Publications by authors named "Marketa Vlckova"

33Publications

Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.

Eur J Paediatr Neurol 2020 Sep 4;28:81-88. Epub 2020 Aug 4.

Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.07.010DOI Listing
September 2020

The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis.

Metabolites 2020 May 6;10(5). Epub 2020 May 6.

Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84, 150 06 Prague, Czech Republic.

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http://dx.doi.org/10.3390/metabo10050184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7281253PMC
May 2020

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Am J Hum Genet 2019 11 3;105(5):987-995. Epub 2019 Oct 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848994PMC
November 2019

Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.

Cytogenet Genome Res 2018 9;154(4):187-195. Epub 2018 May 9.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1159/000488790DOI Listing
July 2018

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.

Orphanet J Rare Dis 2018 05 2;13(1):71. Epub 2018 May 2.

Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1186/s13023-018-0812-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932755PMC
May 2018

Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.

Neuropediatrics 2018 06 14;49(3):204-208. Epub 2018 Feb 14.

DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1055/s-0038-1626708DOI Listing
June 2018

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

Hum Mutat 2018 05 20;39(5):709-716. Epub 2018 Feb 20.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/humu.23408DOI Listing
May 2018

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.

Eur J Med Genet 2018 Jun 4;61(6):315-321. Epub 2018 Jan 4.

Department of Biology and Medical Genetics, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.005DOI Listing
June 2018

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

Genet Test Mol Biomarkers 2017 Oct 5;21(10):613-618. Epub 2017 Sep 5.

1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .

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http://dx.doi.org/10.1089/gtmb.2017.0110DOI Listing
October 2017

Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach.

Autism Res 2017 Aug 24;10(8):1424-1435. Epub 2017 Mar 24.

Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84, 150 06 Prague, Czech Republic.

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http://doi.wiley.com/10.1002/aur.1780
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http://dx.doi.org/10.1002/aur.1780DOI Listing
August 2017

Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.

Clin Exp Ophthalmol 2016 Dec 1;44(9):757-762. Epub 2016 Jul 1.

Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1111/ceo.12783DOI Listing
December 2016

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.

Eur J Med Genet 2015 Oct 11;58(10):550-5. Epub 2015 Sep 11.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.ejmg.2015.09.004DOI Listing
October 2015

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

Hum Mol Genet 2015 Jun 3;24(12):3335-47. Epub 2015 Mar 3.

School of Paediatrics and Reproductive Health, Robinson Research Institute and School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide 5000, Australia,

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http://dx.doi.org/10.1093/hmg/ddv083DOI Listing
June 2015

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

Am J Med Genet A 2015 Jan 27;167A(1):264-7. Epub 2014 Oct 27.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.36797DOI Listing
January 2015

Monozygotic twins with 17q21.31 microdeletion syndrome.

Twin Res Hum Genet 2014 Oct 9;17(5):405-10. Epub 2014 Jun 9.

Department of Biology and Medical Genetics,Charles University 2nd Faculty of Medicine and University Hospital Motol,Prague,Czech Republic.

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http://dx.doi.org/10.1017/thg.2014.29DOI Listing
October 2014

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.

Gene 2013 Mar 22;516(1):158-61. Epub 2012 Dec 22.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.gene.2012.12.027DOI Listing
March 2013

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

Pediatrics 2012 Feb 23;129(2):e523-8. Epub 2012 Jan 23.

Department of Pediatric Hematology and Oncology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1542/peds.2011-0870DOI Listing
February 2012

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

N Biotechnol 2012 Feb 20;29(3):321-4. Epub 2010 Oct 20.

Department of Biology and Medical Genetics, Charles University, 2nd Faculty of Medicine and University Hospital Motol, V Uvalu 84, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.nbt.2010.10.006DOI Listing
February 2012

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

Am J Med Genet A 2010 May;152A(5):1273-7

Department of Biology and Medical Genetics, Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://doi.wiley.com/10.1002/ajmg.a.33352
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http://dx.doi.org/10.1002/ajmg.a.33352DOI Listing
May 2010

Pharmaceutical applications of isoelectric focusing on microchip with imaged UV detection.

J Chromatogr A 2008 Feb 24;1181(1-2):145-52. Epub 2007 Dec 24.

Department of Chemistry, University of Basel, Spitalstrasse 51, 4056 Basel, Switzerland.

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http://dx.doi.org/10.1016/j.chroma.2007.12.046DOI Listing
February 2008

Determination of cationic neurotransmitters and metabolites in brain homogenates by microchip electrophoresis and carbon nanotube-modified amperometry.

J Chromatogr A 2007 Feb 17;1142(2):214-21. Epub 2006 Dec 17.

Department of Chemistry, University of Basel, Spitalstrasse 51, 4056 Basel, Switzerland.

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http://dx.doi.org/10.1016/j.chroma.2006.12.040DOI Listing
February 2007

Effects of the limited analyte solubility on its mobility and zone shape: electrophoretic behavior of sanguinarine and chelerythrine around pH 7.

Electrophoresis 2005 Sep;26(17):3265-72

Institute of Analytical Chemistry, Czech Academy of Sciences, Brno, Czech Republic.

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http://doi.wiley.com/10.1002/elps.200500344
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http://dx.doi.org/10.1002/elps.200500344DOI Listing
September 2005

Enzymatic sensitivity enhancement of biogenic monoamines on a chip.

Electrophoresis 2005 Jul;26(14):2701-7

Department of Chemistry, University of Basel, Basel, Switzerland.

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http://dx.doi.org/10.1002/elps.200410396DOI Listing
July 2005

Capillary zone electrophoretic studies of interactions of some quaternary isoquinoline alkaloids with DNA constituents and DNA.

Electrophoresis 2005 May;26(9):1673-9

Department of Chemistry and Biochemistry, Mendel University of Agriculture and Forestry, Zemĕdĕlská 1, CZ-613 00 Brno, Czech Republic.

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http://doi.wiley.com/10.1002/elps.200410193
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http://dx.doi.org/10.1002/elps.200410193DOI Listing
May 2005

Capillary electrophoretic studies of acid-base properties of sanguinarine and chelerythrine alkaloids.

J Chromatogr A 2004 Jun;1040(1):141-5

Department of Chemistry and Biochemistry, Mendel University of Agriculture and Forestry, Zemedelská 1, CZ-613 00 Brno, Czech Republic.

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http://dx.doi.org/10.1016/j.chroma.2004.03.064DOI Listing
June 2004

Electrophoretic investigation of interactions of sanguinarine and chelerythrine with molecules containing mercapto group.

J Chromatogr B Analyt Technol Biomed Life Sci 2003 Nov;797(1-2):357-66

Institute of Analytical Chemistry, Academy of Sciences of Czech Republic, Veverí 97, CZ-611 42 Brno, Czech Republic.

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http://dx.doi.org/10.1016/s1570-0232(03)00308-8DOI Listing
November 2003