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Items: 17

1.

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.

Pecimonova M, Kluckova D, Csicsay F, Reblova K, Krahulec J, Procházkova D, Skultety L, Kadasi L, Soltysova A.

Genes (Basel). 2019 Jun 15;10(6). pii: E459. doi: 10.3390/genes10060459.

2.

The disadvantages of being a hybrid during drought: A combined analysis of plant morphology, physiology and leaf proteome in maize.

Holá D, Benešová M, Fischer L, Haisel D, Hnilička F, Hniličková H, Jedelský PL, Kočová M, Procházková D, Rothová O, Tůmová L, Wilhelmová N.

PLoS One. 2017 Apr 18;12(4):e0176121. doi: 10.1371/journal.pone.0176121. eCollection 2017.

3.

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.

Prochazkova D, Hruba Z, Konecna P, Skotakova J, Fajkusova L.

J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):482-483. doi: 10.4274/jcrpe.3021. Epub 2016 May 23.

4.

Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?

Procházková D, Jarkovský J, Haňková Z, Konečná P, Benáková H, Vinohradská H, Mikušková A.

J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1327-32. doi: 10.1515/jpem-2014-0489.

PMID:
26226119
5.

Tomato (Solanum lycopersicum L.) SlIPT3 and SlIPT4 isopentenyltransferases mediate salt stress response in tomato.

Žižková E, Dobrev PI, Muhovski Y, Hošek P, Hoyerová K, Haisel D, Procházková D, Lutts S, Motyka V, Hichri I.

BMC Plant Biol. 2015 Mar 12;15:85. doi: 10.1186/s12870-015-0415-7.

6.

Nitrogen metabolism and gas exchange parameters associated with zinc stress in tobacco expressing an ipt gene for cytokinin synthesis.

Pavlíková D, Pavlík M, Procházková D, Zemanová V, Hnilička F, Wilhelmová N.

J Plant Physiol. 2014 Apr 15;171(7):559-64. doi: 10.1016/j.jplph.2013.11.016.

PMID:
24655392
7.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ.

Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24.

PMID:
24566669
8.

The long-term effect of zinc soil contamination on selected free amino acids playing an important role in plant adaptation to stress and senescence.

Pavlíková D, Zemanová V, Procházková D, Pavlík M, Száková J, Wilhelmová N.

Ecotoxicol Environ Saf. 2014 Feb;100:166-70. doi: 10.1016/j.ecoenv.2013.10.028. Epub 2013 Nov 13.

PMID:
24238718
9.

Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience.

Procházková D, Jarkovský J, Vinohradská H, Konečná P, Machačová L, Doležel Z.

Biol Trace Elem Res. 2013 Aug;154(2):178-84. doi: 10.1007/s12011-013-9724-6. Epub 2013 Jun 15.

PMID:
23771645
10.

Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.

Réblová K, Hrubá Z, Procházková D, Pazdírková R, Pouchlá S, Zeman J, Fajkusová L.

Clin Chim Acta. 2013 Apr 18;419:1-10. doi: 10.1016/j.cca.2013.01.006. Epub 2013 Jan 26. Erratum in: Clin Chim Acta. 2013 Nov 15;426:157. Zeman, Jiří [added].

PMID:
23357515
11.

The physiology and proteomics of drought tolerance in maize: early stomatal closure as a cause of lower tolerance to short-term dehydration?

Benešová M, Holá D, Fischer L, Jedelský PL, Hnilička F, Wilhelmová N, Rothová O, Kočová M, Procházková D, Honnerová J, Fridrichová L, Hniličková H.

PLoS One. 2012;7(6):e38017. doi: 10.1371/journal.pone.0038017. Epub 2012 Jun 13.

12.

Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.

Janečková H, Hron K, Wojtowicz P, Hlídková E, Barešová A, Friedecký D, Zídková L, Hornik P, Behúlová D, Procházková D, Vinohradská H, Pešková K, Bruheim P, Smolka V, Sťastná S, Adam T.

J Chromatogr A. 2012 Feb 24;1226:11-7. doi: 10.1016/j.chroma.2011.09.074. Epub 2011 Oct 4.

PMID:
22018716
13.

Nitric oxide, reactive nitrogen species and associated enzymes during plant senescence.

Procházková D, Wilhelmová N.

Nitric Oxide. 2011 Mar 15;24(2):61-5. doi: 10.1016/j.niox.2011.01.005. Epub 2011 Jan 20. Review.

PMID:
21256240
14.

[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].

Vondrácková A, Tesarová M, Magner M, Docekalová D, Chrastina P, Procházkova D, Zeman J, Honzík T.

Cas Lek Cesk. 2010;149(9):411-6. Czech.

PMID:
21117323
15.

Copper and zinc in the serum, urine, and hair of patients with Wilson's disease treated with penicillamine and zinc.

Dastych M, Procházková D, Pokorný A, Zdrazil L.

Biol Trace Elem Res. 2010 Mar;133(3):265-9. doi: 10.1007/s12011-009-8438-2. Epub 2009 Jun 27.

PMID:
19562272
16.

Antioxidant protection during ageing and senescence in chloroplasts of tobacco with modulated life span.

Procházková D, Haisel D, Wilhelmová N.

Cell Biochem Funct. 2008 Sep-Oct;26(5):582-90. doi: 10.1002/cbf.1481.

PMID:
18512255
17.

Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.

Kozak L, Hrabincova E, Kintr J, Horky O, Zapletalova P, Blahakova I, Mejstrik P, Prochazkova D.

Mol Genet Metab. 2006 Dec;89(4):300-9. Epub 2006 Aug 22.

PMID:
16931086

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