Farkas K - Search Results

1

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.

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

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

4

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

5

A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndrome.

Farkas K, Paschali E, Papp F, Vályi P, Széll M, Kemény L, Nagy N, Csoma Z. Farkas K, et al. Arch Dermatol Res. 2013 Jul;305(5):453-5. doi: 10.1007/s00403-013-1323-z. Epub 2013 Feb 10. Arch Dermatol Res. 2013. PMID: 23397598 Free article.

6

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.

7

Delineating the genetic heterogeneity of OCA in Hungarian patients.

Fábos B, Farkas K, Tóth L, Sulák A, Tripolszki K, Tihanyi M, Németh R, Vas K, Csoma Z, Kemény L, Széll M, Nagy N. Fábos B, et al. Among authors: farkas k. Eur J Med Res. 2017 Jun 19;22(1):20. doi: 10.1186/s40001-017-0262-0. Eur J Med Res. 2017. PMID: 28629449 Free PMC article.

8

Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome.

Pap ÉM, Farkas K, Széll M, Németh G, Rajan N, Nagy N. Pap ÉM, et al. Among authors: farkas k. Exp Dermatol. 2020 Oct;29(10):1017-1020. doi: 10.1111/exd.14161. Epub 2020 Sep 17. Exp Dermatol. 2020. PMID: 32744342

9

A newly identified missense mutation of the EDA1 gene in a Hungarian patient with Christ-Siemens-Touraine syndrome.

Kinyó A, Vályi P, Farkas K, Nagy N, Gergely B, Tripolszki K, Török D, Bata-Csörgő Z, Kemény L, Széll M. Kinyó A, et al. Among authors: farkas k. Arch Dermatol Res. 2014 Jan;306(1):97-100. doi: 10.1007/s00403-013-1408-8. Epub 2013 Aug 30. Arch Dermatol Res. 2014. PMID: 23989902

10

Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.

Gajda A, Horváth E, Hortobágyi T, Gergev G, Szabó H, Farkas K, Nagy N, Széll M, Sztriha L. Gajda A, et al. Among authors: farkas k. J Child Neurol. 2015 Apr;30(5):627-30. doi: 10.1177/0883073813494476. Epub 2013 Sep 20. J Child Neurol. 2015. PMID: 24056153

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