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Items: 1 to 20 of 77

1.

Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

Lhota F, Zemankova P, Kleiblova P, Soukupova J, Vocka M, Stranecky V, Janatova M, Hartmannova H, Hodanova K, Kmoch S, Kleibl Z.

Clin Genet. 2016 Jan 29. doi: 10.1111/cge.12748. [Epub ahead of print]

PMID:
26822949
2.

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. Epub 2015 Dec 31.

3.

Tamm Horsfall Glycoprotein and Uromodulin: It Is All about the Tubules!

Bleyer AJ, Kmoch S.

Clin J Am Soc Nephrol. 2016 Jan 7;11(1):6-8. doi: 10.2215/CJN.12201115. Epub 2015 Dec 18. No abstract available.

PMID:
26683889
4.

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

Vlckova M, Simandlova M, Zimmermann P, Stranecky V, Hartmannova H, Hodanova K, Havlovicova M, Hancarova M, Kmoch S, Sedlacek Z.

Eur J Med Genet. 2015 Oct;58(10):550-5. doi: 10.1016/j.ejmg.2015.09.004. Epub 2015 Sep 11.

PMID:
26370006
5.

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O.

Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4.

PMID:
25738250
6.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini OG, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P; Care4Rare Canada, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK.

Nat Commun. 2015 Jan 9;6:5614. doi: 10.1038/ncomms6614.

7.

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.

Zikanova M, Krijt J, Skopova V, Krijt M, Baresova V, Kmoch S.

Clin Biochem. 2015 Jan;48(1-2):2-7. doi: 10.1016/j.clinbiochem.2014.10.004. Epub 2014 Oct 23.

PMID:
25445730
8.

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
9.

Adenylosuccinate lyase deficiency.

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

J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi: 10.1007/s10545-014-9755-y. Epub 2014 Aug 12.

10.

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.

11.

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. 2015;87(1):96-8. doi: 10.1111/cge.12346. Epub 2014 Feb 12. No abstract available.

PMID:
24635876
12.

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.

13.

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
14.

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.

15.

Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related (ADTKD-MUC1).

Bleyer AJ, Kmoch S.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2013 Aug 15.

16.

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.

17.

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
18.

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.

19.

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.

20.

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.

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