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Items: 1 to 50 of 110

1.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.

Cormican S, Connaughton DM, Kennedy C, Murray S, Živná M, Kmoch S, Fennelly NK, O'Kelly P, Benson KA, Conlon ET, Cavalleri G, Foley C, Doyle B, Dorman A, Little MA, Lavin P, Kidd K, Bleyer AJ, Conlon PJ.

Ren Fail. 2019 Nov;41(1):832-841. doi: 10.1080/0886022X.2019.1655452.

PMID:
31509055
2.

Autosomal dominant tubulointerstitial kidney disease.

Devuyst O, Olinger E, Weber S, Eckardt KU, Kmoch S, Rampoldi L, Bleyer AJ.

Nat Rev Dis Primers. 2019 Sep 5;5(1):60. doi: 10.1038/s41572-019-0109-9. Review.

PMID:
31488840
3.

Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.

Kleiblová P, Stolařová L, Křížová K, Lhota F, Hojný J, Zemánková P, Havránek O, Vočka M, Černá M, Lhotová K, Borecká M, Janatová M, Soukupová J, Ševčík J, Zimovjanová M, Kotlas J, Panczak A, Veselá K, Červenková J, Schneiderová M, Burócziová M, Burdová K, Stránecký V, Foretová L, Macháčková E, Tavandzis S, Kmoch S, Macůrek L, Kleibl Z.

Klin Onkol. 2019 Summer;32(Supplementum2):36-50. doi: 10.14735/amko2019S36.

PMID:
31409080
4.

Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.

Dvela-Levitt M, Kost-Alimova M, Emani M, Kohnert E, Thompson R, Sidhom EH, Rivadeneira A, Sahakian N, Roignot J, Papagregoriou G, Montesinos MS, Clark AR, McKinney D, Gutierrez J, Roth M, Ronco L, Elonga E, Carter TA, Gnirke A, Melanson M, Hartland K, Wieder N, Hsu JC, Deltas C, Hughey R, Bleyer AJ, Kmoch S, Živná M, Barešova V, Kota S, Schlondorff J, Heiman M, Alper SL, Wagner F, Weins A, Golub TR, Lander ES, Greka A.

Cell. 2019 Jul 25;178(3):521-535.e23. doi: 10.1016/j.cell.2019.07.002.

PMID:
31348885
5.

Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases.

Bleyer AJ, Kidd K, Robins V, Martin L, Taylor A, Santi A, Tsoumas G, Hunt A, Swain E, Abbas M, Akinbola E, Vidya S, Moossavi S, Bleyer AJ Jr, Živná M, Hartmannová H, Hodaňová K, Vyleťal P, Votruba M, Harden M, Blumenstiel B, Greka A, Kmoch S.

Genet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0617-8. [Epub ahead of print]

PMID:
31337885
6.

Rotor Syndrome.

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

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 Dec 13 [updated 2019 Jul 11].

7.

Diagnostic Utility of Exome Sequencing for Kidney Disease.

Bleyer AJ, Kmoch S, Greka A.

N Engl J Med. 2019 May 23;380(21):2080. doi: 10.1056/NEJMc1903250. No abstract available.

PMID:
31116938
8.

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.

Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.

Int J Cancer. 2019 Oct 1;145(7):1782-1797. doi: 10.1002/ijc.32385. Epub 2019 May 20.

PMID:
31050813
9.

Modern methods in diagnostics and research of molecular bases of rare diseases.

Kmoch S, Zeman J.

Cas Lek Cesk. Summer 2018;157(3):133-136. Review.

PMID:
30441942
10.

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.

Zikánová M, Wahezi D, Hay A, Stiburková B, Pitts C 3rd, Mušálková D, Škopová V, Barešová V, Soucková O, Hodanová K, Živná M, Stránecký V, Hartmannová H, Hnízda A, Bleyer AJ, Kmoch S.

Rheumatology (Oxford). 2018 Jul 1;57(7):1180-1185. doi: 10.1093/rheumatology/key041.

11.

Rare copy number variation in extremely impulsively violent males.

Vevera J, Zarrei M, Hartmannová H, Jedličková I, Mušálková D, Přistoupilová A, Oliveriusová P, Trešlová H, Nosková L, Hodaňová K, Stránecký V, Jiřička V, Preiss M, Příhodová K, Šaligová J, Wei J, Woodbury-Smith M, Bleyer AJ, Scherer SW, Kmoch S.

Genes Brain Behav. 2019 Jul;18(6):e12536. doi: 10.1111/gbb.12536. Epub 2018 Dec 3.

PMID:
30411505
12.

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hodaňová K, Živná M, Kmoch S, Ennis S, Venkat-Raman G.

BMC Nephrol. 2018 Oct 30;19(1):301. doi: 10.1186/s12882-018-1107-y.

13.

Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.

Chaloupka A, Piherova L, Grochova I, Binova J, Krejci J, Spinarova L, Stranecky V, Kmoch S, Kubanek M.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2018 Sep 24. doi: 10.5507/bp.2018.054. [Epub ahead of print]

PMID:
30275597
14.

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

Majer F, Piherova L, Reboun M, Stara V, Pelak O, Norambuena P, Stranecky V, Krebsova A, Vlaskova H, Dvorakova L, Kmoch S, Kalina T, Kubanek M, Sikora J.

Am J Med Genet A. 2018 Nov;176(11):2430-2434. doi: 10.1002/ajmg.a.40430. Epub 2018 Sep 8.

PMID:
30194816
15.

Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report
.

Cochran B, Kovačíková T, Hodaňová K, Živná M, Hnízda A, Niehaus AG, Bonnecaze A, Balasubraminiam G, Ceballos-Picot I, Hawfield A, Kidd K, Kmoch S, Bleyer AJ.

Clin Nephrol. 2018 Oct;90(4):296-301. doi: 10.5414/CN109460. Review.

PMID:
30106368
16.

Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies.

Baresova V, Skopova V, Souckova O, Krijt M, Kmoch S, Zikanova M.

PLoS One. 2018 Jul 30;13(7):e0201432. doi: 10.1371/journal.pone.0201432. eCollection 2018.

17.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S.

J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2.

18.

Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA.

Nat Neurosci. 2018 Aug;21(8):1139. doi: 10.1038/s41593-018-0170-9.

PMID:
29875394
19.

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J, Zemankova P, Lhotova K, Janatova M, Borecka M, Stolarova L, Lhota F, Foretova L, Machackova E, Stranecky V, Tavandzis S, Kleiblova P, Vocka M, Hartmannova H, Hodanova K, Kmoch S, Kleibl Z.

PLoS One. 2018 Apr 12;13(4):e0195761. doi: 10.1371/journal.pone.0195761. eCollection 2018.

20.

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.

Lopes LB, Abreu CC, Souza CF, Guimaraes LER, Silva AA, Aguiar-Alves F, Kidd KO, Kmoch S, Bleyer AJ, Almeida JR.

Braz J Med Biol Res. 2018 Mar 1;51(3):e6560. doi: 10.1590/1414-431X20176560.

21.

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ.

Am J Hum Genet. 2018 Mar 1;102(3):447-459. doi: 10.1016/j.ajhg.2018.02.002.

22.

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.

van den Ameele J, Jedlickova I, Pristoupilova A, Sieben A, Van Mossevelde S, Ceuterick-de Groote C, Hůlková H, Matej R, Meurs A, Van Broeckhoven C, Berkovic SF, Santens P, Kmoch S, Dermaut B.

Neurology. 2018 Feb 20;90(8):e658-e663. doi: 10.1212/WNL.0000000000004999. Epub 2018 Jan 19.

PMID:
29352102
23.

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA.

Nat Neurosci. 2018 Feb;21(2):207-217. doi: 10.1038/s41593-017-0053-5. Epub 2018 Jan 8. Erratum in: Nat Neurosci. 2018 Aug;21(8):1139.

24.

Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease.

Kim Y, Park SJ, Manson SR, Molina CA, Kidd K, Thiessen-Philbrook H, Perry RJ, Liapis H, Kmoch S, Parikh CR, Bleyer AJ, Chen YM.

JCI Insight. 2017 Dec 7;2(23). pii: 92896. doi: 10.1172/jci.insight.92896.

25.

Autosomal Dominant Tubulointerstitial Kidney Disease.

Bleyer AJ, Kidd K, Živná M, Kmoch S.

Adv Chronic Kidney Dis. 2017 Mar;24(2):86-93. doi: 10.1053/j.ackd.2016.11.012. Review.

26.

CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation.

Baresova V, Krijt M, Skopova V, Souckova O, Kmoch S, Zikanova M.

Mol Genet Metab. 2016 Nov;119(3):270-277. doi: 10.1016/j.ymgme.2016.08.004. Epub 2016 Aug 24.

PMID:
27590927
27.

Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci.

Stránecký V, Neřoldová M, Hodaňová K, Hartmannová H, Piherová L, Zemánková P, Přistoupilová A, Vrablík M, Adámková V, Kmoch S, Jirsa M.

Physiol Res. 2016 Dec 13;65(6):1005-1011. Epub 2016 Aug 19.

28.

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodaňová K, Stránecký V, Přistoupilová A, Barešová V, Jedličková I, Živná M, Sovová J, Hůlková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštěk J, Mráček T, Thibeault Y, Bleyer AJ, Kmoch S.

Hum Mol Genet. 2016 Sep 15;25(18):4062-4079. doi: 10.1093/hmg/ddw245. Epub 2016 Jul 27.

PMID:
27466185
29.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houštěk J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Østergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R.

J Med Genet. 2016 Nov;53(11):768-775. doi: 10.1136/jmedgenet-2016-103910. Epub 2016 Jul 13.

30.

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, Přistoupilová A, Mole SE; ANCL Gene Discovery Consortium.

Neurology. 2016 Aug 9;87(6):579-84. doi: 10.1212/WNL.0000000000002943. Epub 2016 Jul 13.

31.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, Hodaňová K, Vyleťal P, Hartmannová H, Stránecký V, Hůlková H, Barešová V, Jedličková I, Sovová J, Hnízda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL.

Am J Hum Genet. 2016 Jul 7;99(1):174-87. doi: 10.1016/j.ajhg.2016.05.028.

32.

Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related.

Bleyer AJ, Kmoch S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2013 Aug 15 [updated 2016 Jun 30].

33.

Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related.

Bleyer AJ, Hart PS, Kmoch S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Jan 12 [updated 2016 Jun 30].

34.

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.

Neřoldová M, Stránecký V, Hodaňová K, Hartmannová H, Piherová L, Přistoupilová A, Mrázová L, Vrablík M, Adámková V, Hubáček JA, Jirsa M, Kmoch S.

Pharmacogenomics. 2016 Aug;17(13):1405-14. doi: 10.2217/pgs-2016-0071. Epub 2016 Jun 14.

PMID:
27296017
35.

Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.

Blumenstiel B, DeFelice M, Birsoy O, Bleyer AJ, Kmoch S, Carter TA, Gnirke A, Kidd K, Rehm HL, Ronco L, Lander ES, Gabriel S, Lennon NJ.

J Mol Diagn. 2016 Jul;18(4):566-71. doi: 10.1016/j.jmoldx.2016.03.003. Epub 2016 May 5.

36.

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 Oct;90(4):324-33. doi: 10.1111/cge.12748. Epub 2016 Mar 4.

PMID:
26822949
37.

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.

38.

Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related.

Kmoch S, Živná M, Bleyer AJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2011 Apr 5 [updated 2015 Dec 29].

39.

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.

40.

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
41.

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 Disease: Improving Global Outcomes.

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

PMID:
25738250
42.

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.

43.

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
44.

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.

45.

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. Review.

46.

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.

47.

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
48.

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.

49.

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
50.

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

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