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Results: 5

1.

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; Care4Rare Canada.

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

PMID:
25574898
[PubMed - in process]
2.

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]
Free Article
3.

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
4.

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.

Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houstĕk J, Kmoch S.

BMC Genomics. 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38.

PMID:
18221507
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Oligonucleotide-based microarray: a new improvement in microarray detection of plant viruses.

Bystricka D, Lenz O, Mraz I, Piherova L, Kmoch S, Sip M.

J Virol Methods. 2005 Sep;128(1-2):176-82.

PMID:
15927276
[PubMed - indexed for MEDLINE]

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