Tripolszki K - Search Results

1

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. 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.

2

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: tripolszki 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.

3

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: tripolszki 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.

4

One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.

Sulák A, Tóth L, Farkas K, Tripolszki K, Fábos B, Kemény L, Vályi P, Nagy K, Nagy N, Széll M. Sulák A, et al. Among authors: tripolszki k. Clin Exp Dermatol. 2016 Mar;41(2):190-5. doi: 10.1111/ced.12710. Epub 2015 Jul 24. Clin Exp Dermatol. 2016. PMID: 26205983

5

Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome.

Tripolszki K, Farkas K, Sulák A, Szolnoky G, Duga B, Melegh B, Knox RG, Parker VER, Semple RK, Kemény L, Széll M, Nagy N. Tripolszki K, et al. Clin Exp Dermatol. 2017 Oct;42(7):763-766. doi: 10.1111/ced.13154. Epub 2017 Jun 8. Clin Exp Dermatol. 2017. PMID: 28598037

6

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: tripolszki 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

7

CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.

Nagy N, Vályi P, Csoma Z, Sulák A, Tripolszki K, Farkas K, Paschali E, Papp F, Tóth L, Fábos B, Kemény L, Nagy K, Széll M. Nagy N, et al. Among authors: tripolszki k. Mol Genet Genomic Med. 2014 May;2(3):217-28. doi: 10.1002/mgg3.61. Epub 2014 Feb 11. Mol Genet Genomic Med. 2014. PMID: 24936511 Free PMC article. Review.

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: tripolszki 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

Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.

Tripolszki K, Csányi B, Nagy D, Ratti A, Tiloca C, Silani V, Kereszty É, Török N, Vécsei L, Engelhardt JI, Klivényi P, Nagy N, Széll M. Tripolszki K, et al. Neurobiol Aging. 2017 May;53:195.e1-195.e5. doi: 10.1016/j.neurobiolaging.2017.01.016. Epub 2017 Jan 29. Neurobiol Aging. 2017. PMID: 28222900 Free article.

10

High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.

Tripolszki K, Török D, Goudenège D, Farkas K, Sulák A, Török N, Engelhardt JI, Klivényi P, Procaccio V, Nagy N, Széll M. Tripolszki K, et al. Brain Behav. 2017 Mar 15;7(4):e00669. doi: 10.1002/brb3.669. eCollection 2017 Apr. Brain Behav. 2017. PMID: 28413711 Free PMC article.

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