in Google Scholar

11. Kratz CP, Franke L, Peters H, et al. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes. Br J Cancer. 2015;112(8):1392-7. DOI: 10.1038/bjc.2015.7510.1038/bjc.2015.75Search in Google Scholar

12. Chida A, Shintani M, Matsushita Y, Sato H, Eitoku T, Nakayama T, et al. Mutations of NOTCH3 in childhood pulmonary arterial hypertension. Mol Genet Genomic Med. 2014;2(3):229-39. DOI: 10.1002/mgg3.5810.1002/mgg3.58Open DOISearch in Google Scholar

13. Zhu N, Gonzaga-Jauregui C, Welch CL, et al. Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. Circ Genom Precis Med. 2018;11(4):e001887. DOI: 10.1161/CIRCGEN.117.00188710.1161/CIRCGEN.117.001887Open DOISearch in Google Scholar

14. Muntean I, Şuteu C, Togănel R, Bănescu C. Association between MDR1 gene polymorphism and clinical course of pediatric pulmonary arterial hypertension. Rev Romana Med Lab. 2018;26(3):305-12. DOI: 10.2478/rrlm-2018-002510.2478/rrlm-2018-0025Open DOISearch in Google Scholar

15. Jinca C, Petrescu CAM, Boeriu E, Oprisoni A, Balint-Gib L, Baica M, et al. The impact of immunological and biomolecular investigations on the outcome of children with acute lymphoblastic leukemia - experience of IIIrd Paediatric Clinic Timisoara. Rev Romana Med Lab. 2018;26(1):77-85. DOI: 10.1515/rrlm-2017-002910.1515/rrlm-2017-0029Open DOISearch in Google Scholar

16. Tripon F, Crauciuc GA, Moldovan VG, Bogliș A, Benedek IJ, Lázár E, et al. Simultaneous FLT3, NPM1 and DNMT3A mutations in adult patients with acute myeloid leukemia - case study. Rev Romana Med Lab. 2019;27(3):245-54. DOI: 10.2478/rrlm-2019-002210.2478/rrlm-2019-0022Open DOISearch in Google Scholar

17. Oltean A, Chincesan MI, Marginean O, Horvath E. Myelodysplastic syndrome with myelofibrosis in a 12-year-old patient - A case report. Rev Romana Med Lab. 2018;26(1):95-103. DOI: 10.1515/rrlm-2017-003410.1515/rrlm-2017-0034Open DOISearch in Google Scholar

18. Cinteza EE, Cinteza M. Biomarkers in Obesity. Rev Romana Med Lab. 2018;26(3):353-8. DOI: 10.2478/rrlm-2018-002710.2478/rrlm-2018-0027Search in Google Scholar

19. Duicu C, Mărginean CO, Voidăzan S, Tripon F, Bănescu C. FTO rs 9939609 SNP Is Associated With Adiponectin and Leptin Levels and the Risk of Obesity in a Cohort of Romanian Children Population. Medicine (Baltimore). 2016 May;95(20):e3709. DOI: 10.1097/MD.000000000000370910.1097/MD.0000000000003709Open DOISearch in Google Scholar

20. Mărginean CO, Bănescu C, Duicu C, Voidăzan S, Mărginean C. Angiotensin-converting enzyme gene insertion/deletion polymorphism in nutritional disorders in children. Eur J Nutr. 2015 Dec;54(8):1245-54. DOI: 10.1007/s00394-014-0802-010.1007/s00394-014-0802-0Search in Google Scholar

21. Almeida SM, Furtado JM, Mascarenhas P, Ferraz ME, Ferreira JC, Monteiro MP et al. Association between LEPR, FTO, MC4R, and PPARG-2 polymorphisms with obesity traits and metabolic phenotypes in school-aged children. Endocrine. 2018;60(3):466-78. DOI: 10.1007/s12020-018-1587-310.1007/s12020-018-1587-3Open DOISearch in Google Scholar

22. Lazăr C, Popp R, Al-Khzouz C, Mihuț G, Grigorescu-Sido P. GJB2 and GJB6 genes mutations in children with non-syndromic hearing loss. Rev Romana Med Lab. 2017;25(1):37-46. DOI: 10.1515/rrlm-2017-000410.1515/rrlm-2017-0004Open DOISearch in Google Scholar

23. Rădulescu L, Mârţu C, Birkenhäger R, Cozma S, Ungureanu L, Laszig R. Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania. Int J Pediatr Otorhinolaryngol. 2012 Jan;76(1):90-4. DOI: 10.1016/j.ijporl.2011.10.00710.1016/j.ijporl.2011.10.007Open DOISearch in Google Scholar

24. Dragomir C, Ionescu Ionescu A, Savu L, Severin E. Detection of the GJB2 gene mutations in two children with hearing impairment. Rev Romana Med Lab. 2015;23(4):495-9. DOI: 10.1515/rrlm-2015-004710.1515/rrlm-2015-0047Open DOISearch in Google Scholar

eISSN:
2284-5623
Idioma:
Inglés
Calendario de la edición:
4 veces al año
Temas de la revista:
Life Sciences, Molecular Biology, Biochemistry, Human Biology, Microbiology and Virology