Publications by authors named "Marketa Havlovicova"

34Publications

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nat Commun 2020 10 1;11(1):4932. Epub 2020 Oct 1.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41467-020-18723-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530681PMC
October 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

Assisted Reproductive Techniques and Pregnancy Results in Women with Mayer-Rokitansky-Küster-Hauser Syndrome Undergoing Uterus Transplantation: the Czech Experience.

J Pediatr Adolesc Gynecol 2020 Aug 26;33(4):410-414. Epub 2020 Mar 26.

Department of Obstetrics and Gynaecology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.jpag.2020.03.006DOI Listing
August 2020

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 10 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

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

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

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

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

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

Mol Cytogenet 2014 19;7:51. Epub 2014 Aug 19.

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/10.1186/1755-8166-7-51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236861PMC
November 2014

The importance of advanced parental age in the origin of neurofibromatosis type 1.

Am J Med Genet A 2012 Mar 2;158A(3):519-23. Epub 2012 Feb 2.

Department of Pediatrics, 2nd Medical School and University Hospital Motol, Charles University, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.34413DOI Listing
March 2012

Odor detection threshold, but not odor identification, is impaired in children with autism.

Eur Child Adolesc Psychiatry 2011 Jul 29;20(7):333-40. Epub 2011 Apr 29.

Department of Child Psychiatry, 2nd Faculty of Medicine, Charles University, V Uvalu 84, 15006, Prague, Czech Republic.

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http://dx.doi.org/10.1007/s00787-011-0177-1DOI Listing
July 2011

Brief report: significant differences in perceived odor pleasantness found in children with ASD.

J Autism Dev Disord 2011 Apr;41(4):524-7

Department of Child Psychiatry, Charles University, 2nd Faculty of Medicine, Prague, Czech Republic.

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http://dx.doi.org/10.1007/s10803-010-1084-xDOI Listing
April 2011

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

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.

Am J Med Genet A 2009 Jul;149A(7):1365-74

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

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http://dx.doi.org/10.1002/ajmg.a.32987DOI Listing
July 2009

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

Gene 2008 Jan 13;407(1-2):186-92. Epub 2007 Oct 13.

Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, V uvalu 84, Prague 5, Czech Republic.

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http://dx.doi.org/10.1016/j.gene.2007.10.009DOI Listing
January 2008

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.

Am J Med Genet A 2007 Jan;143A(1):76-81

Institute of Biology and Medical Genetics, Charles University Second Medical School and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.31569DOI Listing
January 2007

Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.

Neuro Endocrinol Lett 2006 Oct;27(5):579-85

Institute of Biology and Medical Genetics, Charles University Second Medical School and University Hospital Motol, Prague, Czech Republic.

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October 2006

Subtypes of autism by cluster analysis based on structural MRI data.

Eur Child Adolesc Psychiatry 2005 May;14(3):138-44

Department of Child Psychiatry, Charles University, 2nd Medical School, V Uvalu 84, 15006 Prague, Czech Republic.

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http://dx.doi.org/10.1007/s00787-005-0453-zDOI Listing
May 2005

Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.

Neuro Endocrinol Lett 2005 Feb;26(1):71-4

Neurogenetic Centre of 2nd Faculty of Medicine, Charles University and Medical Hospital Motol, Prague, Czech Republic.

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February 2005

Not EEG abnormalities but epilepsy is associated with autistic regression and mental functioning in childhood autism.

Eur Child Adolesc Psychiatry 2004 Aug;13(4):209-13

Department of Child Psychiatry, Charles University, 2nd Medical School, V Uvalu 84, 15006 Prague, Czech Republic.

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http://dx.doi.org/10.1007/s00787-004-0353-7DOI Listing
August 2004