Havlovicová M - Search Results

1

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM. Haijes HA, et al. Among authors: havlovicova m. Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353023 Free PMC article.

2

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

3

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. 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

4

Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism.

Vazna A, Havlovicova M, Sedlacek Z. Vazna A, et al. Among authors: havlovicova m. Gene. 2008 Jan 15;407(1-2):186-92. doi: 10.1016/j.gene.2007.10.009. Epub 2007 Oct 13. Gene. 2008. PMID: 17996402

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: havlovicova m. 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: havlovicova m. 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

Chromosome 12q13.13 deletions involving the HOXC gene cluster: phenotype and candidate genes.

Hancarova M, Simandlova M, Drabova J, Petrak B, Koudova M, Havlovicova M, Sedlacek Z. Hancarova M, et al. Among authors: havlovicova m. Eur J Med Genet. 2013 Mar;56(3):171-3. doi: 10.1016/j.ejmg.2012.12.003. Epub 2012 Dec 27. Eur J Med Genet. 2013. PMID: 23274590 No abstract available.

8

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: havlovicova m. Mol Cytogenet. 2014 Aug 19;7:51. doi: 10.1186/1755-8166-7-51. eCollection 2014. Mol Cytogenet. 2014. PMID: 25411581 Free PMC article.

9

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Jolly LA, Nguyen LS, Domingo D, Sun Y, Barry S, Hancarova M, Plevova P, Vlckova M, Havlovicova M, Kalscheuer VM, Graziano C, Pippucci T, Bonora E, Sedlacek Z, Gecz J. Jolly LA, et al. Among authors: havlovicova m. Hum Mol Genet. 2015 Jun 15;24(12):3335-47. doi: 10.1093/hmg/ddv083. Epub 2015 Mar 3. Hum Mol Genet. 2015. PMID: 25740848

10

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. Vlckova M, et al. Among authors: havlovicova m. Eur J Med Genet. 2015 Oct;58(10):550-5. doi: 10.1016/j.ejmg.2015.09.004. Epub 2015 Sep 11. Eur J Med Genet. 2015. PMID: 26370006

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