Bene J - Search Results

1

Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report.

Pálla S, Anker P, Farkas K, Plázár D, Kiss S, Marschalkó P, Szalai Z, Bene J, Hadzsiev K, Maróti Z, Kalmár T, Medvecz M. Pálla S, et al. Among authors: bene j. BMC Pediatr. 2023 Mar 8;23(1):110. doi: 10.1186/s12887-023-03920-7. BMC Pediatr. 2023. PMID: 36890482 Free PMC article.

2

[Neurofibromatosis-1 microdeletion syndrome.].

Büki G, Till Á, Zsigmond A, Bene J, Hadzsiev K. Büki G, et al. Among authors: bene j. Orv Hetil. 2022 Dec 18;163(51):2041-2051. doi: 10.1556/650.2022.32673. Print 2022 Dec 18. Orv Hetil. 2022. PMID: 36528827 Review. Hungarian.

3

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. Among authors: bene j. Curr Mol Med. 2023;23(5):433-441. doi: 10.2174/1566524022666220428111943. Curr Mol Med. 2023. PMID: 37038253

4

Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly.

Szalai R, Till A, Gyenesei A, Bene J, Hadzsiev K. Szalai R, et al. Among authors: bene j. Mol Genet Metab Rep. 2024 Jan 18;38:101056. doi: 10.1016/j.ymgmr.2024.101056. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469100 Free PMC article.

5

Copy Number Variations in Neuropsychiatric Disorders.

Büki G, Hadzsiev K, Bene J. Büki G, et al. Among authors: bene j. 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

Acute stroke in patients taking an oral anticoagulant: impact of clinical pharmacist's intervention on pharmacovigilance reporting.

Thillard EM, Rousselière C, Béné J, Caparros F, Bodenant M, Odou P, Gautier S, Décaudin B. Thillard EM, et al. Among authors: bene j. Acta Clin Belg. 2023 Dec;78(6):478-485. doi: 10.1080/17843286.2023.2261716. Epub 2023 Oct 16. Acta Clin Belg. 2023. PMID: 37746693

7

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. Among authors: bene j. Int J Mol Sci. 2023 Sep 1;24(17):13580. doi: 10.3390/ijms241713580. Int J Mol Sci. 2023. PMID: 37686382 Free PMC article.

8

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. Among authors: bene j. Int J Mol Sci. 2023 Aug 17;24(16):12886. doi: 10.3390/ijms241612886. Int J Mol Sci. 2023. PMID: 37629066 Free PMC article.

9

Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene.

Veres K, Bene J, Hadzsiev K, Garami M, Pálla S, Happle R, Medvecz M, Szalai ZZ. Veres K, et al. Among authors: bene j. Int J Mol Sci. 2023 Jul 29;24(15):12154. doi: 10.3390/ijms241512154. Int J Mol Sci. 2023. PMID: 37569527 Free PMC article.

10

Could direct oral anticoagulants induce non-hemorrhagic joint disorders?

Béné J, Boinet A, Rochoy M, Rousselin C, Yelnik C, Peyrouzet H, Ruellan AL, Fresse A, Gautier S, Lambert M. Béné J, et al. Therapie. 2023 Jul 3:S0040-5957(23)00086-0. doi: 10.1016/j.therap.2023.06.006. Online ahead of print. Therapie. 2023. PMID: 37460383 No abstract available.

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