Drabova J - 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: drabova j. Hum Mutat. 2018 May;39(5):709-716. doi: 10.1002/humu.23408. Epub 2018 Feb 20. Hum Mutat. 2018. PMID: 29405539

2

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: drabova j. Cytogenet Genome Res. 2012;136(1):15-20. doi: 10.1159/000334709. Epub 2011 Dec 8. Cytogenet Genome Res. 2012. PMID: 22156400

3

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: drabova j. 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

4

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: drabova j. Gene. 2013 Mar 1;516(1):158-61. doi: 10.1016/j.gene.2012.12.027. Epub 2012 Dec 22. Gene. 2013. PMID: 23266801

5

Monozygotic twins with 17q21.31 microdeletion syndrome.

Vlckova M, Hancarova M, Drabova J, Slamova Z, Koudova M, Alanova R, Mannik K, Kurg A, Sedlacek Z. Vlckova M, et al. Among authors: drabova j. Twin Res Hum Genet. 2014 Oct;17(5):405-10. doi: 10.1017/thg.2014.29. Epub 2014 Jun 9. Twin Res Hum Genet. 2014. PMID: 24909117

6

Deletions of 9q21.3 including NTRK2 are associated with severe phenotype.

Hancarova M, Puchmajerova A, Drabova J, Karaskova E, Vlckova M, Sedlacek Z. Hancarova M, et al. Among authors: drabova j. Am J Med Genet A. 2015 Jan;167A(1):264-7. doi: 10.1002/ajmg.a.36797. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348648 No abstract available.

7

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.

Drabova J, Trkova M, Hancarova M, Novotna D, Hejtmankova M, Havlovicova M, Sedlacek Z. Drabova J, et al. Mol Cytogenet. 2014 Aug 19;7:51. doi: 10.1186/1755-8166-7-51. eCollection 2014. Mol Cytogenet. 2014. PMID: 25411581 Free PMC article.

8

Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.

Drabova J, Seemanova E, Hancarova M, Pourova R, Horacek M, Jancuskova T, Pekova S, Novotna D, Sedlacek Z. Drabova J, et al. Am J Med Genet A. 2015 Apr;167A(4):837-41. doi: 10.1002/ajmg.a.36957. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25735987

9

Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.

Hancarova M, Malikova M, Kotrova M, Drabova J, Trkova M, Sedlacek Z. Hancarova M, et al. Among authors: drabova j. Am J Med Genet A. 2018 Jun;176(6):1438-1442. doi: 10.1002/ajmg.a.38711. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696806

10

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.

Hancarova M, Simandlova M, Drabova J, Mannik K, Kurg A, Sedlacek Z. Hancarova M, et al. Among authors: drabova j. Am J Med Genet A. 2013 Apr;161A(4):865-70. doi: 10.1002/ajmg.a.35783. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495096

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