Novotna D - Search Results

1

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. Among authors: novotna d. 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

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: novotna d. 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: novotna d. 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

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

5

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. Among authors: novotna d. Mol Cytogenet. 2014 Aug 19;7:51. doi: 10.1186/1755-8166-7-51. eCollection 2014. Mol Cytogenet. 2014. PMID: 25411581 Free PMC article.

6

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: novotna k, novotna d. 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

7

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.

Tesner P, Drabova J, Stolfa M, Kudr M, Kyncl M, Moslerova V, Novotna D, Kremlikova Pourova R, Kocarek E, Rasplickova T, Sedlacek Z, Vlckova M. Tesner P, et al. Among authors: novotna d. Mol Cytogenet. 2018 May 9;11:29. doi: 10.1186/s13039-018-0377-1. eCollection 2018. Mol Cytogenet. 2018. PMID: 29760779 Free PMC article.

8

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: novotna d. Neuro Endocrinol Lett. 2006 Oct;27(5):579-85. Neuro Endocrinol Lett. 2006. PMID: 17159828

9

Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.

Bartsch O, Vlcková Z, Erdogan F, Ullmann R, Novotná D, Spiegel M, Beyer V, Haaf T, Zechner U, Seemanová E. Bartsch O, et al. Among authors: novotna d. Cytogenet Genome Res. 2007;119(1-2):158-64. doi: 10.1159/000109634. Epub 2007 Dec 14. Cytogenet Genome Res. 2007. PMID: 18160797

10

[Genetic study of 20 patients with autism disorders].

Havlovicová M, Propper L, Novotná D, Musová Z, Hrdlicka M, Sedlácek Z. Havlovicová M, et al. Among authors: novotna d. Cas Lek Cesk. 2002 Jun 21;141(12):381-7. Cas Lek Cesk. 2002. PMID: 12238024 Czech.

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