Szakszon K - Search Results

1

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.

Kozma K, Bembea M, Jurca CM, Ioana M, Streață I, Şoşoi SŞ, Pirvu A, Petchesi CD, Szilágyi A, Sava CN, Jurca A, Ujfalusi A, Szűcs Z, Szakszon K. Kozma K, et al. Among authors: szakszon k. Genes (Basel). 2021 Oct 23;12(11):1674. doi: 10.3390/genes12111674. Genes (Basel). 2021. PMID: 34828280 Free PMC article. Review.

2

[Detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation].

Szabó GP, Bessenyei B, Balogh E, Ujfalusi A, Szakszon K, Oláh E. Szabó GP, et al. Among authors: szakszon k. Orv Hetil. 2010 Jul 4;151(27):1091-8. doi: 10.1556/OH.2010.28911. Orv Hetil. 2010. PMID: 20558358 Hungarian.

3

[Deletion 15q26 syndrome].

Szakszon K, Ujfalusi A, Balogh E, Mogyorósy G, Felszeghy E, Szilvássy J, Horkay E, Berényi E, Merő G, Knegt AC. Szakszon K, et al. Orv Hetil. 2014 Mar 2;155(9):362-4. doi: 10.1556/OH.2014.29826. Orv Hetil. 2014. PMID: 24566701 Hungarian.

4

Clinical and genetic characteristics of craniosynostosis in Hungary.

Bessenyei B, Nagy A, Szakszon K, Mokánszki A, Balogh E, Ujfalusi A, Tihanyi M, Novák L, Bognár L, Oláh É. Bessenyei B, et al. Among authors: szakszon k. Am J Med Genet A. 2015 Dec;167A(12):2985-91. doi: 10.1002/ajmg.a.37298. Epub 2015 Aug 20. Am J Med Genet A. 2015. PMID: 26289989

5

Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.

Nagy O, Szakszon K, Biró BO, Mogyorósy G, Nagy D, Nagy B, Balogh I, Ujfalusi A. Nagy O, et al. Among authors: szakszon k. J Biotechnol. 2019 Jun 20;299:86-95. doi: 10.1016/j.jbiotec.2019.04.025. Epub 2019 May 1. J Biotechnol. 2019. PMID: 31054299

6

22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum.

Ujfalusi A, Nagy O, Bessenyei B, Lente G, Kántor I, Borbély ÁJ, Szakszon K. Ujfalusi A, et al. Among authors: szakszon k. Mol Syndromol. 2020 Jul;11(3):146-152. doi: 10.1159/000507103. Epub 2020 Apr 4. Mol Syndromol. 2020. PMID: 32903739 Free PMC article.

7

Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary.

Szűcs Z, Fitala R, Nyuzó ÁR, Fodor K, Czemmel É, Vrancsik N, Bessenyei M, Szabó T, Szakszon K, Balogh I. Szűcs Z, et al. Among authors: szakszon k. Genes (Basel). 2021 Aug 27;12(9):1331. doi: 10.3390/genes12091331. Genes (Basel). 2021. PMID: 34573312 Free PMC article.

8

MED13L-related intellectual disability due to paternal germinal mosaicism.

Bessenyei B, Balogh I, Mokánszki A, Ujfalusi A, Pfundt R, Szakszon K. Bessenyei B, et al. Among authors: szakszon k. Cold Spring Harb Mol Case Stud. 2022 Jan 10;8(1):a006124. doi: 10.1101/mcs.a006124. Print 2022 Jan. Cold Spring Harb Mol Case Stud. 2022. PMID: 34654706 Free PMC article.

9

Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.

Szabó TM, Balogh I, Ujfalusi A, Szűcs Z, Madar L, Koczok K, Bessenyei B, Csürke I, Szakszon K. Szabó TM, et al. Among authors: szakszon k. Genes (Basel). 2022 Dec 15;13(12):2367. doi: 10.3390/genes13122367. Genes (Basel). 2022. PMID: 36553633 Free PMC article.

10

[Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)].

Szakszon K, Balogh E, Ujfalusi A, Bessenyei B, P Szabó G, Balogh I, Oláh E. Szakszon K, et al. Orv Hetil. 2014 Mar 2;155(9):348-57. doi: 10.1556/OH.2014.29690. Orv Hetil. 2014. PMID: 24566699 Hungarian.

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