Buki G - Search Results

1

Analysis of Gyimes Csango population samples on a high-resolution genome-wide basis.

Bánfai Z, Büki G, Ádám V, Sümegi K, Szabó A, Hadzsiev K, Erős K, Gallyas F, Miseta A, Kásler M, Melegh B. Bánfai Z, et al. Among authors: buki g. BMC Genomics. 2024 Oct 7;25(1):942. doi: 10.1186/s12864-024-10833-x. BMC Genomics. 2024. PMID: 39375616 Free PMC article.

2

Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies.

Büki G, Antal G, Bene J. Büki G, et al. Int J Mol Sci. 2024 Jul 26;25(15):8189. doi: 10.3390/ijms25158189. Int J Mol Sci. 2024. PMID: 39125758 Free PMC article. Review.

3

NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy.

Szalai R, Hadzsiev K, Till A, Fogarasi A, Bodo T, Buki G, Banfai Z, Bene J. Szalai R, et al. Among authors: buki g. Int J Mol Sci. 2024 May 24;25(11):5732. doi: 10.3390/ijms25115732. Int J Mol Sci. 2024. PMID: 38891919 Free PMC article.

4

Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis.

Antal G, Zsigmond A, Till Á, Orsi E, Szanto I, Büki G, Kereskai L, Herbert Z, Hadzsiev K, Bene J. Antal G, et al. Among authors: buki g. Pathol Oncol Res. 2024 May 14;30:1611768. doi: 10.3389/pore.2024.1611768. eCollection 2024. Pathol Oncol Res. 2024. PMID: 38807857 Free PMC article.

5

Copy Number Variations in Neuropsychiatric Disorders.

Büki G, Hadzsiev K, Bene J. Büki G, et al. Int J Mol Sci. 2023 Sep 5;24(18):13671. doi: 10.3390/ijms241813671. Int J Mol Sci. 2023. PMID: 37761973 Free PMC article. Review.

6

Identification of an NF1 Microdeletion with Optical Genome Mapping.

Büki G, Bekő A, Bödör C, Urbán P, Németh K, Hadzsiev K, Fekete G, Kehrer-Sawatzki H, Bene J. Büki G, et al. Int J Mol Sci. 2023 Sep 1;24(17):13580. doi: 10.3390/ijms241713580. Int J Mol Sci. 2023. PMID: 37686382 Free PMC article.

7

Copper-transporting ATPases throughout the animal evolution - From clinics to basal neuron-less animals.

Fodor I, Yañez-Guerra LA, Kiss B, Büki G, Pirger Z. Fodor I, et al. Among authors: buki g. Gene. 2023 Nov 15;885:147720. doi: 10.1016/j.gene.2023.147720. Epub 2023 Aug 18. Gene. 2023. PMID: 37597707 Free article. Review.

8

Down-Syndrome-Related Maternal Dysbiosis Might Be Triggered by Certain Classes of Antibiotics: A New Insight into the Possible Pathomechanisms.

Ternák G, Márovics G, Sümegi K, Bánfai Z, Büki G, Magyari L, Szabó A, Melegh B. Ternák G, et al. Among authors: buki g. Antibiotics (Basel). 2023 Jun 8;12(6):1029. doi: 10.3390/antibiotics12061029. Antibiotics (Basel). 2023. PMID: 37370348 Free PMC article.

9

Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome.

Buki G, Hadzsiev K, Bene J. Buki G, et al. Curr Mol Med. 2023;23(5):433-441. doi: 10.2174/1566524022666220428111943. Curr Mol Med. 2023. PMID: 37038253

10

Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.

Buki G, Szalai R, Pinter A, Hadzsiev K, Melegh B, Rauch T, Bene J. Buki G, et al. Mol Genet Genomic Med. 2023 Jul;11(7):e2166. doi: 10.1002/mgg3.2166. Epub 2023 Mar 21. Mol Genet Genomic Med. 2023. PMID: 36945115 Free PMC article. Review.

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