Széll M - 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. Among authors: szell m. BMC Genet. 2016 Feb 9;17:36. doi: 10.1186/s12863-016-0346-9. BMC Genet. 2016. PMID: 26861065 Free PMC article.

2

The expression of keratinocyte growth factor receptor (FGFR2-IIIb) correlates with the high proliferative rate of HaCaT keratinocytes.

Nagy N, Bata-Csörgo Z, Kopasz N, Szeg C, Pivarcsi A, Koreck A, Dobozy A, Kemény L, Széll M. Nagy N, et al. Among authors: szell m. Exp Dermatol. 2006 Aug;15(8):596-605. doi: 10.1111/j.1600-0625.2006.00450.x. Exp Dermatol. 2006. PMID: 16842598

3

The altered expression of syndecan 4 in the uninvolved skin of venous leg ulcer patients may predispose to venous leg ulcer.

Nagy N, Németh IB, Szabad G, Szolnoky G, Belsõ N, Bata-Csörgõ Z, Dobozy A, Kemény L, Széll M. Nagy N, et al. Among authors: szell m. Wound Repair Regen. 2008 Jul-Aug;16(4):495-502. doi: 10.1111/j.1524-475X.2008.00394.x. Wound Repair Regen. 2008. PMID: 18638267

4

The anti-apoptotic protein G1P3 is overexpressed in psoriasis and regulated by the non-coding RNA, PRINS.

Szegedi K, Sonkoly E, Nagy N, Németh IB, Bata-Csörgo Z, Kemény L, Dobozy A, Széll M. Szegedi K, et al. Among authors: szell m. Exp Dermatol. 2010 Mar;19(3):269-78. doi: 10.1111/j.1600-0625.2010.01066.x. Exp Dermatol. 2010. PMID: 20377629

5

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. Among authors: szell m. 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

6

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: szell m. Exp Dermatol. 2012 Dec;21(12):967-9. doi: 10.1111/exd.12040. Exp Dermatol. 2012. PMID: 23171463

7

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. Among authors: szell m. 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.

8

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: szell m. 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.

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: szell m. 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

Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

Horváth E, Horváth Z, Isaszegi D, Gergev G, Nagy N, Szabó J, Sztriha L, Széll M, Endreffy E. Horváth E, et al. Among authors: szell m. Mol Cytogenet. 2013 Sep 8;6(1):35. doi: 10.1186/1755-8166-6-35. Mol Cytogenet. 2013. PMID: 24011290 Free PMC article.

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