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Results: 1 to 20 of 58

1.

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.

Ondruskova N, Honzik T, Vondrackova A, Tesarova M, Zeman J, Hansikova H.

Neuro Endocrinol Lett. 2014;35(2):137-41.

PMID:
24878975
[PubMed - in process]
2.

Ultrastructure and molecular phylogeny of four new species of monoxenous trypanosomatids from flies (Diptera: Brachycera) with redefinition of the genus Wallaceina.

Yurchenko V, Votýpka J, Tesarová M, Klepetková H, Kraeva N, Jirků M, Lukes J.

Folia Parasitol (Praha). 2014 Apr;61(2):97-112.

PMID:
24822316
[PubMed - indexed for MEDLINE]
3.

Mitochondrial membrane assembly of TMEM70 protein.

Kratochvílová H, Hejzlarová K, Vrbacký M, Mráček T, Karbanová V, Tesařová M, Gombitová A, Cmarko D, Wittig I, Zeman J, Houštěk J.

Mitochondrion. 2014 Mar;15:1-9. doi: 10.1016/j.mito.2014.02.010. Epub 2014 Feb 25.

PMID:
24576557
[PubMed - in process]
4.

Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.

Sedivá A, Horváth R, Maňásek V, Gregorová A, Plevová P, Horáčková M, Tesařová M, Toplak N, Debeljak M.

Clin Genet. 2013 Nov 19. doi: 10.1111/cge.12323. [Epub ahead of print]

PMID:
24251727
[PubMed - as supplied by publisher]
5.

Novel mutations in the TAZ gene in patients with Barth syndrome.

Mazurová S, Tesařová M, Magner M, Houšťková H, Hansíková H, Augustínová J, Tomek V, Vondráčková A, Zeman J, Honzík T.

Prague Med Rep. 2013;114(3):139-53.

PMID:
24093814
[PubMed - indexed for MEDLINE]
Free Article
6.

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

Vondráčková A, Veselá K, Kratochvílová H, Kučerová Vidrová V, Vinšová K, Stránecký V, Honzík T, Hansíková H, Zeman J, Tesařová M.

Eur J Hum Genet. 2014 Mar;22(3):431-4. doi: 10.1038/ejhg.2013.148. Epub 2013 Jul 10.

PMID:
23838601
[PubMed - in process]
7.

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M.

Acta Ophthalmol. 2013 May;91(3):e225-31. doi: 10.1111/aos.12038. Epub 2013 Feb 7.

PMID:
23387428
[PubMed - indexed for MEDLINE]
8.

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male.

Palecek T, Tesarova M, Kuchynka P, Dytrych V, Elleder M, Hulkova H, Hansikova H, Honzik T, Zeman J, Linhart A.

Int Heart J. 2012;53(6):383-7.

PMID:
23258140
[PubMed - indexed for MEDLINE]
Free Article
9.

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.

Honzik T, Tesarova M, Vinsova K, Hansikova H, Magner M, Kratochvilova H, Zamecnik J, Zeman J, Jesina P.

Mol Genet Metab. 2013 Jan;108(1):102-5. doi: 10.1016/j.ymgme.2012.11.002. Epub 2012 Nov 13.

PMID:
23206802
[PubMed - indexed for MEDLINE]
10.

[Hereditary leiomyomatosis and renal cell cancer - HLRCC/multiple cutaneous and uterine leimomyomatosis - MCUL].

Plevová P, Hladíková A, Tesařová M.

Klin Onkol. 2012;25 Suppl:S55-8. Czech.

PMID:
22920208
[PubMed - indexed for MEDLINE]
11.

Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.

Kubinova K, Tesarova M, Hansikova H, Vesela K, Kuzel D, Mara M.

J Obstet Gynaecol Res. 2013 Jan;39(1):410-4. doi: 10.1111/j.1447-0756.2012.01939.x. Epub 2012 Jul 6.

PMID:
22764886
[PubMed - indexed for MEDLINE]
12.

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency.

Szentiványi K, Hansíková H, Krijt J, Vinšová K, Tesařová M, Rozsypalová E, Klement P, Zeman J, Honzík T.

Prague Med Rep. 2012;113(2):136-46.

PMID:
22691284
[PubMed - indexed for MEDLINE]
Free Article
13.

Ultrastructure of hydathode trichomes of hemiparasitic Rhinanthus alectorolophus and Odontites vernus: how important is their role in physiology and evolution of parasitism in Orobanchaceae?

Těšitel J, Tesařová M.

Plant Biol (Stuttg). 2013 Jan;15(1):119-25. doi: 10.1111/j.1438-8677.2012.00610.x. Epub 2012 Jun 8.

PMID:
22676139
[PubMed - indexed for MEDLINE]
14.

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.

Vondrackova A, Vesela K, Hansikova H, Docekalova DZ, Rozsypalova E, Zeman J, Tesarova M.

J Hum Genet. 2012 Jul;57(7):442-8. doi: 10.1038/jhg.2012.49. Epub 2012 May 17.

PMID:
22592081
[PubMed - indexed for MEDLINE]
15.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H.

J Med Genet. 2012 Apr;49(4):277-83. doi: 10.1136/jmedgenet-2012-100846.

PMID:
22499348
[PubMed - indexed for MEDLINE]
16.

Core/shell nanofibers with embedded liposomes as a drug delivery system.

Mickova A, Buzgo M, Benada O, Rampichova M, Fisar Z, Filova E, Tesarova M, Lukas D, Amler E.

Biomacromolecules. 2012 Apr 9;13(4):952-62. doi: 10.1021/bm2018118. Epub 2012 Mar 26.

PMID:
22401557
[PubMed - indexed for MEDLINE]
17.

[Corneal ulceration complicating surgical correction of ptosis in patient with Kearns-Sayre syndrome--a case report].

Cesneková T, Jurecka T, Skorkovská K, Tesarová M, Hanisková H, Wenchich L, Zámecník J, Zeman J.

Cesk Slov Oftalmol. 2011 Oct;67(4):133-5. Czech.

PMID:
22299522
[PubMed - indexed for MEDLINE]
18.

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J.

J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10.

PMID:
22231385
[PubMed - indexed for MEDLINE]
19.

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H.

J Med Genet. 2012 Feb;49(2):83-9. doi: 10.1136/jmedgenet-2011-100577. Epub 2011 Dec 26.

PMID:
22200994
[PubMed - indexed for MEDLINE]
20.

Morphology, ultrastructure and life cycle of Vitrella brassicaformis n. sp., n. gen., a novel chromerid from the Great Barrier Reef.

Oborník M, Modrý D, Lukeš M, Cernotíková-Stříbrná E, Cihlář J, Tesařová M, Kotabová E, Vancová M, Prášil O, Lukeš J.

Protist. 2012 Mar;163(2):306-23. doi: 10.1016/j.protis.2011.09.001. Epub 2011 Nov 3.

PMID:
22055836
[PubMed - indexed for MEDLINE]

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