Durovcikova D - Search Results

1

Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

Nemethova M, Bolcekova A, Ilencikova D, Durovcikova D, Hlinkova K, Hlavata A, Kovacs L, Kadasi L, Zatkova A. Nemethova M, et al. Among authors: durovcikova d. Ann Hum Genet. 2013 Sep;77(5):364-79. doi: 10.1111/ahg.12026. Epub 2013 Jun 12. Ann Hum Genet. 2013. PMID: 23758643

2

Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma.

Bolcekova A, Nemethova M, Zatkova A, Hlinkova K, Pozgayova S, Hlavata A, Kadasi L, Durovcikova D, Gerinec A, Husakova K, Pavlovicova Z, Holobrada M, Kovacs L, Ilencikova D. Bolcekova A, et al. Among authors: durovcikova d. Neoplasma. 2013;60(6):655-65. doi: 10.4149/neo_2013_084. Neoplasma. 2013. PMID: 23906300

3

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.

Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T. Radvanszky J, et al. Among authors: durovcikova d. Clin Genet. 2017 Feb;91(2):339-343. doi: 10.1111/cge.12840. Epub 2016 Sep 29. Clin Genet. 2017. PMID: 27452416

4

[Acute myeloblastic leukaemia with alternations of MLL proto-oncogene protein (11q23/MLL+ AML)].

Mikulásová Z, Ilencíková D, Slamka T, Durovcíková D. Mikulásová Z, et al. Among authors: durovcikova d. Klin Onkol. 2010;23(6):401-7. Klin Onkol. 2010. PMID: 21351416 Review. Slovak.

5

Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.

Kolejáková K, Petrovic R, Futas J, Turcáni P, Durovcíková D, Chandoga J. Kolejáková K, et al. Among authors: durovcikova d. Gen Physiol Biophys. 2009 Mar;28(1):8-15. Gen Physiol Biophys. 2009. PMID: 19390132

6

[Indirect diagnosis of type I neurofibromatosis using RFLP in Slovak families].

Mezenska R, Durovcikova D, Behulova R, Lukacova M, Lozsekova A, Simko J. Mezenska R, et al. Among authors: durovcikova d. Bratisl Lek Listy. 2000;101(3):130-3. Bratisl Lek Listy. 2000. PMID: 10870255 Slovak.

7

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.

Gatticchi L, Vešelényiová D, Miertus J, Enrico Maltese P, Manara E, Costantini A, Benedetti S, Ďurovčíková D, Krajcovic J, Bertelli M. Gatticchi L, et al. Among authors: durovcikova d. Mol Genet Genomic Med. 2021 Apr;9(4):e1630. doi: 10.1002/mgg3.1630. Epub 2021 Mar 16. Mol Genet Genomic Med. 2021. PMID: 33724725 Free PMC article.

8

Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias.

Miertuš J, Maltese PE, Hýblová M, Tomková E, Ďurovčíková D, Rísová V, Bertelli M. Miertuš J, et al. Among authors: durovcikova d. J Biotechnol. 2020 Mar 10;311:44-48. doi: 10.1016/j.jbiotec.2020.02.011. Epub 2020 Feb 25. J Biotechnol. 2020. PMID: 32109542

9

[The male 46,XY karyotype in a female phenotype].

Luptáková Z, Baxová A, Hnilicová S, Durovcíková D, Dibarborová K, Dósová M, Karczubová M, Matúsková M. Luptáková Z, et al. Among authors: durovcikova d. Bratisl Lek Listy. 1985 Jun;83(6):605-19. Bratisl Lek Listy. 1985. PMID: 4016550 Slovak. No abstract available.

10

A case of Klippel-Feil syndrome with congenital enlarged Eustachian tube.

Jovankovičová A, Jakubíková J, Durovčíková D. Jovankovičová A, et al. Among authors: durovcikova d. Int J Pediatr Otorhinolaryngol. 2012 Apr;76(4):596-600. doi: 10.1016/j.ijporl.2012.01.007. Epub 2012 Jan 31. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22301355

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