Jana Vandrovcova

Jana Vandrovcova

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Jana Vandrovcova

Jana Vandrovcova

Publications by authors named "Jana Vandrovcova"

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44Publications

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FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency.

Br J Haematol 2019 Sep 6;186(6):e163-e165. Epub 2019 Jun 6.

Centre for Haematology, Faculty of Medicine, Imperial College London, London, UK.

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http://dx.doi.org/10.1111/bjh.15979DOI Listing
September 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Ann Clin Transl Neurol 2018 02 22;5(2):216-221. Epub 2018 Jan 22.

Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom.

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http://dx.doi.org/10.1002/acn3.522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817843PMC
February 2018

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Am J Hum Genet 2017 Jun;100(6):969-977

Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.ajhg.2017.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473715PMC
June 2017

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.

BMC Syst Biol 2017 04 12;11(1):47. Epub 2017 Apr 12.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, WC1N, UK.

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http://dx.doi.org/10.1186/s12918-017-0420-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389000PMC
April 2017

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis.

Mol Neurodegener 2016 Feb 24;11:21. Epub 2016 Feb 24.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Russell Square House, 9-12 Russell Square House, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1186/s13024-016-0085-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765225PMC
February 2016

α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders.

Circ Cardiovasc Genet 2014 Dec 4;7(6):920-9. Epub 2014 Nov 4.

From the Department of Medicine, Imperial College London, London, United Kingdom (M.R.W., J.W., C.J.R., S.R.); National Academy of Sciences of Kyrgyz Republic, Bishkek, Kyrgyz Republic (A.A.A.); Physiological Genomics and Medicine Group, MRC Clinical Sciences Centre, Hammersmith Hospital, London, United Kingdom (J.V., T.J.A.); NIHR BRC Clinical Genome Informatics Facility, Imperial College London, London, United Kingdom (D.K., S.G.B., M.M.); Cardiology Research, Bayer Pharma AG, Wuppertal, Germany (S.G., J.-P.S.); Department of Pharmacology, The School of Pharmacy, Martin-Luther-University, Halle, Germany (J.-P.S.); Department of Pulmonary Pharmacotherapy, University of Giessen and Marburg Lung Center, Giessen, Germany (B.K.); Department of Medicine, University of Cambridge, Cambridge, United Kingdom (N.W.M.); Department of Pharmacology, Toxicology, and Clinical Pharmacy, University of Braunschweig-Center of Pharmaceutical Engineering, Braunschweig, Germany (I.N., S.B.); and Department of Chemistry, The Scripps Research Institute, La Jolla, CA (N.B.S., M.A.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.114.000763DOI Listing
December 2014

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.

Neurobiol Aging 2014 Jun 13;35(6):1514.e1-12. Epub 2014 Jan 13.

Reta Lila Weston Institute, UCL Institute of Neurology, London, UK; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4104112PMC
June 2014

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Genet Med 2013 Dec 16;15(12):948-57. Epub 2013 May 16.

MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London, UK.

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http://dx.doi.org/10.1038/gim.2013.55DOI Listing
December 2013

Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome.

Neurodegener Dis 2011 14;8(3):149-52. Epub 2010 Sep 14.

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1159/000319454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078284PMC
July 2011

Differential DJ-1 gene expression in Parkinson's disease.

Neurobiol Dis 2009 Nov 28;36(2):393-400. Epub 2009 Aug 28.

Reta Lila Weston Institute of Neurological Disease, Institute of Neurology, University College London, 1, Wakefield Street, WC1N 1PJ, UK.

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http://dx.doi.org/10.1016/j.nbd.2009.08.011DOI Listing
November 2009

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease.

Neurobiol Aging 2009 Sep 26;30(9):1477-82. Epub 2007 Dec 26.

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2007.11.019DOI Listing
September 2009

Somatic BRAF-V600E mutations in familial colorectal cancer.

Cancer Epidemiol Biomarkers Prev 2006 Nov;15(11):2270-3

Department of Molecular Medicine and Surgery, Karolinska Hospital, S-17176 Stockholm, Sweden.

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http://dx.doi.org/10.1158/1055-9965.EPI-06-0359DOI Listing
November 2006