Farkas K - Search Results

1

The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.

Farkas K, Deák BK, Sánchez LC, Martínez AM, Corell JJ, Botella AM, Benito GM, López RR, Vanecek T, Kazakov DV, Kromosoeto JN, van den Ouweland AM, Varga J, Széll M, Nagy N. Farkas K, et al. BMC Genet. 2016 Feb 9;17:36. doi: 10.1186/s12863-016-0346-9. BMC Genet. 2016. PMID: 26861065 Free PMC article.

2

Phenotype-genotype correlations for clinical variants caused by CYLD mutations.

Nagy N, Farkas K, Kemény L, Széll M. Nagy N, et al. Among authors: farkas k. Eur J Med Genet. 2015 May;58(5):271-8. doi: 10.1016/j.ejmg.2015.02.010. Epub 2015 Mar 14. Eur J Med Genet. 2015. PMID: 25782638 Review.

3

Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.

Tóth L, Fábos B, Farkas K, Sulák A, Tripolszki K, Széll M, Nagy N. Tóth L, et al. Among authors: farkas k. BMC Med Genet. 2017 Mar 15;18(1):27. doi: 10.1186/s12881-017-0386-7. BMC Med Genet. 2017. PMID: 28298193 Free PMC article.

4

A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities.

Farkas K, Nagy N, Kinyó A, Kemény L, Széll M. Farkas K, et al. Arch Dermatol Res. 2012 Oct;304(8):679-81. doi: 10.1007/s00403-012-1244-2. Epub 2012 May 15. Arch Dermatol Res. 2012. PMID: 22584530

5

A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome.

Nagy N, Farkas K, Kinyo A, Nemeth IB, Kis E, Varga J, Bata-Csorgo Z, Kemeny L, Szell M. Nagy N, et al. Among authors: farkas k. Exp Dermatol. 2012 Dec;21(12):967-9. doi: 10.1111/exd.12040. Exp Dermatol. 2012. PMID: 23171463

6

A mutational hotspot in CYLD causing cylindromas: a comparison of phenotypes arising in different genetic backgrounds.

Nagy N, Rajan N, Farkas K, Kinyó A, Kemény L, Széll M. Nagy N, et al. Among authors: farkas k. Acta Derm Venereol. 2013 Nov;93(6):743-5. doi: 10.2340/00015555-1590. Acta Derm Venereol. 2013. PMID: 23584127 Free PMC article. No abstract available.

7

Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.

Horváth E, Farkas K, Herczegfalvi A, Nagy N, Széll M. Horváth E, et al. Among authors: farkas k. J Med Case Rep. 2014 Jun 26;8:233. doi: 10.1186/1752-1947-8-233. J Med Case Rep. 2014. PMID: 24969041 Free PMC article.

8

Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.

Nemes E, Farkas K, Kocsis-Deák B, Drubi A, Sulák A, Tripolszki K, Dósa P, Ferenc L, Nagy N, Széll M. Nemes E, et al. Among authors: farkas k. Arch Dermatol Res. 2015 Dec;307(10):891-5. doi: 10.1007/s00403-015-1597-4. Epub 2015 Sep 16. Arch Dermatol Res. 2015. PMID: 26377839

9

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.

Tripolszki K, Knox R, Parker V, Semple R, Farkas K, Sulák A, Horváth E, Széll M, Nagy N. Tripolszki K, et al. Among authors: farkas k. Eur J Med Genet. 2016 Apr;59(4):223-6. doi: 10.1016/j.ejmg.2016.02.002. Epub 2016 Feb 3. Eur J Med Genet. 2016. PMID: 26851524 Free article.

10

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report.

Dávid É, Török D, Farkas K, Nagy N, Horváth E, Kiss Z, Oroszlán G, Balogh M, Széll M. Dávid É, et al. Among authors: farkas k. BMC Pediatr. 2019 Jan 11;19(1):16. doi: 10.1186/s12887-019-1390-1. BMC Pediatr. 2019. PMID: 30635044 Free PMC article.

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