Szakszon K - Search Results

1

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary.

Sümegi A, Hendrik Z, Gáll T, Felszeghy E, Szakszon K, Antal-Szalmás P, Beke L, Papp Á, Méhes G, Balla J, Balla G. Sümegi A, et al. Among authors: szakszon k. BMC Med Genet. 2020 Mar 27;21(1):61. doi: 10.1186/s12881-020-0985-6. BMC Med Genet. 2020. PMID: 32216767 Free PMC article.

2

Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome.

Szakszon K, Felszeghy E, Csízy I, Józsa T, Káposzta R, Balogh E, Oláh E, Balogh I, Berényi E, Knegt AC, Ilyés I. Szakszon K, et al. Eur J Med Genet. 2012 Feb;55(2):109-11. doi: 10.1016/j.ejmg.2011.11.002. Epub 2011 Nov 17. Eur J Med Genet. 2012. PMID: 22138217

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

Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.

Bessenyei B, Tihanyi M, Hartwig M, Szakszon K, Oláh É. Bessenyei B, et al. Among authors: szakszon k. Am J Med Genet A. 2014 Dec;164A(12):3176-9. doi: 10.1002/ajmg.a.36774. Epub 2014 Sep 23. Am J Med Genet A. 2014. PMID: 25251565

5

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

Szakszon K, Salpietro C, Kakar N, Knegt AC, Oláh É, Dallapiccola B, Borck G. Szakszon K, et al. Am J Med Genet A. 2013 Apr;161A(4):884-8. doi: 10.1002/ajmg.a.35848. Epub 2013 Feb 22. Am J Med Genet A. 2013. PMID: 23436491

6

[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.

7

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

8

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.

Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J, Szakszon K, Borck G. Yilmaz R, et al. Among authors: szakszon k. Am J Med Genet A. 2015 Dec;167A(12):3006-10. doi: 10.1002/ajmg.a.37343. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26334766

9

A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.

Kalmár T, Szakszon K, Maróti Z, Zimmermann A, Máté A, Zombor M, Bereczki C, Sztriha L. Kalmár T, et al. Among authors: szakszon k. J Pediatr Genet. 2021 Jun;10(2):159-163. doi: 10.1055/s-0040-1712916. Epub 2020 May 28. J Pediatr Genet. 2021. PMID: 33996189 Free PMC article.

10

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113

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