Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 70

1.

Autosomal dominant tubulointerstitial kidney disease: of names and genes.

Bleyer AJ, Kmoch S.

Kidney Int. 2014 Sep;86(3):459-61. doi: 10.1038/ki.2014.125.

PMID:
25168494
[PubMed - in process]
2.

Adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A.

J Inherit Metab Dis. 2014 Aug 12. [Epub ahead of print]

PMID:
25112391
[PubMed - as supplied by publisher]
3.

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.

Park EJ, Grabińska KA, Guan Z, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Sovová J, Jozsef L, Ondrušková N, Hansíková H, Honzík T, Zeman J, Hůlková H, Wen R, Kmoch S, Sessa WC.

Cell Metab. 2014 Sep 2;20(3):448-57. doi: 10.1016/j.cmet.2014.06.016. Epub 2014 Jul 24.

PMID:
25066056
[PubMed - in process]
4.

Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.

Neřoldová M, Fraňková S, Stránecký V, Honsová E, Lukšan O, Beneš M, Michalová K, Kmoch S, Jirsa M.

Clin Genet. 2014 Feb 12. doi: 10.1111/cge.12346. [Epub ahead of print] No abstract available.

PMID:
24635876
[PubMed - as supplied by publisher]
5.

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS.

Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. doi: 10.2215/CJN.06380613. Epub 2014 Feb 7.

PMID:
24509297
[PubMed - indexed for MEDLINE]
6.

The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.

Krijt J, Skopova V, Adamkova V, Cermakova R, Jurecka A, Kmoch S, Zikanova M.

Clin Biochem. 2013 Dec;46(18):1899-901. doi: 10.1016/j.clinbiochem.2013.10.018. Epub 2013 Oct 30.

PMID:
24183879
[PubMed - indexed for MEDLINE]
7.

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. Epub 2013 Oct 10.

PMID:
24114807
[PubMed - indexed for MEDLINE]
8.

Medullary Cystic Kidney Disease Type 1.

Bleyer AJ, Kmoch S.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2013 Aug 15.

PMID:
23946964
[PubMed]
Books & Documents
9.

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. Epub 2013 Apr 18.

PMID:
23602711
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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. Epub 2013 Feb 13.

PMID:
23415546
[PubMed - indexed for MEDLINE]
11.

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ.

Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10.

PMID:
23396133
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders.

Duval N, Luhrs K, Wilkinson TG 2nd, Baresova V, Skopova V, Kmoch S, Vacano GN, Zikanova M, Patterson D.

Mol Genet Metab. 2013 Mar;108(3):178-89. doi: 10.1016/j.ymgme.2013.01.002. Epub 2013 Jan 12.

PMID:
23394948
[PubMed - indexed for MEDLINE]
13.

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.

Kmoch S, Stránecký V, Emes RD, Mitchison HM.

Biochim Biophys Acta. 2013 Nov;1832(11):1831-41. doi: 10.1016/j.bbadis.2012.12.010. Epub 2012 Dec 26. Review.

PMID:
23274885
[PubMed - indexed for MEDLINE]
Free Article
14.

Rotor Syndrome.

Jirsa M, Knisely AS, Schinkel A, Kmoch S.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2012 Dec 13.

PMID:
23236639
[PubMed]
Books & Documents
15.

Gout: a step forward.

Bleyer AJ, Kmoch S.

Adv Chronic Kidney Dis. 2012 Nov;19(6):356-7. doi: 10.1053/j.ackd.2012.07.013. No abstract available.

PMID:
23089269
[PubMed - indexed for MEDLINE]
16.

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.

Kovářová N, Cížková Vrbacká A, Pecina P, Stránecký V, Pronicka E, Kmoch S, Houštěk J.

Biochim Biophys Acta. 2012 Jul;1822(7):1114-24. doi: 10.1016/j.bbadis.2012.03.007. Epub 2012 Mar 20.

PMID:
22465034
[PubMed - indexed for MEDLINE]
Free Article
17.

Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.

Havlíčková Karbanová V, Cížková Vrbacká A, Hejzlarová K, Nůsková H, Stránecký V, Potocká A, Kmoch S, Houštěk J.

Biochim Biophys Acta. 2012 Jul;1817(7):1037-43. doi: 10.1016/j.bbabio.2012.03.004. Epub 2012 Mar 10.

PMID:
22433607
[PubMed - indexed for MEDLINE]
Free Article
18.

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 1;122(2):519-28. doi: 10.1172/JCI59526. Epub 2012 Jan 9.

PMID:
22232210
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.

Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S.

Hum Mol Genet. 2012 Apr 1;21(7):1534-43. doi: 10.1093/hmg/ddr591. Epub 2011 Dec 16.

PMID:
22180458
[PubMed - indexed for MEDLINE]
Free Article
20.

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. Epub 2011 Aug 4. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589.

PMID:
21820099
[PubMed - indexed for MEDLINE]
Free PMC Article
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk