Maász A - Search Results

1

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.

Antal G, Zsigmond A, Till Á, Szabó A, Maász A, Bene J, Hadzsiev K. Antal G, et al. Among authors: maasz a. Int J Mol Sci. 2024 Oct 23;25(21):11400. doi: 10.3390/ijms252111400. Int J Mol Sci. 2024. PMID: 39518953 Free PMC article.

2

[Gene testing in Treacher Collins syndrome].

Zsigmond A, Till Á, Pintér AL, Maász A, Szabó A, Hadzsiev K. Zsigmond A, et al. Among authors: maasz a. Orv Hetil. 2020 Dec 27;161(52):2201-2205. doi: 10.1556/650.2020.31945. Orv Hetil. 2020. PMID: 33361506 Hungarian.

3

Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma.

Maász A, Bodó T, Till Á, Molnár G, Masszi G, Labossa G, Herbert Z, Bene J, Hadzsiev K. Maász A, et al. Int J Mol Sci. 2023 Aug 17;24(16):12886. doi: 10.3390/ijms241612886. Int J Mol Sci. 2023. PMID: 37629066 Free PMC article.

4

Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.

Czakó M, Till Á, Zima J, Zsigmond A, Szabó A, Maász A, Melegh B, Hadzsiev K. Czakó M, et al. Among authors: maasz a. Front Genet. 2021 Apr 14;12:635458. doi: 10.3389/fgene.2021.635458. eCollection 2021. Front Genet. 2021. PMID: 33936165 Free PMC article.

5

TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.

Maasz A, Hadzsiev K, Ripszam R, Zsigmond A, Maka E, Knezy K, Lesch B, Nemeth A, Bene J, Galik B, Gyenesei A, Melegh B. Maasz A, et al. Eur J Med Genet. 2022 Apr;65(4):104471. doi: 10.1016/j.ejmg.2022.104471. Epub 2022 Feb 28. Eur J Med Genet. 2022. PMID: 35240325 Free article.

6

Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor.

Hadzsiev K, Hegyi M, Fogarasi A, Bodó-Baltavári T, Zsigmond A, Maász A, Szabó A, Till Á. Hadzsiev K, et al. Among authors: maasz a. Neuropediatrics. 2023 Oct;54(5):344-346. doi: 10.1055/a-2104-1614. Epub 2023 Jun 1. Neuropediatrics. 2023. PMID: 37263295 Free PMC article.

7

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: maasz a. 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.

8

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. Curr Med Chem. 2008;15(13):1257-62. doi: 10.2174/092986708784534910. Curr Med Chem. 2008. PMID: 18537605 Review.

9

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: maasz a. JIMD Rep. 2013;9:105-111. doi: 10.1007/8904_2012_187. Epub 2012 Nov 2. JIMD Rep. 2013. PMID: 23430555 Free PMC article.

10

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: maasz a. 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.

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

45 results

Search Page

Filters