Zatkova A - Search Results

1

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Zatkova A, Sedlackova T, Radvansky J, Polakova H, Nemethova M, Aquaron R, Dursun I, Usher JL, Kadasi L. Zatkova A, et al. JIMD Rep. 2012;4:55-65. doi: 10.1007/8904_2011_68. Epub 2011 Oct 20. JIMD Rep. 2012. PMID: 23430897 Free PMC article.

2

[The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia].

Kádasi L, Poláková H, Zatková A, Kayserová H, Hruskovic I. Kádasi L, et al. Among authors: zatkova a. Bratisl Lek Listy. 1998 Jan;99(1):33-6. Bratisl Lek Listy. 1998. PMID: 9588077 Slovak.

3

Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.

Kádasi L, Poláková H, Zatková A, Kayserová H. Kádasi L, et al. Among authors: zatkova a. Gene Geogr. 1997 Apr;11(1):51-6. Gene Geogr. 1997. PMID: 9615214

4

Analysis of the SMN and NAIP genes in slovak spinal muscular atrophy patients.

Zat'ková A, Hahnen E, Wirth B, Kádasi L. Zat'ková A, et al. Hum Hered. 2000 May-Jun;50(3):171-4. doi: 10.1159/000022909. Hum Hered. 2000. PMID: 10686495

5

Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria.

Zatková A, Polaková H, Micutková L, Zvarík M, Bosák V, Feráková E, Matusek J, Ferák V, Kádasi L. Zatková A, et al. J Med Genet. 2000 Jul;37(7):539-42. doi: 10.1136/jmg.37.7.539. J Med Genet. 2000. PMID: 10970188 Free PMC article. No abstract available.

6

High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.

Zatková A, de Bernabé DB, Poláková H, Zvarík M, Feráková E, Bosák V, Ferák V, Kádasi L, de Córdoba SR. Zatková A, et al. Am J Hum Genet. 2000 Nov;67(5):1333-9. doi: 10.1016/S0002-9297(07)62964-4. Epub 2000 Oct 2. Am J Hum Genet. 2000. PMID: 11017803 Free PMC article.

7

Rapid detection methods for five HGO gene mutations causing alkaptonuria.

Zatkova A, Chmelikova A, Polakova H, Ferakova E, Kadasi L. Zatkova A, et al. Clin Genet. 2003 Feb;63(2):145-9. doi: 10.1034/j.1399-0004.2003.00027.x. Clin Genet. 2003. PMID: 12630963

8

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: zatkova a. Ann Hum Genet. 2013 Sep;77(5):364-79. doi: 10.1111/ahg.12026. Epub 2013 Jun 12. Ann Hum Genet. 2013. PMID: 23758643

9

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: zatkova a. Neoplasma. 2013;60(6):655-65. doi: 10.4149/neo_2013_084. Neoplasma. 2013. PMID: 23906300

10

Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence.

Sakthivel S, Zatkova A, Nemethova M, Surovy M, Kadasi L, Saravanan MP. Sakthivel S, et al. Among authors: zatkova a. Ann Hum Genet. 2014 May;78(3):155-64. doi: 10.1111/ahg.12055. Epub 2014 Feb 12. Ann Hum Genet. 2014. PMID: 24575791

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