Gombos É - Search Results

1

Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing.

Koczok K, Gombos É, Madar L, Török O, Balogh I. Koczok K, et al. Among authors: gombos e. Prenat Diagn. 2018 Aug;38(9):713-719. doi: 10.1002/pd.5319. Epub 2018 Jul 11. Prenat Diagn. 2018. PMID: 29935118

2

Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Ivády G, Koczok K, Madar L, Gombos E, Toth I, Gyori K, Balogh I. Ivády G, et al. Among authors: gombos e. J Med Biochem. 2015 Jan;34(1):46-51. doi: 10.2478/jomb-2014-0055. Epub 2014 Oct 8. J Med Biochem. 2015. PMID: 28356823 Free PMC article.

3

A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy.

Koczok K, Merő G, Szabó GP, Madar L, Gombos É, Ajzner É, Mótyán JA, Hortobágyi T, Balogh I. Koczok K, et al. Among authors: gombos e. Neuromuscul Disord. 2018 Feb;28(2):129-136. doi: 10.1016/j.nmd.2017.12.003. Epub 2017 Dec 7. Neuromuscul Disord. 2018. PMID: 29373175 Free article.

4

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

Szabó T, Orosz P, Balogh E, Jávorszky E, Máttyus I, Bereczki C, Maróti Z, Kalmár T, Szabó AJ, Reusz G, Várkonyi I, Marián E, Gombos É, Orosz O, Madar L, Balla G, Kappelmayer J, Tory K, Balogh I. Szabó T, et al. Among authors: gombos e. Pediatr Nephrol. 2018 Oct;33(10):1713-1721. doi: 10.1007/s00467-018-3992-5. Epub 2018 Jun 28. Pediatr Nephrol. 2018. PMID: 29956005

5

Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.

Ivady G, Madar L, Nagy B, Gonczi F, Ajzner E, Dzsudzsak E, Dvořáková L, Gombos E, Kappelmayer J, Macek M Jr, Balogh I. Ivady G, et al. Among authors: gombos e. J Cyst Fibros. 2011 May;10(3):217-20. doi: 10.1016/j.jcf.2010.12.009. Epub 2011 Feb 4. J Cyst Fibros. 2011. PMID: 21296036 Free article.

6

Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report.

Molnár Z, Balogh L, Kappelmayer J, Madar L, Gombos É, Balogh I. Molnár Z, et al. Among authors: gombos e. EJIFCC. 2017 Mar 8;28(1):85-91. eCollection 2017 Mar. EJIFCC. 2017. PMID: 28439221 Free PMC article.

7

Examination of Y-Chromosomal Microdeletions and Partial Microdeletions in Idiopathic Infertility in East Hungarian Patients.

Mokánszki A, Ujfalusi A, Gombos É, Balogh I. Mokánszki A, et al. Among authors: gombos e. J Hum Reprod Sci. 2018 Oct-Dec;11(4):329-336. doi: 10.4103/jhrs.JHRS_12_18. J Hum Reprod Sci. 2018. PMID: 30787516 Free PMC article.

8

Childhood course of renal insufficiency in a family with a uromodulin gene mutation.

Schäffer P, Gombos E, Meichelbeck K, Kiss A, Hart PS, Bleyer AJ. Schäffer P, et al. Among authors: gombos e. Pediatr Nephrol. 2010 Jul;25(7):1355-60. doi: 10.1007/s00467-009-1436-y. Epub 2010 Feb 12. Pediatr Nephrol. 2010. PMID: 20151160 Free PMC article.

9

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.

Kidd K, Vylet'al P, Schaeffer C, Olinger E, Živná M, Hodaňová K, Robins V, Johnson E, Taylor A, Martin L, Izzi C, Jorge SC, Calado J, Torres RJ, Lhotta K, Steubl D, Gale DP, Gast C, Gombos E, Ainsworth HC, Chen YM, Almeida JR, de Souza CF, Silveira C, Raposeiro R, Weller N, Conlon PJ, Murray SL, Benson KA, Cavalleri GL, Votruba M, Vrbacká A, Amoroso A, Gianchino D, Caridi G, Ghiggeri GM, Divers J, Scolari F, Devuyst O, Rampoldi L, Kmoch S, Bleyer AJ. Kidd K, et al. Among authors: gombos e. Kidney Int Rep. 2020 Jul 3;5(9):1472-1485. doi: 10.1016/j.ekir.2020.06.029. eCollection 2020 Sep. Kidney Int Rep. 2020. PMID: 32954071 Free PMC article.

10

Breast Cancer Screening in High-risk Women During Pregnancy and Lactation.

Portnow LH, Snider LC, Bolivar KE, Bychkovsky BL, Klehm MR, Yeh ED, Gombos EC, Chikarmane SA. Portnow LH, et al. Among authors: gombos ec. J Breast Imaging. 2023 Sep 22;5(5):508-519. doi: 10.1093/jbi/wbad059. J Breast Imaging. 2023. PMID: 38416921

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