Horia C Stanescu

Horia C Stanescu

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Horia C Stanescu

Horia C Stanescu

Publications by authors named "Horia C Stanescu"

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25Publications

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Genetics of membranous nephropathy.

Nephrol Dial Transplant 2018 09;33(9):1493-1502

University College London-Centre for Nephrology, London, UK.

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http://dx.doi.org/10.1093/ndt/gfx296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113634PMC
September 2018

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.

Rheumatology (Oxford) 2017 02 5;56(2):209-213. Epub 2016 May 5.

National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, University College London Medical School, London, UK.

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http://dx.doi.org/10.1093/rheumatology/kew058DOI Listing
February 2017

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.

J Allergy Clin Immunol 2017 02 15;139(2):634-642.e5. Epub 2016 Jul 15.

Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom; Department of Clinical Immunology, Great Ormond Street Hospital NHS Trust, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.036DOI Listing
February 2017

The use of whole-exome sequencing to disentangle complex phenotypes.

Eur J Hum Genet 2016 Feb 10;24(2):298-301. Epub 2015 Jun 10.

Centre for Translational Omics - GOSgene, UCL Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717198PMC
February 2016

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Eur J Hum Genet 2016 Jan 10;24(1):135-8. Epub 2015 Jun 10.

Reproductive Medicine Unit, Institute for Women's Health, University College London Hospitals, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795223PMC
January 2016

Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings.

PLoS One 2013 14;8(11):e79765. Epub 2013 Nov 14.

Department of Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom ; Centre for Nephrology, University College London, London, United Kingdom.

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http://discovery.ucl.ac.uk/1415812/1/journal.pone.0079765.pd
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http://dx.plos.org/10.1371/journal.pone.0079765
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079765PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3828195PMC
November 2014

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

N Engl J Med 2014 Jan;370(2):129-38

From the Centre for Nephrology (E.D.K., H.C.S., D.B., G.J., H.C., A.M.H., R.J.U., R.K.) and Institute of Child Health (D.B., R.K.), University College London, and Biomolecular Medicine, Imperial College London (S.L.R., A.D.W., E.H., J.K.N.) - both in London; the Departments of Medical Cell Biology (M.R., C.B., D.P., C.S., R. Warth), Internal Medicine III (K.R.), Internal Medicine II (S.W.R.), and Molecular and Cellular Anatomy (R. Witzgall) and the Institutes of Functional Genomics (J.R., K.E., N.A., P.J.O., K.D.) and Pathology (J.S.), University of Regensburg, and the Department of Radiology, Barmherzige Brueder Hospital (N.Z.) - all in Regensburg, Germany; the National Human Genome Research Institute (A.H.-W., S.L.R., H.C.S., K.O., I.B., D.M.K., W.A.G., R.K.) and National Heart, Lung, and Blood Institute (Y.I.), National Institutes of Health, Bethesda, MD; the Division of Pediatric Nephrology, University of Florida, Jacksonville (A.T., M.I.); the Genome Biology Department, Australian National University, Canberra, ACT, Australia (M.A.-B.); Kitasato University Medical Center, Saitama, Japan (H.N.); and the Department of Pathology, Northwestern University, Chicago (Y.J., J.K.R.).

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http://dx.doi.org/10.1056/NEJMoa1307581DOI Listing
January 2014

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron Physiol 2012 23;122(1-2):1-6. Epub 2013 Feb 23.

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1159/000349989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194PMC
October 2013

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

Ann Neurol 2013 Apr 19;73(4):546-53. Epub 2013 Feb 19.

Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.23832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698699PMC
April 2013

Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations.

Pediatr Nephrol 2011 Oct 8;26(10):1857-61. Epub 2011 May 8.

Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-011-1891-0DOI Listing
October 2011

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.

J Physiol 2011 Apr 7;589(Pt 7):1681-9. Epub 2011 Feb 7.

The Tony Kriss Visual Electrophysiology Unit, Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital/University College London, London WC1 N3JH, UK.

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http://dx.doi.org/10.1113/jphysiol.2010.198531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099023PMC
April 2011