Hadzsiev K - Search Results

1

Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods.

Baráti L, Maász A, Mikó A, Bércesi É, Kalbani SA, Bene J, Kovács S, Mangel L, Hadzsiev K. Baráti L, et al. Among authors: hadzsiev k. Pathol Oncol Res. 2024 Aug 1;30:1611813. doi: 10.3389/pore.2024.1611813. eCollection 2024. Pathol Oncol Res. 2024. PMID: 39148954 Free PMC article.

2

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.

Dangouloff T, Vrščaj E, Servais L, Osredkar D; SMA NBS World Study Group. Dangouloff T, et al. Neuromuscul Disord. 2021 Jun;31(6):574-582. doi: 10.1016/j.nmd.2021.03.007. Epub 2021 Apr 7. Neuromuscul Disord. 2021. PMID: 33985857

3

[Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome].

Kárteszi J, Hollódy K, Bene J, Morava E, Hadzsiev K, Czakó M, Melegh B, Kosztolányi G. Kárteszi J, et al. Among authors: hadzsiev k. Orv Hetil. 2004 Apr 25;145(17):909-11. Orv Hetil. 2004. PMID: 15170968 Hungarian.

4

Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation.

Maász A, Komlósi K, Hadzsiev K, Szabó Z, Willems PJ, Gerlinger I, Kosztolányi G, Méhes K, Melegh B. Maász A, et al. Among authors: hadzsiev k. Curr Med Chem. 2008;15(13):1257-62. doi: 10.2174/092986708784534910. Curr Med Chem. 2008. PMID: 18537605 Review.

5

Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees.

Hadzsiev K, Maasz A, Kisfali P, Kalman E, Gomori E, Pal E, Berenyi E, Komlosi K, Melegh B. Hadzsiev K, et al. Neuromolecular Med. 2010 Sep;12(3):277-84. doi: 10.1007/s12017-010-8115-9. Epub 2010 May 26. Neuromolecular Med. 2010. PMID: 20502985

6

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

Hadzsiev K, Polgar N, Bene J, Komlosi K, Karteszi J, Hollody K, Kosztolanyi G, Renieri A, Melegh B. Hadzsiev K, et al. J Hum Genet. 2011 Mar;56(3):183-7. doi: 10.1038/jhg.2010.156. Epub 2010 Dec 16. J Hum Genet. 2011. PMID: 21160487

7

Mutations of the apolipoprotein A5 gene with inherited hypertriglyceridaemia: review of the current literature.

Melegh BI, Duga B, Sümegi K, Kisfali P, Maász A, Komlósi K, Hadzsiev K, Komoly S, Kosztolányi G, Melegh B. Melegh BI, et al. Among authors: hadzsiev k. Curr Med Chem. 2012;19(36):6163-70. doi: 10.2174/092986712804485719. Curr Med Chem. 2012. PMID: 23150946 Review.

8

Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases.

Komlósi K, Maász A, Kisfali P, Hadzsiev K, Bene J, Melegh BI, Melegh B, Ablonczy M, Németh K, Fekete G. Komlósi K, et al. Among authors: hadzsiev k. JIMD Rep. 2013;9:105-111. doi: 10.1007/8904_2012_187. Epub 2012 Nov 2. JIMD Rep. 2013. PMID: 23430555 Free PMC article.

9

Erratum to: Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases.

Komlósi K, Maász A, Kisfali P, Hadzsiev K, Bene J, Melegh BI, Ablonczy M, Németh K, Fekete G, Melegh B. Komlósi K, et al. Among authors: hadzsiev k. JIMD Rep. 2013;9:E1. doi: 10.1007/978-3-642-35518-9_195. Epub 2012 Nov 2. JIMD Rep. 2013. PMID: 23832234 Free PMC article. No abstract available.

10

[Genetic testing in hereditary spastic paraplegia].

Hadzsiev K, Balikó L, Komlósi K, Lőcsei-Fekete A, Csábi G, Bene J, Kisfali P, Melegh B. Hadzsiev K, et al. Orv Hetil. 2015 Jan 18;156(3):113-7. doi: 10.1556/OH.2015.30014. Orv Hetil. 2015. PMID: 25577683 Hungarian.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

101 results

Search Page

Filters