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Items: 15

1.

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.

Řeboun M, Rybová J, Dobrovolný R, Včelák J, Veselková T, Štorkánová G, Mušálková D, Hřebíček M, Ledvinová J, Magner M, Zeman J, Pešková K, Dvořáková L.

Folia Biol (Praha). 2016;62(2):82-9.

2.

Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.

Kuchar L, Faltyskova H, Krasny L, Dobrovolny R, Hulkova H, Ledvinova J, Volny M, Strohalm M, Lemr K, Kryspinova L, Asfaw B, Rybová J, Desnick RJ, Havlicek V.

Anal Bioanal Chem. 2015 Mar;407(8):2283-91. doi: 10.1007/s00216-014-8402-7. Epub 2014 Dec 27.

PMID:
25542581
3.

Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion.

Feldt-Rasmussen U, Dobrovolny R, Nazarenko I, Ballegaard M, Hasholt L, Rasmussen AK, Christensen EI, Sorensen SS, Wibrand F, Desnick RJ.

Mol Genet Metab. 2011 Nov;104(3):314-8. doi: 10.1016/j.ymgme.2011.05.008. Epub 2011 May 14.

PMID:
21641253
4.

Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.

Dobrovolny R, Nazarenko I, Kim J, Doheny D, Desnick RJ.

Hum Mutat. 2011 Jun;32(6):688-95. doi: 10.1002/humu.21474. Epub 2011 Mar 29.

PMID:
21305660
5.

More on clinical renal genetics.

Grünfeld JP, Hwu W, Chien Y, Lee N, Chiang S, Dobrovolny R, Huang A, Yeh H, Chao M, Lin S, Kitagawa T, Desnick R, Hsu L, Van Keimpema L, Nevens F, Vanslembrouck R, Van Oijen G, Hoffmann A, Dekker H, De Man R, Drenth J, Alamovitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agrmael T, Marro B, Ronco P, Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns J, Hart P, Hart T, Adams J, Pawtowski A, Clemessy M, Gasc J, Gubler M, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer A, Kmoch S, Brown E, Schlöndorff J, Becker Dj, Tsukaguchi H, Uschinski A, Higgs H, Henderson J, Pollak M.

Clin J Am Soc Nephrol. 2010 Apr;5(4):563-7. doi: 10.2215/CJN.01720210. Epub 2010 Mar 25. No abstract available.

6.

Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.

Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M, Grace ME, Nazarenko I, Dobrovolny R, McDade E, Desnick RJ.

Stroke. 2010 Jan;41(1):78-81. doi: 10.1161/STROKEAHA.109.558320. Epub 2009 Dec 10.

7.

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW.

Hum Mutat. 2009 Oct;30(10):1397-405. doi: 10.1002/humu.21074.

8.

Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

Keslová-Veselíková J, Hůlková H, Dobrovolný R, Asfaw B, Poupetová H, Berná L, Sikora J, Golán L, Ledvinová J, Elleder M.

Virchows Arch. 2008 Jun;452(6):651-65. doi: 10.1007/s00428-008-0586-9. Epub 2008 Mar 20.

9.

Natural history of the respiratory involvement in Anderson-Fabry disease.

Magage S, Lubanda JC, Susa Z, Bultas J, Karetová D, Dobrovolný R, Hrebícek M, Germain DP, Linhart A.

J Inherit Metab Dis. 2007 Oct;30(5):790-9. Epub 2007 Jul 9.

PMID:
17619837
10.

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

Dobrovolny R, Liskova P, Ledvinova J, Poupetova H, Asfaw B, Filipec M, Jirsova K, Kraus J, Elleder M.

Am J Ophthalmol. 2007 Apr;143(4):663-71. Epub 2006 Dec 28.

PMID:
17239335
11.

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

Merta M, Reiterova J, Ledvinova J, Poupetová H, Dobrovolny R, Rysavá R, Maixnerová D, Bultas J, Motán J, Slivkova J, Sobotova D, Smrzova J, Tesar V.

Nephrol Dial Transplant. 2007 Jan;22(1):179-86. Epub 2006 Oct 13.

PMID:
17040996
12.

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.

Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, Elleder M, Karetova D, Pavlikova M, Hrebicek M.

J Mol Med (Berl). 2005 Aug;83(8):647-54. Epub 2005 Apr 2.

PMID:
15806320
13.

Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.

Dobrovolný R, Dvoráková L, Ledvinová J, Magage S, Bultas J, Lubanda JC, Poupetová H, Elleder M, Karetová D, Hrebícek M.

Am J Med Genet A. 2005 Apr 1;134A(1):84-7.

PMID:
15712198
14.

Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase.

Hujová J, Sikora J, Dobrovolný R, Poupetová H, Ledvinová J, Kostrouchová M, Hrebícek M.

BMC Cell Biol. 2005 Jan 27;6(1):5.

15.

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

Asfaw B, Ledvinová J, Dobrovolńy R, Bakker HD, Desnick RJ, van Diggelen OP, de Jong JG, Kanzaki T, Chabas A, Maire I, Conzelmann E, Schindler D.

J Lipid Res. 2002 Jul;43(7):1096-104.

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