Fekete G - Search Results

1

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.

Eßinger C, Karch S, Moog U, Fekete G, Lengyel A, Pinti E, Eggermann T, Begemann M. Eßinger C, et al. Among authors: fekete g. Clin Epigenetics. 2020 May 11;12(1):63. doi: 10.1186/s13148-020-00856-y. Clin Epigenetics. 2020. PMID: 32393365 Free PMC article.

2

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.

Eggermann T, Brück J, Knopp C, Fekete G, Kratz C, Tasic V, Kurth I, Elbracht M, Eggermann K, Begemann M. Eggermann T, et al. Among authors: fekete g. J Mol Med (Berl). 2020 Oct;98(10):1447-1455. doi: 10.1007/s00109-020-01966-z. Epub 2020 Aug 24. J Mol Med (Berl). 2020. PMID: 32839827 Free PMC article.

3

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.

Meyer R, Begemann M, Hübner CT, Dey D, Kuechler A, Elgizouli M, Schara U, Ambrozaityte L, Burnyte B, Schröder C, Kenawy A, Kroisel P, Demuth S, Fekete G, Opladen T, Elbracht M, Eggermann T. Meyer R, et al. Among authors: fekete g. Orphanet J Rare Dis. 2021 Jan 22;16(1):42. doi: 10.1186/s13023-021-01683-x. Orphanet J Rare Dis. 2021. PMID: 33482836 Free PMC article.

4

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes.

Baba N, Lengyel A, Pinti E, Yapici E, Schreyer I, Liehr T, Fekete G, Eggermann T. Baba N, et al. Among authors: fekete g. Mol Cytogenet. 2022 May 13;15(1):19. doi: 10.1186/s13039-022-00596-z. Mol Cytogenet. 2022. PMID: 35562807 Free PMC article.

5

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.

Sachwitz J, Strobl-Wildemann G, Fekete G, Ambrozaitytė L, Kučinskas V, Soellner L, Begemann M, Eggermann T. Sachwitz J, et al. Among authors: fekete g. BMC Med Genet. 2016 Mar 11;17:20. doi: 10.1186/s12881-016-0280-8. BMC Med Genet. 2016. PMID: 26969265 Free PMC article.

6

What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature.

Pinti E, Lengyel A, Fekete G, Haltrich I. Pinti E, et al. Among authors: fekete g. BMC Pediatr. 2020 Jan 13;20(1):17. doi: 10.1186/s12887-019-1905-9. BMC Pediatr. 2020. PMID: 31931754 Free PMC article. Review.

7

Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome.

Lengyel A, Pinti É, Eggermann T, Fekete G, Haltrich I. Lengyel A, et al. Among authors: fekete g. Mol Syndromol. 2021 Aug;12(5):300-304. doi: 10.1159/000515941. Epub 2021 Jul 15. Mol Syndromol. 2021. PMID: 34602957 Free PMC article.

8

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

Meyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T. Meyer R, et al. Among authors: fekete g. J Pediatr. 2017 Aug;187:206-212.e1. doi: 10.1016/j.jpeds.2017.04.018. Epub 2017 May 19. J Pediatr. 2017. PMID: 28529015

9

Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family.

Pinti E, Piko H, Lengyel A, Luczay A, Karcagi V, Fekete G, Haltrich I. Pinti E, et al. Among authors: fekete g. Horm Res Paediatr. 2019;92(5):335-339. doi: 10.1159/000503299. Epub 2019 Oct 29. Horm Res Paediatr. 2019. PMID: 31661700

10

Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.

Lengyel A, Pinti É, Pikó H, Jávorszky E, David D, Tihanyi M, Gönczi É, Kiss E, Tóth Z, Tory K, Fekete G, Haltrich I. Lengyel A, et al. Among authors: fekete g. Eur J Med Genet. 2020 Oct;63(10):104027. doi: 10.1016/j.ejmg.2020.104027. Epub 2020 Aug 3. Eur J Med Genet. 2020. PMID: 32758661 Free article. Review.

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