Darina Prchalova

Darina Prchalova

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Darina Prchalova

Darina Prchalova

Publications by authors named "Darina Prchalova"

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17Publications

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

Am J Hum Genet 2019 Nov 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

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.

Am J Med Genet A 2019 Oct 1;179(10):2119-2123. Epub 2019 Aug 1.

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.61302DOI Listing
October 2019

Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics.

BMC Med Educ 2019 Oct 24;19(1):390. Epub 2019 Oct 24.

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

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http://dx.doi.org/10.1186/s12909-019-1817-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6813102PMC
October 2019

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.

Mol Genet Genomic Med 2019 Sep 23;7(9):e865. Epub 2019 Jul 23.

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/mgg3.865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732288PMC
September 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

BMC Med Genet 2017 06 2;18(1):62. Epub 2017 Jun 2.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Plzenska 130/221, 15000, Prague 5, Czech Republic.

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http://dx.doi.org/10.1186/s12881-017-0425-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457574PMC
June 2017

Biomarkers of Brain Damage: S100B and NSE Concentrations in Cerebrospinal Fluid--A Normative Study.

Biomed Res Int 2015 1;2015:379071. Epub 2015 Sep 1.

Laboratory for CSF and Neuroimmunology, Topelex Ltd., 190 00 Prague, Czech Republic ; Department of Biochemistry and Microbiology, The Institute of Chemical Technology, 166 28 Prague, Czech Republic.

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http://dx.doi.org/10.1155/2015/379071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4569754PMC
July 2016

Regulation of Isoprenoid Pheromone Biosynthesis in Bumblebee Males.

Chembiochem 2016 Feb 22;17(3):260-7. Epub 2015 Dec 22.

Institute of Organic Chemistry and Biochemistry, Academy of Sciences of the Czech Republic, v.v.i. Flemingovo n. 2, 166 10, Prague 6, Czech Republic.

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http://dx.doi.org/10.1002/cbic.201500415DOI Listing
February 2016

Hypophosphatasia due to uniparental disomy.

Bone 2015 Dec 1;81:765-766. Epub 2015 May 1.

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.bone.2015.04.041DOI Listing
December 2015

The role of desaturases in the biosynthesis of marking pheromones in bumblebee males.

Insect Biochem Mol Biol 2013 Aug 29;43(8):724-31. Epub 2013 May 29.

Institute of Organic Chemistry and Biochemistry, Academy of Sciences of the Czech Republic, v.v.i. Flemingovo n. 2, 166 10 Prague 6, Czech Republic.

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http://dx.doi.org/10.1016/j.ibmb.2013.05.003DOI Listing
August 2013