Szakszon K - Search Results

1

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB. Lessel D, et al. Among authors: szakszon k. Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19. Hum Genet. 2018. PMID: 30450527 Free PMC article.

2

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C. Lessel D, et al. Among authors: szakszon k. Hum Mutat. 2015 Nov;36(11):1070-9. doi: 10.1002/humu.22833. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26172944 Free PMC article.

3

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

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

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.

6

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

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

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

Yilmaz R, Szakszon K, Altmann A, Altunoglu U, Senturk L, McGuire M, Calabrese O, Madan-Khetarpal S, Basel-Vanagaite L, Borck G. Yilmaz R, et al. Among authors: szakszon k. Am J Med Genet A. 2018 Jan;176(1):187-193. doi: 10.1002/ajmg.a.38538. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29160006

9

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.

10

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

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