Sedlacek Z - Search Results

1

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Slamova Z, Nazaryan-Petersen L, Mehrjouy MM, Drabova J, Hancarova M, Marikova T, Novotna D, Vlckova M, Vlckova Z, Bak M, Zemanova Z, Tommerup N, Sedlacek Z. Slamova Z, et al. Among authors: sedlacek z. Hum Mutat. 2018 May;39(5):709-716. doi: 10.1002/humu.23408. Epub 2018 Feb 20. Hum Mutat. 2018. PMID: 29405539

2

Oncogene amplification and expression in pediatric solid tumors.

Mares J, Polanská V, Görgens H, Sedlácek Z, Maríková T, Bocek P, Kodet R, Schackert J, Goetz P. Mares J, et al. Among authors: sedlacek z. Neoplasma. 1998;45(3):123-7. Neoplasma. 1998. PMID: 9717522

3

Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.

Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E, Sedlacek Z. Calounova G, et al. Among authors: sedlacek z. Neuro Endocrinol Lett. 2006 Oct;27(5):579-85. Neuro Endocrinol Lett. 2006. PMID: 17159828

4

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.

Havlovicova M, Novotna D, Kocarek E, Novotna K, Bendova S, Petrak B, Hrdlicka M, Sedlacek Z. Havlovicova M, et al. Among authors: sedlacek z. Am J Med Genet A. 2007 Jan 1;143A(1):76-81. doi: 10.1002/ajmg.a.31569. Am J Med Genet A. 2007. PMID: 17163520

5

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.

Musova Z, Mazanec R, Krepelova A, Ehler E, Vales J, Jaklova R, Prochazka T, Koukal P, Marikova T, Kraus J, Havlovicova M, Sedlacek Z. Musova Z, et al. Among authors: sedlacek z. Am J Med Genet A. 2009 Jul;149A(7):1365-74. doi: 10.1002/ajmg.a.32987. Am J Med Genet A. 2009. PMID: 19514047

6

FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.

Vazna A, Musova Z, Vlckova M, Novotna D, Dvorakova L, Hrdlicka M, Havlovicova M, Sedlacek Z. Vazna A, et al. Among authors: sedlacek z. Am J Med Genet A. 2010 May;152A(5):1273-7. doi: 10.1002/ajmg.a.33352. Am J Med Genet A. 2010. PMID: 20425835

7

Array comparative genome hybridization in patients with developmental delay: two example cases.

Hancarova M, Drabova J, Zmitkova Z, Vlckova M, Hedvicakova P, Novotna D, Vlckova Z, Vejvalkova S, Marikova T, Sedlacek Z. Hancarova M, et al. Among authors: sedlacek z. N Biotechnol. 2012 Feb 15;29(3):321-4. doi: 10.1016/j.nbt.2010.10.006. Epub 2010 Oct 20. N Biotechnol. 2012. PMID: 20969982

8

Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing.

Vlckova M, Trkova M, Zemanova Z, Hancarova M, Novotna D, Raskova D, Puchmajerova A, Drabova J, Zmitkova Z, Tan Y, Sedlacek Z. Vlckova M, et al. Among authors: sedlacek z. Cytogenet Genome Res. 2012;136(1):15-20. doi: 10.1159/000334709. Epub 2011 Dec 8. Cytogenet Genome Res. 2012. PMID: 22156400

9

Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.

Mejstríková E, Janda A, Hrusák O, Bucková H, Vlcková M, Hancárová M, Freiberger T, Ravcuková B, Vesely K, Fajkusová L, Kopecková L, Sumerauer D, Kabícková E, Sedivá A, Stary J, Sedlácek Z. Mejstríková E, et al. Among authors: sedlacek z. Pediatrics. 2012 Feb;129(2):e523-8. doi: 10.1542/peds.2011-0870. Epub 2012 Jan 23. Pediatrics. 2012. PMID: 22271700

10

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.

Hancarova M, Vejvalkova S, Trkova M, Drabova J, Dleskova A, Vlckova M, Sedlacek Z. Hancarova M, et al. Among authors: sedlacek z. Gene. 2013 Mar 1;516(1):158-61. doi: 10.1016/j.gene.2012.12.027. Epub 2012 Dec 22. Gene. 2013. PMID: 23266801

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