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Items: 1 to 20 of 29

1.

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.

Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ.

Am J Hum Genet. 2016 Jan 7;98(1):75-89. doi: 10.1016/j.ajhg.2015.11.018.

2.

Effect of chicken antibodies on inflammation in human lung epithelial cell lines.

Kubickova B, Majerova B, Hadrabova J, Noskova L, Stiborova M, Hodek P.

Neuro Endocrinol Lett. 2014;35 Suppl 2:99-104.

PMID:
25638373
3.

Fluorescent cellular assay for screening agents inhibiting Pseudomonas aeruginosa adherence.

Nosková L, Kubíčková B, Vašková L, Bláhová B, Wimmerová M, Stiborová M, Hodek P.

Sensors (Basel). 2015 Jan 16;15(1):1945-53. doi: 10.3390/s150101945.

4.

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.

Hartmannova H, Kubanek M, Sramko M, Piherova L, Noskova L, Hodanova K, Stranecky V, Pristoupilova A, Sovova J, Marek T, Maluskova J, Ridzon P, Kautzner J, Hulkova H, Kmoch S.

Circ Cardiovasc Genet. 2013 Dec;6(6):543-51. doi: 10.1161/CIRCGENETICS.113.000245.

5.

Mutations in ANTXR1 cause GAPO syndrome.

Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S.

Am J Hum Genet. 2013 May 2;92(5):792-9. doi: 10.1016/j.ajhg.2013.03.023.

6.

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.

Ehling R, Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Benke T, Kovacs GG, Ströbel T, Niedermüller U, Wagner M, Nachbauer W, Janecke A, Budka H, Boesch S, Kmoch S.

J Neurol Sci. 2013 Mar 15;326(1-2):75-82. doi: 10.1016/j.jns.2013.01.017.

PMID:
23415546
7.

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.

van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH.

J Clin Invest. 2012 Feb;122(2):519-28. doi: 10.1172/JCI59526.

8.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S.

Am J Hum Genet. 2011 Aug 12;89(2):241-52. doi: 10.1016/j.ajhg.2011.07.003. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589.

9.

[Comparative evaluation of 238U and 226Ra absorption by herbaceous and woody species under conditions of technogenic pollution].

Noskova LM, Shuktomova II.

Radiats Biol Radioecol. 2010 Nov-Dec;50(6):642-8. Russian.

PMID:
21434390
10.

Expression and processing of the TMEM70 protein.

Hejzlarová K, Tesařová M, Vrbacká-Čížková A, Vrbacký M, Hartmannová H, Kaplanová V, Nosková L, Kratochvílová H, Buzková J, Havlíčková V, Zeman J, Kmoch S, Houštěk J.

Biochim Biophys Acta. 2011 Jan;1807(1):144-9. doi: 10.1016/j.bbabio.2010.10.005.

11.

Detection of viral infections by an oligonucleotide microarray.

Sip M, Bystricka D, Kmoch S, Noskova L, Hartmannova H, Dedic P.

J Virol Methods. 2010 Apr;165(1):64-70. doi: 10.1016/j.jviromet.2010.01.004.

PMID:
20100517
12.

[The erythrocyte and plasma glutathione system under peptic ulcer].

Kulinskiĭ VI, Shcherbatykh AV, Bol'sheshapov AA, Bakhtairova VI, Bulavintseva OA, Egorova IE, Suslova AI, Ias'ko MV, Kolbaseeva OV, Noskova LK.

Biomed Khim. 2008 Sep-Oct;54(5):607-13. Russian.

PMID:
19105403
13.

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S.

Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246.

PMID:
18953340
14.

Nanocomposite Ti/hydrocarbon plasma polymer films from reactive magnetron sputtering as growth support for osteoblast-like and endothelial cells.

Grinevich A, Bacakova L, Choukourov A, Boldyryeva H, Pihosh Y, Slavinska D, Noskova L, Skuciova M, Lisa V, Biederman H.

J Biomed Mater Res A. 2009 Mar 15;88(4):952-66. doi: 10.1002/jbm.a.31918.

PMID:
18384161
15.

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.

Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houstĕk J, Kmoch S.

BMC Genomics. 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38.

16.

The influence of pore size on colonization of poly(L-lactide-glycolide) scaffolds with human osteoblast-like MG 63 cells in vitro.

Pamula E, Bacakova L, Filova E, Buczynska J, Dobrzynski P, Noskova L, Grausova L.

J Mater Sci Mater Med. 2008 Jan;19(1):425-35.

PMID:
17607515
17.

Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump.

Hrebícek M, Jirásek T, Hartmannová H, Nosková L, Stránecký V, Ivánek R, Kmoch S, Cebecauerová D, Vítek L, Mikulecký M, Subhanová I, Hozák P, Jirsa M.

Liver Int. 2007 May;27(4):485-91.

PMID:
17403188
18.

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV.

Am J Hum Genet. 2006 Nov;79(5):807-19.

19.

[Conversion from Consupren sol. to Consupren S capsules in kidney transplant patients].

Matl I, Vítko S, Bubenícek P, Horcicková M, Lácha J, Lánská V, Marecková O, Nosková L, Petrásek R, Reneltová I, Táborský P.

Vnitr Lek. 1999 Mar;45(3):167-9. Czech.

PMID:
15641241
20.

Glucocorticoid agonistic and antagonistic effects of mifepristone and onapristone on thymocyte subset composition and CD26/dipeptidyl peptidase IV activity in infant male rats.

Kraml J, Kolínská J, Sinkora J, Zákostelecká M, Kadlecová L, Hirsová D, Nosková L.

J Steroid Biochem Mol Biol. 2003 Oct;87(1):85-96.

PMID:
14630094
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